vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53) - coding DNA reference sequence

(used for variant description)

(last modified October 6, 2021)


This file was created to facilitate the description of sequence variants on transcript NM_001128159.2 in the VPS53 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering VPS53 transcript NM_001128159.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5027
                                  gaagtgccggagcggctgacagagcgg       c.-121

 .         .         .         .         .         .                g.5087
 ctgacggagccgggctcaccaggtcgctgccgcgagggagttgctgtgctggggcctggg       c.-61

 .         .         .         .         .         .                g.5147
 tggcggctggaggcctgagttgggctcgcggcgggggtcggcagggggccgggtggcgga       c.-1

          .         .         .         .         .         .       g.5207
 ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACG       c.60
 M  M  E  E  E  E  L  E  F  V  E  E  L  E  A  V  L  Q  L  T         p.20

          .         .        | 02.         .         .         .    g.9276
 CCCGAGGTGCAGCTGGCCATCGAGCAG | GTGTTTCCAAGCCAGGACCCTCTAGATCGAGCA    c.120
 P  E  V  Q  L  A  I  E  Q   | V  F  P  S  Q  D  P  L  D  R  A      p.40

          .         .         .         .         | 03         .    g.20488
 GATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAA | TCTCTGGCGAAC    c.180
 D  F  N  A  V  E  Y  I  N  T  L  F  P  T  E  Q   | S  L  A  N      p.60

          .         .         .         | 04         .         .    g.22394
 ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAG | GAGACTGGATGACAATATTCGA    c.240
 I  D  E  V  V  N  K  I  R  L  K  I  R  |  R  L  D  D  N  I  R      p.80

          .         .         .         .      | 05  .         .    g.57976
 ACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAA | GCGCTTGAAGAGGCT    c.300
 T  V  V  R  G  Q  T  N  V  G  Q  D  G  R  Q   | A  L  E  E  A      p.100

          .         .         .         .         .         .       g.58036
 CAGAAAGCTATCCAACAACTCTTTGGCAAAATCAAAGATATCAAAGACAAAGCTGAAAAA       c.360
 Q  K  A  I  Q  Q  L  F  G  K  I  K  D  I  K  D  K  A  E  K         p.120

          .   | 06     .         .         .         .         .    g.63951
 TCAGAGCAAATG | GTGAAAGAAATCACCCGTGATATTAAGCAATTAGATCACGCCAAACGC    c.420
 S  E  Q  M   | V  K  E  I  T  R  D  I  K  Q  L  D  H  A  K  R      p.140

          .         .         .         .         .         .       g.64011
 CACCTGACCACCTCAATCACCACACTGAACCACCTGCACATGCTGGCAGGAGGTGTCGAC       c.480
 H  L  T  T  S  I  T  T  L  N  H  L  H  M  L  A  G  G  V  D         p.160

          | 07         .         .         .         .         .    g.66498
 TCCCTCGA | AGCCATGACCAGGCGAAGACAATACGGAGAAGTTGCTAATCTCCTTCAGGGT    c.540
 S  L  E  |  A  M  T  R  R  R  Q  Y  G  E  V  A  N  L  L  Q  G      p.180

          .         .         .         .         .         .       g.66558
 GTGATGAATGTCCTGGAGCACTTCCACAAGTATATGGGGATTCCGCAGATCCGGCAGCTT       c.600
 V  M  N  V  L  E  H  F  H  K  Y  M  G  I  P  Q  I  R  Q  L         p.200

          | 08         .         .         .         .         .    g.88280
 TCCGAAAG | AGTGAAGGCTGCACAGACTGAGTTAGGACAGCAAATCCTGGCAGATTTTGAA    c.660
 S  E  R  |  V  K  A  A  Q  T  E  L  G  Q  Q  I  L  A  D  F  E      p.220

          .         .        | 09.         .         .         .    g.91658
 GAAGCGTTTCCTTCCCAGGGCACCAAG | AGACCAGGAGGACCCAGCAATGTTCTACGAGAT    c.720
 E  A  F  P  S  Q  G  T  K   | R  P  G  G  P  S  N  V  L  R  D      p.240

          .         .         .         .         .         .       g.91718
 GCATGTCTGGTTGCTAATATTCTAGATCCCAGGATCAAACAGGAAATCATCAAAAAGTTT       c.780
 A  C  L  V  A  N  I  L  D  P  R  I  K  Q  E  I  I  K  K  F         p.260

          .         .         .         .         .  | 10      .    g.92549
 ATTAAACAGCATCTGTCAGAGTATCTGGTACTTTTTCAAGAAAACCAAGAT | GTTGCCTGG    c.840
 I  K  Q  H  L  S  E  Y  L  V  L  F  Q  E  N  Q  D   | V  A  W      p.280

          .         .         .         .         .         .       g.92609
 CTGGACAAAATCGACAGACGCTATGCCTGGATAAAACGCCAGCTTGTGGACTATGAGGAG       c.900
 L  D  K  I  D  R  R  Y  A  W  I  K  R  Q  L  V  D  Y  E  E         p.300

          .         .         .         .         .         .       g.92669
 AAATACGGCCGCATGTTTCCACGTGAGTGGTGCATGGCTGAGAGGATTGCGGTGGAATTT       c.960
 K  Y  G  R  M  F  P  R  E  W  C  M  A  E  R  I  A  V  E  F         p.320

          .     | 11   .         .         .         .         .    g.96228
 TGCCATGTGACAAG | GGCAGAACTTGCCAAGATTATGCGTACCAGAGCGAAGGAAATTGAA    c.1020
 C  H  V  T  R  |  A  E  L  A  K  I  M  R  T  R  A  K  E  I  E      p.340

          .         .         .         .         .         .       g.96288
 GTGAAATTGCTTCTTTTTGCTATTCAAAGAACAACTAACTTTGAGGGGTTTCTTGCAAAA       c.1080
 V  K  L  L  L  F  A  I  Q  R  T  T  N  F  E  G  F  L  A  K         p.360

          .         .         .       | 12 .         .         .    g.117984
 CGCTTCTCCGGCTGCACCCTGACCGATGGGACCCTG | AAAAAGCTTGAGTCTCCACCCCCA    c.1140
 R  F  S  G  C  T  L  T  D  G  T  L   | K  K  L  E  S  P  P  P      p.380

          .         .         .         .         .         .       g.118044
 TCTACCAATCCCTTCCTGGAAGATGAGCCAACACCAGAGATGGAGGAACTGGCAACGGAG       c.1200
 S  T  N  P  F  L  E  D  E  P  T  P  E  M  E  E  L  A  T  E         p.400

          .         | 13         .         .         .         .    g.133534
 AAAGGAGATTTAGATCAA | CCAAAGAAGCCTAAAGCCCCAGACAATCCATTTCATGGCATT    c.1260
 K  G  D  L  D  Q   | P  K  K  P  K  A  P  D  N  P  F  H  G  I      p.420

          .         .         .         .         .    | 14    .    g.157118
 GTTTCCAAGTGTTTTGAGCCTCATCTCTACGTGTATATCGAATCCCAAGACAA | GAACCTC    c.1320
 V  S  K  C  F  E  P  H  L  Y  V  Y  I  E  S  Q  D  K  |  N  L      p.440

          .         .         .         .         .         .       g.157178
 GGAGAGCTGATAGATCGGTTTGTGGCTGATTTCAAAGCCCAGGGGCCACCTAAGCCCAAC       c.1380
 G  E  L  I  D  R  F  V  A  D  F  K  A  Q  G  P  P  K  P  N         p.460

          .         .         .         .         .         .       g.157238
 ACTGATGAAGGGGGTGCCGTGCTCCCCAGCTGCGCCGACCTCTTTGTCTACTACAAGAAG       c.1440
 T  D  E  G  G  A  V  L  P  S  C  A  D  L  F  V  Y  Y  K  K         p.480

          .         .         .         .         .         .       g.157298
 TGCATGGTGCAATGCTCTCAGCTCAGTACTGGGGAGCCCATGATCGCCCTGACCACCATT       c.1500
 C  M  V  Q  C  S  Q  L  S  T  G  E  P  M  I  A  L  T  T  I         p.500

          .         .         .         .         .       | 15 .    g.159287
 TTCCAGAAGTACCTCCGAGAATACGCCTGGAAAATCCTCTCTGGCAACCTGCCCAA | AACC    c.1560
 F  Q  K  Y  L  R  E  Y  A  W  K  I  L  S  G  N  L  P  K  |  T      p.520

          .         .         .         .         .         .       g.159347
 ACAACCAGCAGTGGAGGACTGACTATCAGCAGCCTCCTCAAGGAAAAGGAGGGCTCAGAA       c.1620
 T  T  S  S  G  G  L  T  I  S  S  L  L  K  E  K  E  G  S  E         p.540

          .         .         .         .         .         .       g.159407
 GTAGCCAAGTTCACTCTGGAGGAGCTCTGCCTCATCTGTAACATCCTGAGCACGGCAGAG       c.1680
 V  A  K  F  T  L  E  E  L  C  L  I  C  N  I  L  S  T  A  E         p.560

          .         .     | 16   .         .         .         .    g.166430
 TACTGTCTGGCCACCACCCAGCAG | CTAGAAGAAAAACTCAAAGAAAAAGTGGATGTAAGT    c.1740
 Y  C  L  A  T  T  Q  Q   | L  E  E  K  L  K  E  K  V  D  V  S      p.580

          .         .         .         .        | 17.         .    g.167919
 CTGATTGAACGAATCAATCTGACTGGAGAGATGGACACGTTCAGCAC | CGTCATCTCCAGC    c.1800
 L  I  E  R  I  N  L  T  G  E  M  D  T  F  S  T  |  V  I  S  S      p.600

          .         .         .         .         .         .       g.167979
 AGTATTCAGCTGCTGGTTCAGGATCTGGATGCTGCCTGTGATCCTGCCCTGACTGCCATG       c.1860
 S  I  Q  L  L  V  Q  D  L  D  A  A  C  D  P  A  L  T  A  M         p.620

        | 18 .         .         .         .         .         .    g.182734
 AGCAAG | ATGCAGTGGCAGAACGTGGAGCACGTTGGTGACCAGAGCCCCTACGTCACCTCT    c.1920
 S  K   | M  Q  W  Q  N  V  E  H  V  G  D  Q  S  P  Y  V  T  S      p.640

          .         .         .         .         .         .       g.182794
 GTCATTCTGCACATCAAGCAGAACGTCCCCATCATCCGTGACAACCTGGCTTCCACACGC       c.1980
 V  I  L  H  I  K  Q  N  V  P  I  I  R  D  N  L  A  S  T  R         p.660

          .         .         .      | 19  .         .         .    g.186970
 AAGTACTTCACTCAGTTCTGCGTTAAATTTGCAAA | CTCCTTCATTCCCAAATTCATCACC    c.2040
 K  Y  F  T  Q  F  C  V  K  F  A  N  |  S  F  I  P  K  F  I  T      p.680

          .         .         .         .      | 20  .         .    g.198133
 CACCTCTTCAAGTGCAAGCCAATTAGCATGGTGGGAGCAGAACAG | CTGCTGCTGGACACC    c.2100
 H  L  F  K  C  K  P  I  S  M  V  G  A  E  Q   | L  L  L  D  T      p.700

          .         .         .         .         .         .       g.198193
 CACTCGCTGAAGATGGTCCTGCTCGATCTCCCCTCCATCAGCTCGCAGGTGGTGAGGAAG       c.2160
 H  S  L  K  M  V  L  L  D  L  P  S  I  S  S  Q  V  V  R  K         p.720

          .         .         .         .         .         .       g.198253
 GCACCCGCCAGCTACACCAAGATCGTTGTCAAAGGCATGACCCGGGCTGAGATGATCCTC       c.2220
 A  P  A  S  Y  T  K  I  V  V  K  G  M  T  R  A  E  M  I  L         p.740

     | 21    .         .         .         .         .         .    g.199983
 AAG | GTAGTGATGGCCCCTCATGAACCGTTGGTGGTGTTTGTTGACAACTACATCAAACTT    c.2280
 K   | V  V  M  A  P  H  E  P  L  V  V  F  V  D  N  Y  I  K  L      p.760

          .         .         .         .         | 22         .    g.200570
 CTCACAGACTGCAACACAGAAACCTTTCAGAAGATACTGGACATGAAG | GGGCTGAAGAGG    c.2340
 L  T  D  C  N  T  E  T  F  Q  K  I  L  D  M  K   | G  L  K  R      p.780

          .         .         .         .         .         .       g.200630
 AGTGAGCAGAGCAGCATGCTGGAACTCCTGCGCCAGCGGCTCCCCGCACCGCCCTCGGGG       c.2400
 S  E  Q  S  S  M  L  E  L  L  R  Q  R  L  P  A  P  P  S  G         p.800

          .         .         .         .         .         .       g.200690
 GCAGAAAGCTCCGGCTCACTGTCCCTGACGGCGCCAACACCAGAGCAAGAGTCGTCACGC       c.2460
 A  E  S  S  G  S  L  S  L  T  A  P  T  P  E  Q  E  S  S  R         p.820

          .         .         .                                     g.200729
 ATCCGCAAGCTCGAGAAACTCATTAAAAAGAGACTGTAG                            c.2499
 I  R  K  L  E  K  L  I  K  K  R  L  X                              p.832

          .         .         .         .         .         .       g.200789
 cagcagcaaggggccctttgctcctggctggagaccctcagcgcccgttccccagaagcc       c.*60

          .         .         .         .         .         .       g.200849
 cccaacctctcctgtgctccccggcactctcacatcgtcggtcttcaaacttcctgggac       c.*120

          .         .         .         .         .         .       g.200909
 atgtgggttgttactgagtctctcccatgccctgtcttacttcctgccctaatcggagac       c.*180

          .         .         .         .         .         .       g.200969
 gctgagtaagggctgggctctaagagggcgatttaggtgatctctggttcgtgaagcaga       c.*240

          .         .         .         .         .         .       g.201029
 ggcagcagtggaggataggtccctgagctgcccttgactcatgtagcctccccatggcag       c.*300

          .         .         .         .         .         .       g.201089
 tcacaccctcttgacacgtgggccccacccgtcctttttttttttttttttttttttttt       c.*360

          .         .         .         .         .         .       g.201149
 tgagacagagtctcgctctgtcacccaggctggagtgcagtggcgtgatctcggctcact       c.*420

          .         .         .         .         .         .       g.201209
 gcaacctccgcctcccaggttcaagcaattctcctgcctcagcctcctgagtatcggatt       c.*480

          .         .         .         .         .         .       g.201269
 acaggcgtgagccaccgagcccagccccttcctccatttctttactcccaccctgctcct       c.*540

          .         .         .         .         .         .       g.201329
 ggtttctagggaagggaaaccaggaagttcacttggaagacgtttcctaggttttctcat       c.*600

          .         .         .         .         .         .       g.201389
 cagatgaagccatgggaacgcccaggaagtccatactctcaaacccctttctgcccactc       c.*660

          .         .         .         .         .         .       g.201449
 accttcaggtccacagcactttccagcgtcatctgaaatagcaaaggtgatgtgcagcat       c.*720

          .         .         .         .         .         .       g.201509
 cccagtgatgtgttcctgtgttatgagaaggagtctggggttctggatgcctcaggaaca       c.*780

          .         .         .         .         .         .       g.201569
 gaatatggaccttaaagaccaggctgagagcctggcctggcacgcagcctgcccgccccc       c.*840

          .         .         .         .         .         .       g.201629
 cccgcccttcctgtccaccgcgggctctctgcagcagggcttgccgaagagactgctccc       c.*900

          .         .         .         .         .         .       g.201689
 gacctctcatgtcatcctgcatccagagaatggcagcatatcaagccgttaaccctgatt       c.*960

          .         .         .         .         .         .       g.201749
 cactcggttcccttgaaaccaggcctcagttaaccatgaccacagctacaggcaaaccgc       c.*1020

          .         .         .         .         .         .       g.201809
 tgctgttgctgcctgcttttgctgaagaatgatatcttgccaggcacggcggctcatgcc       c.*1080

          .         .         .         .         .         .       g.201869
 tgtagtcgcaacactttgggagaccaaggcaggaggatcacttgagtccaggagtttgag       c.*1140

          .         .         .         .         .         .       g.201929
 accagcctgggcaacatacagatgtctacaaaaataaaaatttgcaaggtgtggtggcat       c.*1200

          .         .         .         .         .         .       g.201989
 gcacctgtagtcccaactgctagggaggctgaggtgggcagattgcttgagctcaggagt       c.*1260

          .         .         .         .         .         .       g.202049
 ttgagaccagtctgggcaacctggcaaaaccaaaaatacaaaaaattggctgggtgtggt       c.*1320

          .         .         .         .         .         .       g.202109
 ggctcatgcctgtaatcacagcactttgggaggctgaggcaggtggatcacctgaggtca       c.*1380

          .         .         .         .         .         .       g.202169
 ggaattcgagaccagcctgcccaacatggcgaaaccctgtctcaactaaaaataaaaaaa       c.*1440

          .         .         .         .         .         .       g.202229
 attagccgggtgtcatggcgagtgcctgtaatcccagctactggggaggctgaggcagga       c.*1500

          .         .         .         .         .         .       g.202289
 gaatcacttaaacccgggaggtggaggctgcagtgagccaagatttcaccactgcactcc       c.*1560

          .         .         .         .         .         .       g.202349
 agcctgggtgacagagcaagaccccttctcaaaaagttttcaggatagaggaaatttcct       c.*1620

          .         .         .         .         .         .       g.202409
 taaaatccataaaacttgtaacagccgtacagtaggaataaggtttggaaatctgcctgg       c.*1680

          .         .         .         .         .         .       g.202469
 aaacctgatttcctcatccccaccttgtttcccaacataaccactgctctgtgcccctgc       c.*1740

          .         .         .         .         .         .       g.202529
 cctctctgccaggctttctccccgatgccgtccagctctgatcctgagtgtcatttcttc       c.*1800

          .         .         .         .         .         .       g.202589
 atcggcttccaggctgtccttgctagctggtttgactctcacgcatcaagcgtctcaaat       c.*1860

          .         .         .         .         .         .       g.202649
 ttgagaatgcggaggagaaaagaagtgttgcgagaaggagatgcggccttcagttgaggt       c.*1920

          .         .         .         .         .         .       g.202709
 ctattaggaaaagattccaaataagacaagggcggggggcggcagtcgggagagccccca       c.*1980

          .         .         .         .         .         .       g.202769
 ggaagccctgtagatgcccccaccccagcccatggagttgctatggttaagcagcctgag       c.*2040

          .         .         .         .         .         .       g.202829
 ccgtacagttgaaaaggggcggtggggcccatctccaaatagcacagccagttcagccgt       c.*2100

          .         .         .         .         .         .       g.202889
 ctgtcctcaacccaggagagctgggaaagccagtggactcctgcacctggttcttgtcac       c.*2160

          .         .         .         .         .         .       g.202949
 tcctggcgtttgtgtacagatcaccacttctctttttggttcattgttgaggagtcgttt       c.*2220

          .         .         .         .         .         .       g.203009
 tccggacggctccatcacagcattgagctatcaagctgctgttttccacagttggtggtc       c.*2280

          .         .         .         .         .         .       g.203069
 acagccagggaagttgctgtcttgatttgttacattgtcagtaatccccaaggaaccaat       c.*2340

          .         .         .         .         .         .       g.203129
 ggatgtcagtaggagtttctgttaaatgtctccttgatggggactcagtactgtgtagag       c.*2400

          .         .         .         .         .         .       g.203189
 acgctgtgtttctcttctgggggtgtgcatcagaaccactggggccttttaaaatctaca       c.*2460

          .         .         .         .         .         .       g.203249
 gatgccggccgggcgccgtggctcacgcctggaatcccagcacttggggaggctgaggcg       c.*2520

          .         .         .         .         .         .       g.203309
 ggcggatcacaagcgcaggaaattgagaccatccttgccaatatggtgaaaccccatctc       c.*2580

          .         .         .         .         .         .       g.203369
 tacaaaaaatacaaaaattaccggggtgtggtggcgtgcacacctcccagctacttggga       c.*2640

          .         .         .         .         .         .       g.203429
 ggctgaggcaggagaatcgcttgaacccgggaggcaaagattgcagtgagccgagatcac       c.*2700

          .         .         .         .         .         .       g.203489
 gccactgcactccagcctggcgacagagtgagactctatctcaaaacaaacaaaaaaaca       c.*2760

          .         .         .         .         .         .       g.203549
 gatgcccggagattttgagtcagtaagtttggatggggcctggcatacaggtttaaaagt       c.*2820

          .         .         .         .         .         .       g.203609
 tccataggtagttataacgtttacaccttgttaagaaccactgcaacagagagatttgct       c.*2880

          .         .         .         .         .         .       g.203669
 ttatggaagggctcctgccacgcattttcatacatgtctatttttctgactctaagctaa       c.*2940

          .         .         .         .         .         .       g.203729
 aagtgcgccgacactacacttgagctggtgccaacgtggtgaagattctctactgataac       c.*3000

          .         .         .         .         .         .       g.203789
 agctttcattttaaacttgtgttgggtcaggcgcggtggctcacgcctgtaatcccagca       c.*3060

          .         .         .         .         .         .       g.203849
 ctttgggaggccgaggtgggcggatcacatgaggtcacgagtttgagaccagcctggcca       c.*3120

          .         .         .         .         .         .       g.203909
 acatggcaaaatcccatctctactaaaaatacaaaaaaaaaaaaaaaaaaagcaggcagg       c.*3180

          .         .         .         .         .         .       g.203969
 tggcgggtgcctgtaatcccagctacttgggaggctgaggcaggggaatcagttgaatcc       c.*3240

          .         .         .         .         .         .       g.204029
 gggaggcggaggttgcagtgagccgaggtcccgccactgcactccagcctgggagacaga       c.*3300

          .         .         .         .         .         .       g.204089
 gtgagactcagttaaaaaaaaaagacttttggtggtggtggggaccatgcccaggattgg       c.*3360

          .         .         .         .         .         .       g.204149
 gctctctccatactgatgaggattcttcttgttttgatgaccaacccccaagcagaagct       c.*3420

          .         .         .         .         .         .       g.204209
 ttatttattaacatcacttcaaaaataacgtatcaaaggggcaccctaggccgggtactg       c.*3480

          .         .         .         .         .         .       g.204269
 tggcatcacacctgtaatgccagtgctttgagaggctgaggtgggaagattgcttgagcc       c.*3540

          .         .         .         .         .         .       g.204329
 caggacttcaagacaagcctgggcaacagagtgagaccccatctctattaaaaaataggc       c.*3600

          .         .         .         .         .         .       g.204389
 cgggcatggtggctcacactggtaatcccagcactttgggaggccgaggcaggtggatca       c.*3660

          .         .         .         .         .         .       g.204449
 tgtgaggtcaggagttcgagaccagcctggccgacatggtgaaaccctgtctttactaaa       c.*3720

          .         .         .         .         .         .       g.204509
 aatacaaaattagccaggcgtggtggtgggcgcctgtaatcccagctactcaggaggctg       c.*3780

          .         .         .         .         .         .       g.204569
 aagcaggaggatcgcttgaacccaggaggcagaggctgcagtgagccgagatcatgccat       c.*3840

          .         .         .         .         .         .       g.204629
 tgcactcctgcctgggtgacggagcaagactctctaaaaaataataaggtaaaaggagta       c.*3900

          .         .         .         .         .         .       g.204689
 cctgtggatgaaagcagcagctaacagctctgtgattcagctagacctagatattgtgcc       c.*3960

          .         .         .         .         .         .       g.204749
 cattccttcccctcagtccattttctgtagcccctttaaaaaccaaaaaacaactttgaa       c.*4020

          .         .         .         .         .         .       g.204809
 gtcactttgggtttaaaataaatagtggtaatttgtataatcaataaagagttcactctg       c.*4080

          .         .         .         .         .         .       g.204869
 ctcttactgaggggacttgtctgaaagctggcttagcggtgtccaggccagagaacatcc       c.*4140

          .         .         .         .         .         .       g.204929
 tgtgtggactcttaacaatgaaacaggagccgcaatggacaaggtgttctgatctccaaa       c.*4200

          .         .         .         .         .         .       g.204989
 cccagctcagggattgaagctaactaccgccactccttcctctctcgaagaacaaagagc       c.*4260

          .         .         .         .         .         .       g.205049
 cagtacccagggctctgcccacccccgagaaggggtgcctgatttcttatgtctagggtg       c.*4320

          .         .         .         .         .         .       g.205109
 gctcctctgtgcagatcagacaggactgagagcagacaagctgagaccagcatgaccagt       c.*4380

          .         .         .         .         .         .       g.205169
 acagggcacgcagagcgtgggggcaggtccgaggctgctgctcgatgcagggtatgacac       c.*4440

          .         .         .         .         .         .       g.205229
 caacccttcctgaattgccatcggatgaggagacctggttccctgttgaaagaatgccag       c.*4500

          .         .         .         .         .         .       g.205289
 gggaaatgctgcatgtgcacagctggaaatggggttccttctctaggaagagcactcgga       c.*4560

          .         .         .         .         .         .       g.205349
 ataacctgctggaaatggggttccttccctaggaagagcactcagaataacctgctggaa       c.*4620

          .         .         .         .         .         .       g.205409
 atgggattccttggctaggaagagcactcagaataacctgctggaaatgggattccttgg       c.*4680

          .         .         .         .         .         .       g.205469
 ctaggaagagcactcagaataacctgctggaaatgggattccttacctaggaagagcact       c.*4740

          .         .         .         .         .         .       g.205529
 cggaataacctgctggaaatgggattccttacctaggaagagcactcggaataacctgct       c.*4800

          .         .         .         .         .         .       g.205589
 ggaaatggggttccttccctaggaagagcactcggaataacctgctggaaatggggttcc       c.*4860

          .         .         .         .         .         .       g.205649
 ttccctaggaagagcactcggaataacctgctggaaatggggttccttcgctaggaagag       c.*4920

          .         .         .         .         .         .       g.205709
 cactcggaataacctgctggaaatgggattccttcgctaggaagagcactcggaataacc       c.*4980

          .         .         .         .         .         .       g.205769
 tgctggaaatgggattccttcgctaggaagagcactcggaataacctgctggaaatgaga       c.*5040

          .         .         .         .         .         .       g.205829
 ttccttccctaggaagagcactcggaataacctgctggaaatgggattccttcgctagga       c.*5100

          .         .         .         .         .         .       g.205889
 agagcactcggaataacctgctggaaatgagattccttcgctaggaagagcactcggaat       c.*5160

          .         .         .         .         .         .       g.205949
 aacctgctggaaatgggattccttcgctaggaagagcactcggaataacctgctggaaat       c.*5220

          .         .         .         .         .         .       g.206009
 gagattccttcgctaggaagagcactcggaataacctgctggaaatgggattccttcgct       c.*5280

          .         .         .         .         .         .       g.206069
 aggaagagcactcggaataacctgctggaaatgggattccttcgctaggaagagcactcg       c.*5340

          .         .         .         .         .         .       g.206129
 gaataacctgctggaaatgggattccttccctaggaagagcactcggaataacctgctgg       c.*5400

          .         .         .         .         .         .       g.206189
 aaatgagattccttccctaggaagagcactcggaataacctgctggaaatgggattcctt       c.*5460

          .         .         .         .         .         .       g.206249
 cgctaggaagagcactcggaataacctgctggaaatgggattccttcgctaggaagagca       c.*5520

          .         .         .         .         .         .       g.206309
 ctcagaacaacctgcctgcttgagggtgacagcaagtgtctcacacttctcgtctactcc       c.*5580

          .         .         .         .         .         .       g.206369
 aagtcagattcctaaaaataaaatagagctccaatgggcaatttaagcaaaagccttaga       c.*5640

          .         .         .         .         .         .       g.206429
 aacatggacacctgaaatgctggcctacatgaagggtacgatgacattttatatattaaa       c.*5700

          .         .         .         .         .         .       g.206489
 taaaaattcccagtcctgttttagtattcatcagaatagcctcttggaccctcgaagttc       c.*5760

          .         .         .         .         .         .       g.206549
 tacacctttgggagatataaatttccttaaaataaagggattgcttctttgtgtaaatag       c.*5820

          .         .         .         .         .         .       g.206609
 ctttcattttctccatctggaagtgatttctgcctgcatgttggagcacaaaatactgca       c.*5880

          .         .         .         .         .         .       g.206669
 gttaattaaagcattactggatgtcatttgctagaatgtatttccttactgctgacagaa       c.*5940

          .         .         .         .         .         .       g.206729
 aacagaacagactctaggaaagaagtagcaagtccgtgaccctggccgctcctggtggct       c.*6000

          .         .         .         .         .         .       g.206789
 gcccttctcccttccctgacagtctaaggaagcaacgcgtgggagcagaatgtggccgac       c.*6060

          .         .         .         .         .         .       g.206849
 tgagcccagtcctgacctgcccagttgcagtggagcctgtctgtaatgttgtgtaaagtg       c.*6120

          .         .         .         .         .         .       g.206909
 ttttgcttctgacttggaaccctacttgccctgtgaatttctatcctgtgaaccttccct       c.*6180

          .         .         .         .         .         .       g.206969
 tctctgtccttaccgttcccatcacagcctgctcttccagtgacggccaagtgatttctc       c.*6240

          .         .         .         .         .         .       g.207029
 tcctgcacgcatgagtccatcctgtttccttagtagctggatggacgttttgccatgaaa       c.*6300

          .         .         .         .         .         .       g.207089
 actctttgggaagtcttgtgtcctttagtgatttctctcctgcacgcatgagtccatcct       c.*6360

          .         .         .         .         .         .       g.207149
 gtttccttagtagctggttggacgtttttgccatgaaaactcttcgggaagtcctgtgtc       c.*6420

          .         .         .         .         .         .       g.207209
 ctttcaacaggggaaaactggctgcggcccttccattaggctccaggatcattacctcgt       c.*6480

          .         .         .         .         .         .       g.207269
 ttccattctttcttttcaacagctccccactttactagggaagccaagggatcaacctaa       c.*6540

          .         .         .         .         .         .       g.207329
 tgagaaaagaaccttccctgtagcccacctggaagggcattgcctgccagctccttcctt       c.*6600

          .         .         .         .         .         .       g.207389
 ctcacctatgtgaacaggagggaagatgccggcgatccatggatctgtgggacatgaagg       c.*6660

          .         .         .         .         .         .       g.207449
 acgtgtccatcagaaatgaaagcagcctgggattggaagcatccacagaagacttgatct       c.*6720

          .         .         .         .         .         .       g.207509
 gcaggtcttgatttggacctggcactttgacaccaggcgagtcactgatcccctgagcat       c.*6780

          .         .         .         .         .         .       g.207569
 ccattttcaatattggtgagaggggattataatgaatattggctgtgaaggtcacacaag       c.*6840

          .         .         .         .         .         .       g.207629
 accgggctatatgcacttgctctgccataaggcagtgtgaagtgtgttcgtgatcacttg       c.*6900

          .         .         .         .         .         .       g.207689
 tgggcgggagcctgtggctgtcttgcctggactggcttttttaaacatggatgagtggtg       c.*6960

          .         .         .         .         .         .       g.207749
 acaaatcctgcggccgtgtgcaggctacatccgcagcgagctccgcatatctggtctttg       c.*7020

          .         .         .         .         .         .       g.207809
 cctttttaggtcatgactgtaatatcaagcttacacgagagttttaaaagactgagcagt       c.*7080

          .         .         .         .         .         .       g.207869
 atccccttcccctggcagctgctgcttccgtagcatttagggataaacctgcagacactg       c.*7140

          .         .         .         .         .         .       g.207929
 agaagagagcttcctccctcctggggctggtggcgaggctgcctgttgtggaaaataggg       c.*7200

          .         .         .         .         .         .       g.207989
 catgtctcctgtgaatgcgaattgcgagggttgccaaagcctcccttccaagaaacttgc       c.*7260

          .         .         .         .         .         .       g.208049
 ttaggtgtctggtgtccacagaccagactcttctcccgacagggacaaaaattcttgcct       c.*7320

          .         .         .         .         .         .       g.208109
 gcctttctttttcttttttttccttttacttattcttgccttttttcttcttcttcttct       c.*7380

          .         .         .         .         .         .       g.208169
 ttaggtatgatgccccccaaaaaactaagcaagattaacttgggacaggcagttctaact       c.*7440

          .         .         .         .         .         .       g.208229
 gggaagcctgagctcacaggctgtttggattactttccaattgtgtttcaaagatgttta       c.*7500

          .         .         .         .         .         .       g.208289
 gacttttcccaaggccagctgaatccttataatcagcccaaaagttcctttctgtttctg       c.*7560

          .         .         .         .         .         .       g.208349
 tctgtcccctttgagggtgttgactcagagaacctggggcaatatgagatgttaaaataa       c.*7620

          .         .         .         .         .         .       g.208409
 aaatagcgtccaacgtcccgcctcctgggaatgctgctcacttcatccgagggttctggg       c.*7680

          .         .         .         .         .         .       g.208469
 agcttctgctcagtcatcaaatggaatttgcacaattgtcttgcctcctgttttgggtaa       c.*7740

          .         .         .         .         .         .       g.208529
 tttttcaacaagtgagaaattaagaacagcttctcaacaaacttccctctacttccaggg       c.*7800

          .         .         .         .         .         .       g.208589
 ccaagaaaagtatttgcagtgtgggctgcagctttcaggggtctcaggtgaaatggtggc       c.*7860

          .         .         .         .         .         .       g.208649
 aagaaaccccagctcccttcatgtgtttgccttgcgctgatggaaaaggaaggcacttct       c.*7920

          .         .         .         .         .         .       g.208709
 cagctgccagagaccacattccacagggttcttcacaaaatcaagcactgcagtggacca       c.*7980

          .         .         .         .         .         .       g.208769
 actggagcagccactggagggctttagaaggcaaatggaatacatatcaaatgctatata       c.*8040

          .         .         .         .         .         .       g.208829
 aagaaaacatctgtttacacagagtcccccacagcctcatacctacacccaatatcaaat       c.*8100

          .         .         .         .         .         .       g.208889
 gctgtataaagaaacatcagtttacacacagagccccccacaacctcatacccacaccga       c.*8160

          .         .         .         .         .         .       g.208949
 atatcaaatgctatacaaagaaacatcagtttacacacagagtcccccacagcctcatac       c.*8220

          .         .         .         .         .         .       g.209009
 ccatgcctgtcacatctttgcacagccctaaaggatccagagctttggatcagcagctgg       c.*8280

          .         .         .         .         .         .       g.209069
 ctagctcggaggccagaggagggtgctgaggggagtggaggtcagttggggtagccctgg       c.*8340

          .         .         .         .         .         .       g.209129
 gccctggctgcacagtccagctgctgtgtggcctgcatgtggtatcttaggtcatgagag       c.*8400

          .         .         .         .         .         .       g.209189
 ggcctgggcaattcagtgctatctgtacatgttggtggggtgggaaggaaaaggtaactg       c.*8460

          .         .         .         .         .         .       g.209249
 tgtatttactgtgtcctggatacattatctcatcggatgaaattcctgctaagttaagct       c.*8520

          .         .         .         .         .         .       g.209309
 ccgtttagtggacgggacttggaggctcaaagagggtaagtgacaggcccaaggatatgt       c.*8580

          .         .         .         .         .         .       g.209369
 gcctagtgaggggtgagccaggattcgatgtgtgactagtaaggggtcagccaggattca       c.*8640

          .         .         .         .         .         .       g.209429
 atatgtgactagtaaggggtcagccaggatttcatatgggactagtaaggggtcggccag       c.*8700

          .         .         .         .         .         .       g.209489
 gatttgatacgtgactagcaaggggacaagccaggatttgatatgtgactagtgaggggc       c.*8760

          .         .         .         .         .         .       g.209549
 gagccaggattcgatatgtgactagtaaggggtcagccaagatttgatatgtgactagtg       c.*8820

          .         .         .         .         .         .       g.209609
 aggggcgagacaggatttgatatgtgactagtgaggggcgagccaggatttgatatgtga       c.*8880

          .         .         .         .         .         .       g.209669
 ctggtgaggggcgagccaggatttgatatgtgactggtgaggggcgagccaggatttgat       c.*8940

          .         .         .         .         .         .       g.209729
 atgtgactggtgaggggcgagccaggatttgatatgtgactggtgaggggcgagccagga       c.*9000

          .         .         .         .         .         .       g.209789
 tttgatatgtgactggtgaggggcgagccaggatttgatatgtgactggtgaggggcgag       c.*9060

          .         .         .         .         .         .       g.209849
 ccaggatttgatatgtgactggtgaggggcgagccaggatttgatatgtgactggtgagg       c.*9120

          .         .         .         .         .         .       g.209909
 ggcgagccaggatttgatatgtgactggtgaggggcgagccaggatttgatatgtgactg       c.*9180

          .         .         .         .         .         .       g.209969
 gtgaggggcgagccaggatttgatatgtgactggtgaggggcgagccaggatttgatatg       c.*9240

          .         .         .         .         .         .       g.210029
 tgactggtgaggggtggagccagtcaggatttgatatgtggttagtgaggggttagccag       c.*9300

          .         .         .         .         .         .       g.210089
 tcaggatttgatatgtggctagtgaggggcgagccaggatttgatatgtgactagtaagg       c.*9360

          .         .         .         .         .         .       g.210149
 gggtgagccaggattcaatacgtgacaagtgaggggtgagccaggattcaatacgtgacc       c.*9420

          .         .         .         .         .         .       g.210209
 agtgaggggcgagccaggattcgatacgtgaccagtgaggggcgagccaggatgcgatac       c.*9480

          .         .         .         .         .         .       g.210269
 gtgaccagtgaggggcgagccaggattccatacgtgactagtgaggggtgagccaggatt       c.*9540

          .         .         .         .         .         .       g.210329
 cgatatgtgagtagtgaggagtgagccaggatttgatatgtggctactgaggggcgagcc       c.*9600

          .         .         .         .         .         .       g.210389
 aggatttgatatgtgactagtaaggggtcagccaggatttgatacgtgactagtcagggg       c.*9660

          .         .         .         .         .         .       g.210449
 gtcagccaggattcgatacgtgactagtaaggggtcagccaggatttgatatgtgactag       c.*9720

          .         .         .         .         .         .       g.210509
 tgaggggtgagccaggatttgacatgtgactagtgaggggtgagccaggattcaatatgt       c.*9780

          .         .         .         .         .         .       g.210569
 gactagtgaggggtgagccaggattcgatatgtacctagtgaggggtcagccaggatttg       c.*9840

          .         .         .         .         .         .       g.210629
 atatgtggctagtaaggggtgagccagccaggatttgatatgtgactagtgacgagtgag       c.*9900

          .         .         .         .         .         .       g.210689
 ccaggatttgatatgtgactagtaagggggtgaggcaggatttgatatgtgactagtaag       c.*9960

          .         .         .         .         .         .       g.210749
 ggggtgaggcaggatttgatatgtgactggtgaggggtgagacaggatttgatatgtgac       c.*10020

          .         .         .         .         .         .       g.210809
 tagtgaggggtgagccaggatttgctatgtgactagtaagggggcgagccaggatttggc       c.*10080

          .         .         .         .         .         .       g.210869
 tccagccttcattccaacatccatgccttttgtacttcaccagcagttttcaaatttatg       c.*10140

          .         .         .         .         .         .       g.210929
 ggacaaaattttacattggattccctctatacaaaatagataaaagtattttatgaatac       c.*10200

          .         .         .         .         .         .       g.210989
 attttatgagttcaaatatttttcagaagaaatcagtaaaagcattgaaaactattccag       c.*10260

          .         .         .         .         .         .       g.211049
 caaataggaagcactttaaaccaaggttatggatgaaaatgtgtgtgtatcaaccccagt       c.*10320

          .         .         .         .         .         .       g.211109
 ttacttctgggttgcacagaatagagaaatcttgatttaatccagctaagaattttcaaa       c.*10380

          .         .         .         .         .         .       g.211169
 tagtatccattttgttttgttttaaacagctcttcttgcaatggtagaggctcttcaatt       c.*10440

          .         .                                               g.211189
 aaacagagatggtaacaggc                                               c.*10460

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Vacuolar protein sorting 53 homolog (S. cerevisiae) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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