membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase (MARCH6) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_005885.3 in the MARCH6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000005.9, covering MARCH6 transcript NM_005885.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5020
                                         ttggggagctcccgcccctt       c.-241

 .         .         .         .         .         .                g.5080
 ccgcctcggcgccccgcccaggcctcgcccctaggtgttcccgcccctccccctcccgtg       c.-181

 .         .         .         .         .         .                g.5140
 tcgctcgctttctgtcagcctctctccctctccctctcccctctccttcctctcgcttcc       c.-121

 .         .         .         .         .         .                g.5200
 tctctcgcacctgagcgtacgcacctgcccgggcccggctccctcctcctctcccctccc       c.-61

 .         .         .         .         .         .                g.5260
 tctttccccgcccggccgcgggagcctcgtggctgcgtcaccgccgcccccccagacaag       c.-1

          .          | 02        .         .         .         .    g.29200
 ATGGACACCGCGGAGGAAG | ACATATGTAGAGTGTGTCGGTCAGAAGGAACACCTGAGAAA    c.60
 M  D  T  A  E  E  D |   I  C  R  V  C  R  S  E  G  T  P  E  K      p.20

          .         .         .         .         .       | 03 .    g.30124
 CCGCTTTATCATCCTTGTGTATGTACTGGCAGTATTAAGTTTATCCATCAAGAATG | CTTA    c.120
 P  L  Y  H  P  C  V  C  T  G  S  I  K  F  I  H  Q  E  C  |  L      p.40

          .         .         .         .         .         .       g.30184
 GTTCAATGGCTGAAACACAGTCGAAAAGAATACTGTGAATTATGCAAGCACAGATTTGCT       c.180
 V  Q  W  L  K  H  S  R  K  E  Y  C  E  L  C  K  H  R  F  A         p.60

          . | 04       .         .         .         .         .    g.33211
 TTTACACCAA | TTTATTCTCCAGATATGCCTTCACGGCTTCCAATTCAAGACATATTTGCT    c.240
 F  T  P  I |   Y  S  P  D  M  P  S  R  L  P  I  Q  D  I  F  A      p.80

          .         .         .         .         .         .       g.33271
 GGACTGGTTACAAGTATTGGCACTGCAATACGATATTGGTTTCATTATACACTTGTGGCC       c.300
 G  L  V  T  S  I  G  T  A  I  R  Y  W  F  H  Y  T  L  V  A         p.100

          .         .         .     | 05   .         .         .    g.38381
 TTTGCATGGTTGGGAGTTGTTCCTCTTACAGCAT | GCCGCATCTACAAGTGCTTGTTTACT    c.360
 F  A  W  L  G  V  V  P  L  T  A  C |   R  I  Y  K  C  L  F  T      p.120

          .         .         .         .        | 06.         .    g.41706
 GGCTCCGTGAGCTCACTACTGACGCTGCCATTAGATATGCTGTCAAC | GGAAAATTTGTTG    c.420
 G  S  V  S  S  L  L  T  L  P  L  D  M  L  S  T  |  E  N  L  L      p.140

          .         .         .         .         .         .       g.41766
 GCAGATTGTTTGCAGGGTTGTTTTGTGGTGACGTGCACACTGTGTGCATTCATCAGCCTG       c.480
 A  D  C  L  Q  G  C  F  V  V  T  C  T  L  C  A  F  I  S  L         p.160

          .         .         .         .         .         .       g.41826
 GTGTGGTTGAGAGAGCAGATAGTCCATGGGGGAGCACCAATTTGGTTGGAGCATGCTGCC       c.540
 V  W  L  R  E  Q  I  V  H  G  G  A  P  I  W  L  E  H  A  A         p.180

          .         .         .       | 07 .         .         .    g.42927
 CCACCGTTCAATGCTGCGGGGCATCACCAAAATGAG | GCTCCAGCAGGAGGAAATGGTGCA    c.600
 P  P  F  N  A  A  G  H  H  Q  N  E   | A  P  A  G  G  N  G  A      p.200

          .         .         .         .         .         .       g.42987
 GAAAATGTTGCTGCTGATCAGCCTGCTAACCCACCAGCTGAGAACGCAGTGGTGGGGGAA       c.660
 E  N  V  A  A  D  Q  P  A  N  P  P  A  E  N  A  V  V  G  E         p.220

          .         .         .         .         .         .       g.43047
 AACCCTGATGCCCAGGATGACCAGGCAGAAGAGGAGGAGGAGGACAATGAGGAGGAAGAT       c.720
 N  P  D  A  Q  D  D  Q  A  E  E  E  E  E  D  N  E  E  E  D         p.240

          .         .         .         .       | 08 .         .    g.45457
 GACGCTGGTGTGGAGGATGCGGCAGATGCTAATAACGGAGCCCAGG | ATGACATGAATTGG    c.780
 D  A  G  V  E  D  A  A  D  A  N  N  G  A  Q  D |   D  M  N  W      p.260

          .         .         .         .         | 09         .    g.46126
 AATGCTTTAGAATGGGACCGAGCTGCTGAAGAGCTTACATGGGAAAGA | ATGCTAGGACTT    c.840
 N  A  L  E  W  D  R  A  A  E  E  L  T  W  E  R   | M  L  G  L      p.280

          .         .  | 10      .         .         .         .    g.48693
 GATGGATCACTAGTTTTTCTG | GAACATGTCTTCTGGGTGGTATCTTTAAATACACTGTTC    c.900
 D  G  S  L  V  F  L   | E  H  V  F  W  V  V  S  L  N  T  L  F      p.300

          .    | 11    .         .         .         .         .    g.52192
 ATTCTTGTTTTTG | CATTTTGCCCTTACCATATTGGTCATTTCTCCCTTGTTGGTTTGGGA    c.960
 I  L  V  F  A |   F  C  P  Y  H  I  G  H  F  S  L  V  G  L  G      p.320

          .   | 12     .         .         .         .         .    g.53468
 TTTGAAGAACAC | GTCCAAGCATCTCATTTTGAAGGCCTAATCACAACCATAGTTGGGTAT    c.1020
 F  E  E  H   | V  Q  A  S  H  F  E  G  L  I  T  T  I  V  G  Y      p.340

          .         .         .    | 13    .         .         .    g.53772
 ATACTTTTAGCAATAACACTGATAATTTGTCAT | GGCTTGGCAACTCTTGTGAAATTTCAT    c.1080
 I  L  L  A  I  T  L  I  I  C  H   | G  L  A  T  L  V  K  F  H      p.360

          .         .         .         .   | 14     .         .    g.53912
 AGATCTCGTCGCTTACTGGGAGTCTGCTATATTGTTGTTAAG | GTCTCTTTGTTAGTGGTG    c.1140
 R  S  R  R  L  L  G  V  C  Y  I  V  V  K   | V  S  L  L  V  V      p.380

          .         .         .         .         .        | 15.    g.54771
 GTAGAAATTGGAGTATTCCCTCTCATTTGTGGTTGGTGGCTGGATATCTGTTCCTTG | GAA    c.1200
 V  E  I  G  V  F  P  L  I  C  G  W  W  L  D  I  C  S  L   | E      p.400

          .         .         .         .         .         .       g.54831
 ATGTTTGATGCTACTCTGAAAGATCGAGAACTGAGCTTTCAGTCGGCTCCAGGTACTACC       c.1260
 M  F  D  A  T  L  K  D  R  E  L  S  F  Q  S  A  P  G  T  T         p.420

          .         .         .         .         .         .       g.54891
 ATGTTTCTGCATTGGCTAGTGGGAATGGTATATGTCTTCTACTTTGCCTCCTTCATTCTA       c.1320
 M  F  L  H  W  L  V  G  M  V  Y  V  F  Y  F  A  S  F  I  L         p.440

          .   | 16     .         .         .         .         .    g.56967
 CTACTGAGAGAG | GTACTTCGACCTGGTGTCCTGTGGTTTCTAAGGAATTTGAATGATCCA    c.1380
 L  L  R  E   | V  L  R  P  G  V  L  W  F  L  R  N  L  N  D  P      p.460

          .         .         .         .         .         .       g.57027
 GATTTCAATCCAGTACAGGAAATGATCCATTTGCCAATATATAGGCATCTCCGAAGATTT       c.1440
 D  F  N  P  V  Q  E  M  I  H  L  P  I  Y  R  H  L  R  R  F         p.480

          .   | 17     .         .         .         .         .    g.58511
 ATTTTGTCAGTG | ATTGTCTTTGGCTCCATTGTCCTCCTGATGCTTTGGCTTCCTATACGT    c.1500
 I  L  S  V   | I  V  F  G  S  I  V  L  L  M  L  W  L  P  I  R      p.500

          .         .         .         .         .    | 18    .    g.61507
 ATAATTAAGAGTGTGCTGCCTAATTTTCTTCCATACAATGTCATGCTCTACAG | TGATGCT    c.1560
 I  I  K  S  V  L  P  N  F  L  P  Y  N  V  M  L  Y  S  |  D  A      p.520

          .         .         .         .         .         .       g.61567
 CCAGTGAGTGAACTGTCCCTCGAGCTGCTTCTGCTTCAGGTTGTCTTGCCAGCATTACTC       c.1620
 P  V  S  E  L  S  L  E  L  L  L  L  Q  V  V  L  P  A  L  L         p.540

          .         .         .         .         .         .       g.61627
 GAACAGGGACACACGAGGCAGTGGCTGAAGGGGCTGGTGCGAGCGTGGACTGTGACCGCC       c.1680
 E  Q  G  H  T  R  Q  W  L  K  G  L  V  R  A  W  T  V  T  A         p.560

          .  | 19      .         .         .         .         .    g.62743
 GGATACTTGCT | GGATCTTCATTCTTATTTATTGGGAGACCAGGAAGAAAATGAAAACAGT    c.1740
 G  Y  L  L  |  D  L  H  S  Y  L  L  G  D  Q  E  E  N  E  N  S      p.580

          .         .         .         .         .         .       g.62803
 GCAAATCAACAAGTTAACAATAATCAGCATGCTCGAAATAACAACGCTATTCCTGTGGTG       c.1800
 A  N  Q  Q  V  N  N  N  Q  H  A  R  N  N  N  A  I  P  V  V         p.600

          .         .         .         .         .         .       g.62863
 GGAGAAGGCCTTCATGCAGCCCACCAAGCCATACTCCAGCAGGGAGGGCCTGTTGGCTTT       c.1860
 G  E  G  L  H  A  A  H  Q  A  I  L  Q  Q  G  G  P  V  G  F         p.620

          .         .         .       | 20 .         .         .    g.65818
 CAGCCTTACCGCCGACCTTTAAATTTTCCACTCAGG | ATATTTCTGTTGATTGTCTTCATG    c.1920
 Q  P  Y  R  R  P  L  N  F  P  L  R   | I  F  L  L  I  V  F  M      p.640

          .         .         .         .       | 21 .         .    g.66863
 TGTATAACATTACTGATTGCCAGCCTCATCTGCCTTACTTTACCAG | TATTTGCTGGCCGT    c.1980
 C  I  T  L  L  I  A  S  L  I  C  L  T  L  P  V |   F  A  G  R      p.660

          .         .         .         .         .         .       g.66923
 TGGTTAATGTCGTTTTGGACGGGGACTGCCAAAATCCATGAGCTCTACACAGCTGCTTGT       c.2040
 W  L  M  S  F  W  T  G  T  A  K  I  H  E  L  Y  T  A  A  C         p.680

          .         .         .         .         .         .       g.66983
 GGTCTCTATGTTTGCTGGCTAACCATAAGGGCTGTGACGGTGATGGTGGCATGGATGCCT       c.2100
 G  L  Y  V  C  W  L  T  I  R  A  V  T  V  M  V  A  W  M  P         p.700

          .         .         .         .         | 22         .    g.68643
 CAGGGACGCAGAGTGATCTTCCAGAAGGTTAAAGAGTGGTCTCTCATG | ATCATGAAGACT    c.2160
 Q  G  R  R  V  I  F  Q  K  V  K  E  W  S  L  M   | I  M  K  T      p.720

          .         .         .         .         .         .       g.68703
 TTGATAGTTGCGGTGCTGTTGGCTGGAGTTGTCCCTCTCCTTCTGGGGCTCCTGTTTGAG       c.2220
 L  I  V  A  V  L  L  A  G  V  V  P  L  L  L  G  L  L  F  E         p.740

          .         .         .         .         .         .       g.68763
 CTGGTCATTGTGGCTCCCCTGAGGGTTCCCTTGGATCAGACTCCTCTTTTTTATCCATGG       c.2280
 L  V  I  V  A  P  L  R  V  P  L  D  Q  T  P  L  F  Y  P  W         p.760

     | 23    .         .         .         .         .         .    g.75153
 CAG | GACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGT    c.2340
 Q   | D  W  A  L  G  V  L  H  A  K  I  I  A  A  I  T  L  M  G      p.780

          .         .         .    | 24    .         .         .    g.77778
 CCTCAGTGGTGGTTGAAAACTGTAATTGAACAG | GTTTACGCAAATGGCATCCGGAACATT    c.2400
 P  Q  W  W  L  K  T  V  I  E  Q   | V  Y  A  N  G  I  R  N  I      p.800

          .         .         .         .         .         .       g.77838
 GACCTTCACTATATTGTTCGTAAACTGGCAGCTCCCGTGATCTCTGTGCTGTTGCTTTCC       c.2460
 D  L  H  Y  I  V  R  K  L  A  A  P  V  I  S  V  L  L  L  S         p.820

          .         .         .         .       | 25 .         .    g.81268
 CTGTGTGTACCTTATGTCATAGCTTCTGGTGTTGTTCCTTTACTAG | GTGTTACTGCGGAA    c.2520
 L  C  V  P  Y  V  I  A  S  G  V  V  P  L  L  G |   V  T  A  E      p.840

          .         .         .         .         .         .       g.81328
 ATGCAAAACTTAGTCCATCGGCGGATTTATCCATTTTTACTGATGGTCGTGGTATTGATG       c.2580
 M  Q  N  L  V  H  R  R  I  Y  P  F  L  L  M  V  V  V  L  M         p.860

          .         .         .         .         .         .       g.81388
 GCAATTTTGTCCTTCCAAGTCCGCCAGTTTAAGCGCCTTTATGAACATATTAAAAATGAC       c.2640
 A  I  L  S  F  Q  V  R  Q  F  K  R  L  Y  E  H  I  K  N  D         p.880

    | 26     .         .         .         .         .         .    g.85013
 AA | GTACCTTGTGGGTCAACGACTCGTGAACTACGAACGGAAATCTGGCAAACAAGGCTCA    c.2700
 K  |  Y  L  V  G  Q  R  L  V  N  Y  E  R  K  S  G  K  Q  G  S      p.900

          .         .         .                                     g.85046
 TCTCCACCACCTCCACAGTCATCCCAAGAATAA                                  c.2733
 S  P  P  P  P  Q  S  S  Q  E  X                                    p.910

          .         .         .         .         .         .       g.85106
 agtagttgtctcaacaacttgaccttcccctttacatgtccttttttgtggacttctctc       c.*60

          .         .         .         .         .         .       g.85166
 tttggagatttttcccagtgatctctcagcgttgtttttaagttaaatgtatttgacttg       c.*120

          .         .         .         .         .         .       g.85226
 tgttctcagcattcagagagcagcggtgtaagattctgctgttctccctggatcttctga       c.*180

          .         .         .         .         .         .       g.85286
 cattactgctgtctgagatttgtatatgtgtaaatacaagttccttgataccctaaaacc       c.*240

          .         .         .         .         .         .       g.85346
 ttggattaaacagaatgtgcattgtacatctttaaacaaaatgtatattaatttattaaa       c.*300

          .         .         .         .         .         .       g.85406
 tctagttgtcactttattttggacctgctgtgatctcgacaggaaacgtgccacagagca       c.*360

          .         .         .         .         .         .       g.85466
 gtagtgcgcaggcaagacttttcagtgacgccttgtggaacgcagttcatgatgtcctag       c.*420

          .         .         .         .         .         .       g.85526
 cagctctcactaagggaactgtacattctttctttcttggctattcagaccttaccaaga       c.*480

          .         .         .         .         .         .       g.85586
 acgttaaaggaaacaagtagaaatcagcagtggagtgtctgtggtaagaaaacatgaact       c.*540

          .         .         .         .         .         .       g.85646
 ttatgcttcactgttagttgtttgtggaagttattttgtataacaccaaagctgttgtac       c.*600

          .         .         .         .         .         .       g.85706
 atttcctactgcctgatttttttcatgtgtctgtgtttgtaatattgtatagtatcttgt       c.*660

          .         .         .         .         .         .       g.85766
 gctaggtgaggaaattatttttaattttgataatttaatattcctagtgtgatcagcatt       c.*720

          .         .         .         .         .         .       g.85826
 gggagttgggtttcagtggggcatgtctatacttagagaaaaaaagtccaaatgaagatt       c.*780

          .         .         .         .         .         .       g.85886
 ttcatgagtcagcccccccgcccgcccccaccccacacccacatcctctcttttccacac       c.*840

          .         .         .         .         .         .       g.85946
 acaactatctgtttattttttgtagcagtggccgaaagtcctgcaaggtcataaatcttt       c.*900

          .         .         .         .         .         .       g.86006
 cagagtgacatcaccaactgtactgcatcttactggatttaggacttctgagatgcttgt       c.*960

          .         .         .         .         .         .       g.86066
 gaagtatagatgtggttgtggtcttagattgacagcattagagaagactggttagaacat       c.*1020

          .         .         .         .         .         .       g.86126
 ctggtctcgctggttagtgcctcgttggctgaggactaggtgtgcatttctcctagcttt       c.*1080

          .         .         .         .         .         .       g.86186
 tcatcaggaaatcccaaagtttccaaagctttttgtttacagaataaaacttcaaataaa       c.*1140

          .         .         .         .         .         .       g.86246
 accaattcattatttgtccagaaggaagcttggctgagctggccttttaacataggaatg       c.*1200

          .         .         .         .         .         .       g.86306
 tatttcgttggaaacattctgaaaaatctcagagaactgaacccttacaaactttgtttt       c.*1260

          .         .         .         .         .         .       g.86366
 ccctcataaccaaagcttcaggttagaagtttagaaaaatagaatggttgggtacatgat       c.*1320

          .         .         .         .         .         .       g.86426
 ctaaatgtttaatgctaaaggtatatcgtaagggtagtgtttgtttttgaacgataattt       c.*1380

          .         .         .         .         .         .       g.86486
 agaagttctcatagaaagcgtataacataggtcttcagaaactataaaagaattttcata       c.*1440

          .         .         .         .         .         .       g.86546
 tagtattaaaatccatagactaaaatctgagaattttttaacatatgcaagtcagccaaa       c.*1500

          .         .         .         .         .         .       g.86606
 cataagctaccaaaataaagagcaatgtgttctggctgttttatacttcaacaatttttt       c.*1560

          .         .         .         .         .         .       g.86666
 ccctaagtggtaagcaattactttaaaacatatttttaaaaacatcggtatcgggagctg       c.*1620

          .         .         .         .         .         .       g.86726
 cggtggctccggccggttgtcctggcacacaaggaggcgaggctatgcgttcgaggccaa       c.*1680

          .         .         .         .         .         .       g.86786
 cctaggcaaaattggaaaaaaaaaaaaaaatcagtatcagaaataatgcttgacatagga       c.*1740

          .         .         .         .         .         .       g.86846
 ttcagtgttatactctttggcactttagagcagccttttctctcatttgaaataaggtct       c.*1800

          .         .         .         .         .         .       g.86906
 ttgttagccctacctttactcagaaatttagtcctactataaaaaattaggattttaaaa       c.*1860

          .         .         .         .         .         .       g.86966
 tataatgctgcctgtcatagtgtatttctaaattgctctctttgggagaaaaacattatt       c.*1920

          .         .         .         .         .         .       g.87026
 attgaattgagcatataactatataactatataactatatatatatatatatatatatat       c.*1980

          .         .         .         .         .         .       g.87086
 atatatatatatatatatatatatatatatatattttttttttttttttttttttttttt       c.*2040

          .         .         .         .         .         .       g.87146
 ttttgcccccgagacagagtcttactctgttgcccaggctggagtgcagtggcacgatcc       c.*2100

          .         .         .         .         .         .       g.87206
 tggttcactgcaccctctgcctcccaggttcaagcgattctcctgcctcagcctcccaag       c.*2160

          .         .         .         .         .         .       g.87266
 tagctggtactacaggtgcgtgccaccacacctggcttattttagttattttagtagaga       c.*2220

          .         .         .         .         .         .       g.87326
 tagggtttcaccatgttggccaggctggtctcggaactcctgactgcaggtgatccgtcc       c.*2280

          .         .         .         .         .         .       g.87386
 tccttgggctcccaaagtgctgggattataggtgtgagcccccacgcctggccaacttga       c.*2340

          .         .         .         .         .         .       g.87446
 ttatattaattttgggttttttgttttgttttgttttgttttttaatttttcaaagaatt       c.*2400

          .         .         .         .         .         .       g.87506
 tgtggatcttggtataaagtcattggaacatatctgttttaacagcaagagatcctaggc       c.*2460

          .         .         .         .         .         .       g.87566
 agatacttcaaaaggttaaaaattcttaatcctacagaattttaaatgaatcttatcaat       c.*2520

          .         .         .         .         .         .       g.87626
 gttttgtaaacaaacaatatgaatggccaaaaaattgccctccattttactggcaggtaa       c.*2580

          .         .         .         .         .         .       g.87686
 tttatattgtcttacttaagaattctcccctagtttttcaattgtactttatcgtgttgt       c.*2640

          .         .         .         .         .         .       g.87746
 tttcaatgagataagtattttcatagggaaagcattttccagcataatatttgcttgggt       c.*2700

          .         .         .         .         .         .       g.87806
 agcatccgggttttagtatttaaccaagagccttttaaatattgaaaacccatagttcag       c.*2760

          .         .         .         .         .         .       g.87866
 aaaatgttagtattgctgcccttcttcacataaatttttttttaaattatactattattt       c.*2820

          .         .         .         .         .         .       g.87926
 tgcttaattttatattgggttaaaacaaccttcaagaaggttaactaggaaagaagacct       c.*2880

          .         .         .         .         .         .       g.87986
 ttttgttttatttttactatttatatatagaagacaaatcagcatttggtgatagtttta       c.*2940

          .         .         .         .         .         .       g.88046
 catgaccagttatcaaacggtcatagtatgaagtgtgcagttgttcattattagtaaatt       c.*3000

          .         .         .         .         .         .       g.88106
 atgtttgatttttaaactatttagtactaatagttgagatgaaaactgaagaaaaatgcc       c.*3060

          .         .         .         .         .         .       g.88166
 aatgtgacgtttgtgtatagctagccttaaaaaacttcccatgtttttaggtgacttttt       c.*3120

          .         .         .         .         .         .       g.88226
 tccccctcttagtactctggagaaacaatgaagatgggccatctcaattccagatgtaaa       c.*3180

          .         .         .         .         .         .       g.88286
 caaaaagtaatttttatttcaacatttaatgtaactgctattattgtggattcttgtctt       c.*3240

          .         .         .         .         .         .       g.88346
 gtgtattttctttcccttattcaagtaatatagaataactttccttaaaatgatttgatc       c.*3300

          .         .         .         .         .         .       g.88406
 caagatacgtcatttctgtattggcaaaatgccactattaaagtgtaattcttgaattta       c.*3360

          .         .         .         .         .         .       g.88466
 ggttgaattgatgactttttaaaacaaaacaaacactggacagttctacattgtattgcg       c.*3420

          .         .         .         .         .         .       g.88526
 tttgcgaatgtgcgtgaacacacgcacacgtgcaggagaatgtagtgccataagaacact       c.*3480

          .         .         .         .         .         .       g.88586
 ggcgctttttaaaactttccaagctagctacttattttcattttcagggttgagtactct       c.*3540

          .         .         .         .         .         .       g.88646
 aagctctctacttactgtgagaagttttctacattgtaaaattaaaagattatatttaaa       c.*3600

          .         .         .         .         .         .       g.88706
 atacttctttaggatgttattcagccatcaaaaaaaaacccaactaaaatgtcttaccag       c.*3660

          .         .         .         .         .         .       g.88766
 taaagtattattaaaagcctcatttgtggagattcgctgacttccttggttaagctgtct       c.*3720

          .         .         .         .         .         .       g.88826
 tgtatttacttaatttgtcccctcaaccaggtgttttcttttcagcctgttactgtcctg       c.*3780

          .         .         .         .         .         .       g.88886
 tgccatttttaaaaatagccatcatgagtaagggcttctttaaaataatccctgacaata       c.*3840

          .         .         .         .         .         .       g.88946
 tctttggcattaatacgacataaagacaagacagtatatgtatgttttcattcctgtttt       c.*3900

          .         .         .         .         .         .       g.89006
 gtacgagtgcctcattttgtagtcatgaaagtaacatagtaccttaaataaaaatgtaat       c.*3960

          .         .         .         .         .         .       g.89066
 gactaatctaaggtctaggaataactattgtagaagctaagtagaacacttagtttgggg       c.*4020

          .         .         .         .         .         .       g.89126
 tgtcaattttctatcaacgcaaacaccttagggtacccagaccaattttatgtatatata       c.*4080

          .         .         .         .         .         .       g.89186
 ttctgaaatgctccctttttaatgtggtcatttgttgccttctaagttgagaggacaaaa       c.*4140

          .         .         .         .         .         .       g.89246
 ctgaataaagtgaatgttaattgtagtctagtttttttgtttgtttttgtgttattgcaa       c.*4200

          .         .         .         .         .         .       g.89306
 gattgctttaagattgcagaaatatgcattattagccagcatagataatccagatgttat       c.*4260

          .         .         .         .         .         .       g.89366
 aataggaaggaaaaacaactccagttaaatgtgactgtggcgactcccttttatgtatac       c.*4320

          .         .         .         .         .         .       g.89426
 atttaaatgcatagttgcagaggacacatccctccccttctgtctccctaacttgaactg       c.*4380

          .         .         .         .         .         .       g.89486
 tagaccgtcctcactgggaagagtaaggccccacattttgtgcaatagcaagctactgcc       c.*4440

          .         .         .         .         .         .       g.89546
 cacttctgcatgtctgctacgagatcagaaagtcagtttcactaaggttgtcttttagct       c.*4500

          .         .         .         .         .         .       g.89606
 gaatacttagagtaaaaccaatcaaatccattgtacatacctgaccatatgtcccagata       c.*4560

          .         .         .         .         .         .       g.89666
 aaaaggaaagacttgcgtgatgtttttttccttctgagtgccctgaggagatccttttgc       c.*4620

          .         .         .         .         .         .       g.89726
 ttcagactatttctaatttttctttgtttataggttcagaattttttccatgattgtttt       c.*4680

          .         .         .         .         .         .       g.89786
 cccccaaacaagtgcatttttaattactttaaatgcaggggtgatagaggaaatgctatt       c.*4740

          .         .         .         .         .         .       g.89846
 cgaaccatagacatctttaatctgtgaagctgaaatttttcagcaaaggaaattgcatgg       c.*4800

          .         .         .         .         .         .       g.89906
 tcaagttcagaaactggccattaatttcccccttccgctccacagttcatagctactctt       c.*4860

          .         .         .         .         .         .       g.89966
 gttgcaaacatgtagtgataaggagaactaacgtatcaaggggctgagagggtaacgttc       c.*4920

          .         .         .         .         .         .       g.90026
 ccctcctcctccatgtttttattttggtgtctgttttgtttctagcactgtatttagtac       c.*4980

          .         .         .         .         .         .       g.90086
 tgtagttgaatgaggtatgatgtctcccttcaaggaactcagaatggaacagaagcatga       c.*5040

          .         .         .         .         .         .       g.90146
 gcaaaagattgtattacagaggtatgaataaaatgccatggggaacacagagaaaggttc       c.*5100

          .         .         .         .         .         .       g.90206
 acccgggagagatggcctagccacttccttagtgactgtttggtatatgtaggtccccct       c.*5160

          .         .         .         .         .         .       g.90266
 gccattactctttcagccttctgcaatctagttctacttagtcacacacttctctaagac       c.*5220

          .         .         .         .         .         .       g.90326
 cactcatacgtaaacactacgtagaggcccctttttgcctcattttacattgtttagtta       c.*5280

          .         .         .         .         .         .       g.90386
 tcattttgaaacttttcttcacatatgtaacagtgccggagtttttctgcttctctgtgt       c.*5340

          .         .         .         .         .         .       g.90446
 ttgttcagtaactcttctttaggatacacctaaagatgagaagcttcatacccagtactc       c.*5400

          .         .         .         .         .         .       g.90506
 ctcttcattcactcatatgtttttgggatcagtcccttctgctggctgtgcattggtcta       c.*5460

          .         .         .         .         .         .       g.90566
 atggaacagaatagagtccagaaataacccaacatgtatgtggacaactggtttttgaca       c.*5520

          .         .         .         .         .         .       g.90626
 gaggtgcaaaggtcttgaaaaaatgatgctggaataattgggcatcagatgcaaaattaa       c.*5580

          .         .         .         .         .         .       g.90686
 aaacaaattgatccatatcttaacactggcaaagattaaagtccaaatggattatagttc       c.*5640

          .         .         .         .         .         .       g.90746
 cccaaaactgtataatttctagaagacaacaaggaaaacgtgttcagccttgggttagga       c.*5700

          .         .         .         .         .         .       g.90806
 aaagatttcttaaatccaacaccaaaagcacaatccatgaaggaaaaatcgataaattgt       c.*5760

          .         .         .         .         .         .       g.90866
 actttatcaaaattgagaacttctctttgaaaggtaccataaggagaacaaaaagacaag       c.*5820

          .         .         .         .         .         .       g.90926
 ctgtagagtggcagaaaaatatttgcaaaacatttctgataaatgagttgcatctagatt       c.*5880

          .         .         .         .         .         .       g.90986
 acataaagaagtctcaaaactgaacaagtaaacccattgtttacttaatcgctgtttctc       c.*5940

          .         .         .         .         .         .       g.91046
 ctgagcttgctgcctctgcccctgctctctctccttttccatttgttttcaacattgaat       c.*6000

          .         .         .         .         .         .       g.91106
 ccagaatgttcttcttgagatccaagtcagatcacaccaaccctcagaactctccaatag       c.*6060

          .         .         .         .         .         .       g.91166
 acgaccatggcactcaaaagtccacaatagccttcaatgctgggcaaaacatgaagcacc       c.*6120

          .         .         .         .         .         .       g.91226
 ccttttctcccttctctgaccccatcacctctgtgttcaccctgctcctgccgtcctccc       c.*6180

          .         .         .         .         .         .       g.91286
 tgcctccaaaacaggtcaggccttcgtgcctttgcacttactatttgcaatacccaaatg       c.*6240

          .         .         .         .         .         .       g.91346
 ttcttcaggctctttagcctcttcatttctttcctgaagtgtcattctcactgaggctta       c.*6300

          .         .         .         .         .         .       g.91406
 tctaaagctgcagctactggggcattcctgtctcatctccctgctgtattttgtactccc       c.*6360

          .         .         .         .         .         .       g.91466
 ggctctcttttgtacttttaaacatactatatggtttacctttgttgtttatatttgcat       c.*6420

          .         .         .         .         .         .       g.91526
 gttgtttcccacttgaatgtaagctccaaagattttatttttttaaactgaattattact       c.*6480

          .         .         .         .         .         .       g.91586
 gtattcccagaacaattccctggcaaatatttggtactcaatagtaatgctaagttagta       c.*6540

          .         .         .         .         .         .       g.91646
 aataaatgatgaatttagaatcaaaataatgtgtctatggccaaaataaaacctgaaatc       c.*6600

          .         .         .         .         .         .       g.91706
 cctgtcctatttcccagaggtaactgctgttaatagtttagttgtgtgcttccagacata       c.*6660

          .         .         .         .                           g.91750
 ccttcacagaatcatttatcacaataaaggtgtcatactatgca                       c.*6704

 (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 Membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 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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