additional sex combs like 3 (Drosophila) (ASXL3) - coding DNA reference sequence

(used for variant description)

(last modified February 3, 2025)


This file was created to facilitate the description of sequence variants on transcript NM_030632.1 in the ASXL3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000018.9, covering ASXL3 transcript NM_030632.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5055
      gagcaccccgtggaatcccccacgtcatcatcagaaccatcaatgagatgcaaac       c.-1

          .         .         .         .         .     | 02   .    g.34023
 ATGAAAGACAAGAGGAAGAAGAAGGACCGCACCTGGGCCGAGGCTGCCCGCCTG | GCACTA    c.60
 M  K  D  K  R  K  K  K  D  R  T  W  A  E  A  A  R  L   | A  L      p.20

          .         .         .         .         .         .       g.34083
 GAAAAACACCCCAACTCACCAATGACAGCAAAGCAGATATTGGAAGTCATTCAGAAAGAA       c.120
 E  K  H  P  N  S  P  M  T  A  K  Q  I  L  E  V  I  Q  K  E         p.40

          .        | 03.         .         .         .         .    g.71360
 GGGTTAAAAGAAACAAG | TGGAACCTCTCCATTAGCCTGTCTGAATGCAATGCTTCACACT    c.180
 G  L  K  E  T  S  |  G  T  S  P  L  A  C  L  N  A  M  L  H  T      p.60

          .         .         .         .         .         .       g.71420
 AACACTCGAATAGGGGATGGAACATTCTTCAAAATCCCTGGAAAGTCAGGCCTCTATGCT       c.240
 N  T  R  I  G  D  G  T  F  F  K  I  P  G  K  S  G  L  Y  A         p.80

        | 04 .         .         .         .         .         .    g.72722
 CTCAAA | AAAGAGGAGTCGTCATGCCCAGCAGATGGCACGTTGGATTTAGTCTGTGAATCT    c.300
 L  K   | K  E  E  S  S  C  P  A  D  G  T  L  D  L  V  C  E  S      p.100

          .         .         .         .         .      | 05  .    g.88044
 GAATTGGATGGTACAGATATGGCCGAGGCAAATGCCCATGGAGAAGAAAATGGAG | TTTGT    c.360
 E  L  D  G  T  D  M  A  E  A  N  A  H  G  E  E  N  G  V |   C      p.120

          .         .         .         .         .         .       g.88104
 TCGAAGCAGGTAACTGATGAAGCATCTTCCACTCGAGATTCAAGCCTTACTAACACAGCA       c.420
 S  K  Q  V  T  D  E  A  S  S  T  R  D  S  S  L  T  N  T  A         p.140

          .         .         .         .         .        | 06.    g.97099
 GTGCAAAGCAAGTTAGTGTCTTCCTTCCAGCAGCACACCAAAAAGGCTCTTAAACAG | GCT    c.480
 V  Q  S  K  L  V  S  S  F  Q  Q  H  T  K  K  A  L  K  Q   | A      p.160

          .         .         .         .         .         .       g.97159
 TTGAGGCAGCAGCAGAAAAGAAGAAATGGAGTCTCAATGATGGTAAACAAGACTGTTCCT       c.540
 L  R  Q  Q  Q  K  R  R  N  G  V  S  M  M  V  N  K  T  V  P         p.180

          .         .         .         .         .      | 07  .    g.98175
 CGTGTTGTTTTGACACCATTAAAGGTGTCTGATGAGCAGTCGGATTCGCCTTCAG | GATCT    c.600
 R  V  V  L  T  P  L  K  V  S  D  E  Q  S  D  S  P  S  G |   S      p.200

          .         .         .         .         .         .       g.98235
 GAATCTAAAAATGGTGAAGCAGACAGTTCAGATAAAGAAATGAAACATGGGCAAAAATCT       c.660
 E  S  K  N  G  E  A  D  S  S  D  K  E  M  K  H  G  Q  K  S         p.220

          .         .         .         .         .      | 08  .    g.109833
 CCCACTGGAAAACAAACAAGTCAGCACTTAAAACGATTAAAAAAGTCTGGTTTAG | GGCAC    c.720
 P  T  G  K  Q  T  S  Q  H  L  K  R  L  K  K  S  G  L  G |   H      p.240

          .         .         .         .         .         .       g.109893
 TTGAAATGGACCAAAGCTGAGGACATTGACATAGAAACCCCAGGATCTATTCTTGTCAAC       c.780
 L  K  W  T  K  A  E  D  I  D  I  E  T  P  G  S  I  L  V  N         p.260

          .         .         .         .         .         .       g.109953
 ACTAACTTGAGGGCATTAATAAATAAACATACGTTTGCTTCCTTACCTCAGCATTTTCAA       c.840
 T  N  L  R  A  L  I  N  K  H  T  F  A  S  L  P  Q  H  F  Q         p.280

          .         .         .          | 09        .         .    g.158412
 CAATACCTCCTGCTTTTGCTCCCAGAAGTGGATAGGCAG | ATGGGAAGTGATGGAATTTTA    c.900
 Q  Y  L  L  L  L  L  P  E  V  D  R  Q   | M  G  S  D  G  I  L      p.300

          .         .         .         .         .         .       g.158472
 CGCCTCAGTACTTCAGCTCTAAATAATGAATTCTTTGCATATGCAGCACAAGGGTGGAAA       c.960
 R  L  S  T  S  A  L  N  N  E  F  F  A  Y  A  A  Q  G  W  K         p.320

          .       | 10 .         .         .         .         .    g.160777
 CAGCGACTGGCAGAAG | GAGAGTTTACCCCAGAAATGCAGTTGCGGATAAGGCAAGAAATT    c.1020
 Q  R  L  A  E  G |   E  F  T  P  E  M  Q  L  R  I  R  Q  E  I      p.340

          .         .         .         .         .         .       g.160837
 GAGAAGGAAAAGAAAACAGAACCTTGGAAAGAAAAATTCTTTGAGAGGTTTTATGGAGAA       c.1080
 E  K  E  K  K  T  E  P  W  K  E  K  F  F  E  R  F  Y  G  E         p.360

    | 11     .         .         .         .         .         .    g.164968
 AA | GCTGGGCATGTCAAGAGAGGAATCTGTGAAGCTCACTACTGGACCAAACAACGCTGGA    c.1140
 K  |  L  G  M  S  R  E  E  S  V  K  L  T  T  G  P  N  N  A  G      p.380

          .         .         .         .         .         .       g.165028
 GCTCAAAGTAGTTCTTCATGTGGGACTTCTGGCCTTCCAGTTTCTGCACAGACAGCCTTG       c.1200
 A  Q  S  S  S  S  C  G  T  S  G  L  P  V  S  A  Q  T  A  L         p.400

          .         .         .         .         .         .       g.165088
 GCAGAACAACAGCCAAAAAGCATGAAAAGCCCAGCTTCTCCAGAGCCTGGTTTCTGTGCT       c.1260
 A  E  Q  Q  P  K  S  M  K  S  P  A  S  P  E  P  G  F  C  A         p.420

          .         .         .         .         .         .       g.165148
 ACTCTTTGCCCTATGGTAGAAATTCCACCTAAAGATATAATGGCAGAATTGGAGTCAGAG       c.1320
 T  L  C  P  M  V  E  I  P  P  K  D  I  M  A  E  L  E  S  E         p.440

          .         .         .         .         .         .       g.165208
 GATATCTTGATCCCTGAAGAATCTGTAATTCAGGAGGAAATTGCAGAAGAGGTAGAGACT       c.1380
 D  I  L  I  P  E  E  S  V  I  Q  E  E  I  A  E  E  V  E  T         p.460

          .         .         .         .         .         .       g.165268
 AGTATCTGTGAATGCCAGGATGAAAATCATAAGACAATACCTGAATTTTCTGAGGAGGCT       c.1440
 S  I  C  E  C  Q  D  E  N  H  K  T  I  P  E  F  S  E  E  A         p.480

          .         .         .         .         .         .       g.165328
 GAAAGTCTAACCAATTCTCATGAAGAACCCCAAATAGCACCTCCTGAAGATAACTTGGAA       c.1500
 E  S  L  T  N  S  H  E  E  P  Q  I  A  P  P  E  D  N  L  E         p.500

          .         .         .         .         .         .       g.165388
 TCCTGTGTTATGATGAATGATGTTTTAGAAACTTTGCCTCATATTGAAGTTAAGATAGAA       c.1560
 S  C  V  M  M  N  D  V  L  E  T  L  P  H  I  E  V  K  I  E         p.520

          .         .         .         .         .         .       g.165448
 GGGAAGTCAGAATCACCCCAGGAAGAAATGACAGTTGTTATCGATCAGTTAGAAGTCTGT       c.1620
 G  K  S  E  S  P  Q  E  E  M  T  V  V  I  D  Q  L  E  V  C         p.540

          .         .         .         .         .         .       g.165508
 GACTCTCTTATTCCTTCCACTTCATCTATGACTCATGTCAGTGACACAGAACATAAGGAG       c.1680
 D  S  L  I  P  S  T  S  S  M  T  H  V  S  D  T  E  H  K  E         p.560

          .         .         .         .         .         .       g.165568
 TCAGAAACTGCAGTAGAGACCAGTACCCCCAAAATAAAAACAGGGTCATCTTCTCTAGAA       c.1740
 S  E  T  A  V  E  T  S  T  P  K  I  K  T  G  S  S  S  L  E         p.580

          .         .         .         .         .         .       g.165628
 GGCCAGTTTCCAAATGAAGGAATTGCTATAGATATGGAGCTACAGAGTGACCCTGAAGAA       c.1800
 G  Q  F  P  N  E  G  I  A  I  D  M  E  L  Q  S  D  P  E  E         p.600

          .         .         .         .         .         .       g.165688
 CAGCTTTCAGAAAATGCCTGCATCTCTGAAACGTCCTTTTCTTCTGAGAGCCCAGAGGGA       c.1860
 Q  L  S  E  N  A  C  I  S  E  T  S  F  S  S  E  S  P  E  G         p.620

          .         .         .         .         .         .       g.165748
 GCCTGTACCAGCCTGCCTTCTCCAGGAGGGGAAACACAGTCCACATCAGAAGAATCATGT       c.1920
 A  C  T  S  L  P  S  P  G  G  E  T  Q  S  T  S  E  E  S  C         p.640

          .         .         .         .         .         .       g.165808
 ACTCCAGCCTCCCTTGAGACAACATTTTGTTCTGAGGTATCTAGCACTGAAAATACAGAC       c.1980
 T  P  A  S  L  E  T  T  F  C  S  E  V  S  S  T  E  N  T  D         p.660

          .         .         .         .         .         .       g.165868
 AAATACAACCAGAGAAATTCCACTGATGAAAACTTTCATGCATCTTTGATGTCAGAAATA       c.2040
 K  Y  N  Q  R  N  S  T  D  E  N  F  H  A  S  L  M  S  E  I         p.680

          .         .         .         .         .         .       g.165928
 TCTCCAATATCCACTTCACCTGAAATATCAGAAGCATCTCTTATGTCCAACTTACCATTA       c.2100
 S  P  I  S  T  S  P  E  I  S  E  A  S  L  M  S  N  L  P  L         p.700

          .         .         .         .         .         .       g.165988
 ACATCTGAAGCATCACCAGTATCCAACTTACCTTTAACATCAGAAACCTCACCGATGTCT       c.2160
 T  S  E  A  S  P  V  S  N  L  P  L  T  S  E  T  S  P  M  S         p.720

          .         .         .         .         .         .       g.166048
 GACTTACCTTTAACATCAGAAACTTCTTCAGTGTCTTCCATGCTTCTCACCTCTGAGACC       c.2220
 D  L  P  L  T  S  E  T  S  S  V  S  S  M  L  L  T  S  E  T         p.740

          .         .         .         .         .         .       g.166108
 ACTTTTGTATCCAGTTTGCCACTTCCTTCAGAAACATCTCCAATTTCCAACTCTTCCATA       c.2280
 T  F  V  S  S  L  P  L  P  S  E  T  S  P  I  S  N  S  S  I         p.760

          .         .         .         .         .         .       g.166168
 AATGAGAGAATGGCACATCAGCAAAGAAAGTCACCTTCTGTATCTGAAGAGCCACTCTCC       c.2340
 N  E  R  M  A  H  Q  Q  R  K  S  P  S  V  S  E  E  P  L  S         p.780

          .         .         .         .         .         .       g.166228
 CCGCAGAAAGATGAGTCTTCCGCCACTGCCAAACCTCTGGGAGAGAACCTTACCTCCCAG       c.2400
 P  Q  K  D  E  S  S  A  T  A  K  P  L  G  E  N  L  T  S  Q         p.800

          .         .         .         .         .         .       g.166288
 CAGAAGAATCTGTCTAATACTCCCGAACCCATCATAATGAGTTCTTCTTCCATTGCTCCT       c.2460
 Q  K  N  L  S  N  T  P  E  P  I  I  M  S  S  S  S  I  A  P         p.820

          .         .         .         .         .         .       g.166348
 GAAGCATTTCCGTCTGAAGATTTGCACAATAAGACCCTGAGTCAGCAAACCTGTAAATCA       c.2520
 E  A  F  P  S  E  D  L  H  N  K  T  L  S  Q  Q  T  C  K  S         p.840

          .         .         .         .         .         .       g.166408
 CATGTTGACACTGAGAAGCCCTACCCTGCTTCAATTCCAGAACTTGCTTCTACTGAAATG       c.2580
 H  V  D  T  E  K  P  Y  P  A  S  I  P  E  L  A  S  T  E  M         p.860

          .         .         .         .         .         .       g.166468
 ATAAAAGTTAAAAATCATAGCGTCCTGCAAAGAACAGAAAAAAAAGTGTTACCTTCACCA       c.2640
 I  K  V  K  N  H  S  V  L  Q  R  T  E  K  K  V  L  P  S  P         p.880

          .         .         .         .         .         .       g.166528
 TTGGAATTATCTGTCTTTTCTGAAGGGACAGATAATAAGGGAAATGAGCTTCCATCTGCT       c.2700
 L  E  L  S  V  F  S  E  G  T  D  N  K  G  N  E  L  P  S  A         p.900

          .         .         .         .         .         .       g.166588
 AAATTACAGGACAAGCAATATATCTCATCAGTGGATAAGGCTCCATTTTCAGAAGGCTCT       c.2760
 K  L  Q  D  K  Q  Y  I  S  S  V  D  K  A  P  F  S  E  G  S         p.920

          .         .         .         .         .         .       g.166648
 AGAAATAAAACACATAAGCAAGGGAGTACACAGAGTCGGTTAGAAACCTCACATACTTCC       c.2820
 R  N  K  T  H  K  Q  G  S  T  Q  S  R  L  E  T  S  H  T  S         p.940

          .         .         .         .         .         .       g.166708
 AAGTCATCAGAGCCCTCCAAGTCACCTGATGGGATAAGAAATGAAAGTAGAGATTCAGAG       c.2880
 K  S  S  E  P  S  K  S  P  D  G  I  R  N  E  S  R  D  S  E         p.960

          .         .         .         .         .         .       g.166768
 ATATCAAAGAGAAAAACTGCAGAGCAACACAGCTTTGGAATCTGTAAGGAAAAGAGAGCT       c.2940
 I  S  K  R  K  T  A  E  Q  H  S  F  G  I  C  K  E  K  R  A         p.980

          .         .         .         .         .         .       g.166828
 AGGATAGAAGATGATCAGTCAACCCGGAACATATCATCTAGCAGCCCACCTGAGAAAGAA       c.3000
 R  I  E  D  D  Q  S  T  R  N  I  S  S  S  S  P  P  E  K  E         p.1000

          .         .         .          | 12        .         .    g.169332
 CAGCCTCCCAGAGAGGAACCAAGGGTTCCCCCTCTCAAG | ATTCAGCTTTCCAAAATTGGG    c.3060
 Q  P  P  R  E  E  P  R  V  P  P  L  K   | I  Q  L  S  K  I  G      p.1020

          .         .         .         .         .         .       g.169392
 CCACCTTTTATAATCAAGAGCCAACCAGTCTCCAAACCTGAGTCTCGAGCATCCACTAGC       c.3120
 P  P  F  I  I  K  S  Q  P  V  S  K  P  E  S  R  A  S  T  S         p.1040

          .         .         .         .         .         .       g.169452
 ACATCTGTCAGTGGCGGGAGGAACACAGGAGCCAGGACCCTCGCAGATATCAAGGCCCGG       c.3180
 T  S  V  S  G  G  R  N  T  G  A  R  T  L  A  D  I  K  A  R         p.1060

          .         .         .         .         .         .       g.169512
 GCCCAACAAGCTCGGGCCCAGCGAGAGGCTGCTGCAGCTGCTGCTGTGGCTGCTGCAGCG       c.3240
 A  Q  Q  A  R  A  Q  R  E  A  A  A  A  A  A  V  A  A  A  A         p.1080

          .         .         .         .         .         .       g.169572
 AGCATTGTCTCTGGAGCCATGGGAAGTCCAGGAGAGGGTGGAAAGACGAGAACTCTGGCA       c.3300
 S  I  V  S  G  A  M  G  S  P  G  E  G  G  K  T  R  T  L  A         p.1100

          .         .         .         .         .         .       g.169632
 CACATCAAAGAGCAGACAAAGGCTAAGCTCTTTGCAAAGCATCAAGCTCGAGCCCATCTC       c.3360
 H  I  K  E  Q  T  K  A  K  L  F  A  K  H  Q  A  R  A  H  L         p.1120

          .         .         .         .         .         .       g.169692
 TTCCAGACCTCTAAAGAGACCCGGTTGCCTCCTCCGCTCAGCTCAAAGGAAGGGCCTCCA       c.3420
 F  Q  T  S  K  E  T  R  L  P  P  P  L  S  S  K  E  G  P  P         p.1140

          .         .         .         .         .         .       g.169752
 AACTTAGAAGTCTCTTCTACCCCTGAAACAAAAATGGAAGGTTCGACTGGTGTCATTATT       c.3480
 N  L  E  V  S  S  T  P  E  T  K  M  E  G  S  T  G  V  I  I         p.1160

          .         .         .         .         .         .       g.169812
 GTCAATCCAAACTGTAGATCTCCTAGCAACAAGTCTGCCCACCTCCGGGAGACCACCACT       c.3540
 V  N  P  N  C  R  S  P  S  N  K  S  A  H  L  R  E  T  T  T         p.1180

          .         .         .         .         .         .       g.169872
 GTACTACAGCAGTCTCTTAACCCAAGTAAACTTCCAGAAACTGCCACTGACTTATCTGTG       c.3600
 V  L  Q  Q  S  L  N  P  S  K  L  P  E  T  A  T  D  L  S  V         p.1200

          .         .         .         .         .         .       g.169932
 CATAGTTCTGATGAAAACATACCTGTGTCACATTTATCTGAGAAAATTGTTTCATCTACC       c.3660
 H  S  S  D  E  N  I  P  V  S  H  L  S  E  K  I  V  S  S  T         p.1220

          .         .         .         .         .         .       g.169992
 TCTTCTGAAAATAGCAGTGTGCCCATGCTTTTTAATAAAAATTCTGTCCCTGTATCTGTT       c.3720
 S  S  E  N  S  S  V  P  M  L  F  N  K  N  S  V  P  V  S  V         p.1240

          .         .         .         .         .         .       g.170052
 TGCAGCACTGCTATATCGGGAGCAATTAAAGAACATCCCTTTGTGAGTTCTGTTGATAAA       c.3780
 C  S  T  A  I  S  G  A  I  K  E  H  P  F  V  S  S  V  D  K         p.1260

          .         .         .         .         .         .       g.170112
 TCCTCTGTCCTAATGTCTGTTGACAGTGCAAACACTACAATTTCTGCTTGTAATATAAGC       c.3840
 S  S  V  L  M  S  V  D  S  A  N  T  T  I  S  A  C  N  I  S         p.1280

          .         .         .         .         .         .       g.170172
 ATGTTAAAAACCATCCAGGGAACTGACACTCCATGCATAGCCATTATACCAAAATGTATT       c.3900
 M  L  K  T  I  Q  G  T  D  T  P  C  I  A  I  I  P  K  C  I         p.1300

          .         .         .         .         .         .       g.170232
 GAAAGCACTCCCATTTCAGCCACTACAGAGGGCTCCAGCATATCAAGCTCCATGGATGAT       c.3960
 E  S  T  P  I  S  A  T  T  E  G  S  S  I  S  S  S  M  D  D         p.1320

          .         .         .         .         .         .       g.170292
 AAGCAGTTACTAATATCAAGCAGCAGTGCTAGTAACTTAGTCTCCACTCAGTACACCTCT       c.4020
 K  Q  L  L  I  S  S  S  S  A  S  N  L  V  S  T  Q  Y  T  S         p.1340

          .         .         .         .         .         .       g.170352
 GTGCCAACTCCCTCCATCGGAAACAATTTGCCAAACCTCTCCACTAGCTCTGTCTTGATT       c.4080
 V  P  T  P  S  I  G  N  N  L  P  N  L  S  T  S  S  V  L  I         p.1360

          .         .         .         .         .         .       g.170412
 CCCCCAATGGGAATTAACAACAGATTTCCTTCTGAGAAGATAGCCATACCTGGGAGTGAA       c.4140
 P  P  M  G  I  N  N  R  F  P  S  E  K  I  A  I  P  G  S  E         p.1380

          .         .         .         .         .         .       g.170472
 GAACAGGCCACTGTATCCATGGGTACCACTGTGAGAGCAGCCCTCAGCTGCAGTGATTCT       c.4200
 E  Q  A  T  V  S  M  G  T  T  V  R  A  A  L  S  C  S  D  S         p.1400

          .         .         .         .         .         .       g.170532
 GTAGCGGTCACAGACTCTCTGGTTGCACACCCGACCGTCGCAATGTTTACTGGAAACATG       c.4260
 V  A  V  T  D  S  L  V  A  H  P  T  V  A  M  F  T  G  N  M         p.1420

          .         .         .         .         .         .       g.170592
 CTGACAATAAACTCTTATGATAGTCCTCCCAAGTTAAGTGCTGAAAGCTTGGACAAAAAT       c.4320
 L  T  I  N  S  Y  D  S  P  P  K  L  S  A  E  S  L  D  K  N         p.1440

          .         .         .         .         .         .       g.170652
 TCAGGGCCTCGAAACAGGGCAGATAATTCTGGAAAACCTCAGCAACCACCAGGGGGCTTT       c.4380
 S  G  P  R  N  R  A  D  N  S  G  K  P  Q  Q  P  P  G  G  F         p.1460

          .         .         .         .         .         .       g.170712
 GCACCAGCAGCCATAAACCGATCAATTCCGTGTAAAGTCATCGTTGACCACAGCACCACG       c.4440
 A  P  A  A  I  N  R  S  I  P  C  K  V  I  V  D  H  S  T  T         p.1480

          .         .         .         .         .         .       g.170772
 CTGACCTCCAGTTTGTCTCTGACTGTCTCCGTTGAAAGCTCAGAAGCCAGCTTGGACCTG       c.4500
 L  T  S  S  L  S  L  T  V  S  V  E  S  S  E  A  S  L  D  L         p.1500

          .         .         .         .         .         .       g.170832
 CAGGGCAGACCAGTGAGGACAGAGGCATCCGTACAGCCCGTGGCGTGTCCTCAGGTGTCT       c.4560
 Q  G  R  P  V  R  T  E  A  S  V  Q  P  V  A  C  P  Q  V  S         p.1520

          .         .         .         .         .         .       g.170892
 GTGATTAGCAGGCCTGAGCCAGTTGCCAACGAAGGTATAGATCACAGTTCCACTTTCATT       c.4620
 V  I  S  R  P  E  P  V  A  N  E  G  I  D  H  S  S  T  F  I         p.1540

          .         .         .         .         .         .       g.170952
 GCTGCTTCGGCAGCAAAACAAGACAGTAAAACATTGCCGGCCACCTGCACAAGTCTCCGA       c.4680
 A  A  S  A  A  K  Q  D  S  K  T  L  P  A  T  C  T  S  L  R         p.1560

          .         .         .         .         .         .       g.171012
 GAATTACCCCTTGTTCCAGATAAATTAAATGAGCCGACTGCTCCCAGTCATAACTTTGCT       c.4740
 E  L  P  L  V  P  D  K  L  N  E  P  T  A  P  S  H  N  F  A         p.1580

          .         .         .         .         .         .       g.171072
 GAGCAGGCACGTGGCCCAGCTCCTTTCAAAAGTGAAGCAGACACAACCTGTAGCAATCAG       c.4800
 E  Q  A  R  G  P  A  P  F  K  S  E  A  D  T  T  C  S  N  Q         p.1600

          .         .         .         .         .         .       g.171132
 TATAACCCAAGTAACCGGATTTGCTGGAATGATGATGGGATGAGGAGCACAGGACAGCCT       c.4860
 Y  N  P  S  N  R  I  C  W  N  D  D  G  M  R  S  T  G  Q  P         p.1620

          .         .         .         .         .         .       g.171192
 CTGGTTACTCACTCGGGTTCAAGTAAACAAAAAGAATATCTAGAGCAAAGCTGTCCAAAG       c.4920
 L  V  T  H  S  G  S  S  K  Q  K  E  Y  L  E  Q  S  C  P  K         p.1640

          .         .         .         .         .         .       g.171252
 GCTATCAAAACTGAACATGCCAACTACTTGAACGTGTCAGAACTTCATCCCAGGAATCTT       c.4980
 A  I  K  T  E  H  A  N  Y  L  N  V  S  E  L  H  P  R  N  L         p.1660

          .         .         .         .         .         .       g.171312
 GTAACAAATGTTGCTCTTCCTGTGAAATCTGAACTTCACGAAGCAGACAAGGGCTTTAGA       c.5040
 V  T  N  V  A  L  P  V  K  S  E  L  H  E  A  D  K  G  F  R         p.1680

          .         .         .         .         .         .       g.171372
 ATGGACACTGAAGACTTCCCTGGCCCTGAGCTGCCTCCTCCGGCTGCAGAGGGAGCCTCT       c.5100
 M  D  T  E  D  F  P  G  P  E  L  P  P  P  A  A  E  G  A  S         p.1700

          .         .         .         .         .         .       g.171432
 AGTGTACAACAAACACAGAACATGAAAGCTTCCACCTCAAGTCCCATGGAAGAGGCTATT       c.5160
 S  V  Q  Q  T  Q  N  M  K  A  S  T  S  S  P  M  E  E  A  I         p.1720

          .         .         .         .         .         .       g.171492
 TCCTTGGCTACCGATGCCCTGAAGAGAGTCCCTGGTGCAGGGAGCTCAGGCTGTCGTCTG       c.5220
 S  L  A  T  D  A  L  K  R  V  P  G  A  G  S  S  G  C  R  L         p.1740

          .         .         .         .         .         .       g.171552
 TCCTCTGTGGAGGCTAACAATCCGCTGGTGACGCAGTTACTACAGGGCAACCTGCCTTTG       c.5280
 S  S  V  E  A  N  N  P  L  V  T  Q  L  L  Q  G  N  L  P  L         p.1760

          .         .         .         .         .         .       g.171612
 GAAAAAGTGTTGCCACAGCCCAGATTGGGAGCCAAGCTTGAAATCAACAGGCTTCCATTG       c.5340
 E  K  V  L  P  Q  P  R  L  G  A  K  L  E  I  N  R  L  P  L         p.1780

          .         .         .         .         .         .       g.171672
 CCTCTTCAAACTACCTCAGTGGGTAAAACAGCACCAGAGAGAAACGTTGAAATTCCGCCC       c.5400
 P  L  Q  T  T  S  V  G  K  T  A  P  E  R  N  V  E  I  P  P         p.1800

          .         .         .         .         .         .       g.171732
 AGCTCTCCAAATCCAGATGGTAAGGGCTACTTGGCAGGGACTCTGGCACCACTCCAAATG       c.5460
 S  S  P  N  P  D  G  K  G  Y  L  A  G  T  L  A  P  L  Q  M         p.1820

          .         .         .         .         .         .       g.171792
 AGAAAGCGAGAAAACCACCCCAAAAAGAGAGTAGCTAGGACTGTAGGAGAACACACTCAA       c.5520
 R  K  R  E  N  H  P  K  K  R  V  A  R  T  V  G  E  H  T  Q         p.1840

          .         .         .         .         .         .       g.171852
 GTTAAATGTGAACCAGGAAAATTGTTGGTGGAGCCAGATGTTAAAGGGGTGCCTTGTGTC       c.5580
 V  K  C  E  P  G  K  L  L  V  E  P  D  V  K  G  V  P  C  V         p.1860

          .         .         .         .         .         .       g.171912
 ATCAGTTCCGGCATCAGTCAGCTAGGACACAGCCAGCCATTTAAGCAAGAATGGCTAAAC       c.5640
 I  S  S  G  I  S  Q  L  G  H  S  Q  P  F  K  Q  E  W  L  N         p.1880

          .         .         .         .         .         .       g.171972
 AAGCACTCCATGCAGAACAGAATTGTTCACAGCCCTGAGGTCAAACAGCAAAAGCGGCTG       c.5700
 K  H  S  M  Q  N  R  I  V  H  S  P  E  V  K  Q  Q  K  R  L         p.1900

          .         .         .         .         .         .       g.172032
 CTCCCCTCGTGTAGCTTCCAGCAGAACCTATTTCATGTTGACAAGAATGGCGGCTTCCAC       c.5760
 L  P  S  C  S  F  Q  Q  N  L  F  H  V  D  K  N  G  G  F  H         p.1920

          .         .         .         .         .         .       g.172092
 ACTGACGCTGGTACCTCACACAGACAGCAGTTTTACCAAATGCCTGTGGCTGCCAGGGGC       c.5820
 T  D  A  G  T  S  H  R  Q  Q  F  Y  Q  M  P  V  A  A  R  G         p.1940

          .         .         .         .         .         .       g.172152
 CCCATTCCTACTGCAGCTCTGTTACAGGCCTCTTCCAAGACCCCAGTGGGGTGTAATGCA       c.5880
 P  I  P  T  A  A  L  L  Q  A  S  S  K  T  P  V  G  C  N  A         p.1960

          .         .         .         .         .         .       g.172212
 TTTGCCTTCAACAGGCATCTTGAACAGAAGGGATTGGGAGAGGTTAGTCTTTCCTCAGCA       c.5940
 F  A  F  N  R  H  L  E  Q  K  G  L  G  E  V  S  L  S  S  A         p.1980

          .         .         .         .         .         .       g.172272
 CCTCACCAGCTAAGGTTAGCCAACATGTTATCCCCCAATATGCCCATGAAAGAAGGTGAT       c.6000
 P  H  Q  L  R  L  A  N  M  L  S  P  N  M  P  M  K  E  G  D         p.2000

          .         .         .         .         .         .       g.172332
 GAGGTGGGAGGCACTGCACACACAATGCCAAACAAAGCACTAGTACATCCGCCGCCGCCA       c.6060
 E  V  G  G  T  A  H  T  M  P  N  K  A  L  V  H  P  P  P  P         p.2020

          .         .         .         .         .         .       g.172392
 CCGCCTCCCCCTCCCCCTCCACCCTTGGCTTTGCCCCCGCCTCCCCCCCCACCACCTCCG       c.6120
 P  P  P  P  P  P  P  P  L  A  L  P  P  P  P  P  P  P  P  P         p.2040

          .         .         .         .         .         .       g.172452
 CTACCTCCACCTCTCCCTAATGCAGAAGTCCCATCTGATCAAAAACAACCTCCAGTTACC       c.6180
 L  P  P  P  L  P  N  A  E  V  P  S  D  Q  K  Q  P  P  V  T         p.2060

          .         .         .         .         .         .       g.172512
 ATGGAAACCACTAAGAGACTTAGTTGGCCACAGTCCACGGGCATATGTAGCAATATAAAA       c.6240
 M  E  T  T  K  R  L  S  W  P  Q  S  T  G  I  C  S  N  I  K         p.2080

          .         .         .         .         .         .       g.172572
 TCGGAACCTCTTTCTTTTGAGGAAGGTTTAAGCAGCAGCTGTGAACTGGGCATGAAACAA       c.6300
 S  E  P  L  S  F  E  E  G  L  S  S  S  C  E  L  G  M  K  Q         p.2100

          .         .         .         .         .         .       g.172632
 GTTTCCTATGACCAGAATGAAATGAAAGAACAGTTAAAAGCATTCGCGCTAAAAAGTGCA       c.6360
 V  S  Y  D  Q  N  E  M  K  E  Q  L  K  A  F  A  L  K  S  A         p.2120

          .         .         .         .         .         .       g.172692
 GATTTCTCTTCCTATTTGCTTTCTGAGCCACAAAAGCCTTTTACCCAATTAGCTGCTCAG       c.6420
 D  F  S  S  Y  L  L  S  E  P  Q  K  P  F  T  Q  L  A  A  Q         p.2140

          .         .         .         .         .         .       g.172752
 AAAATGCAGGTGCAGCAACAACAGCAGCTCTGTGGAAATTATCCAACAATACACTTTGGT       c.6480
 K  M  Q  V  Q  Q  Q  Q  Q  L  C  G  N  Y  P  T  I  H  F  G         p.2160

          .         .         .         .         .         .       g.172812
 AGCACGAGTTTCAAAAGGGCAGCATCTGCAATTGAAAAGTCCATTGGGATTTTGGGAAGT       c.6540
 S  T  S  F  K  R  A  A  S  A  I  E  K  S  I  G  I  L  G  S         p.2180

          .         .         .         .         .         .       g.172872
 GGCTCCAATCCTGCCACAGGCTTGTCTGGTCAGAACGCTCAGATGCCCGTTCAGAACTTT       c.6600
 G  S  N  P  A  T  G  L  S  G  Q  N  A  Q  M  P  V  Q  N  F         p.2200

          .         .         .         .         .         .       g.172932
 GCCGACAGCAGCAATGCAGATGAATTGGAACTGAAATGCTCTTGCCGGCTGAAAGCCATG       c.6660
 A  D  S  S  N  A  D  E  L  E  L  K  C  S  C  R  L  K  A  M         p.2220

          .         .         .         .         .         .       g.172992
 ATTGTGTGCAAAGGCTGTGGGGCCTTCTGCCATGACGACTGCATAGGTCCTTCAAAACTT       c.6720
 I  V  C  K  G  C  G  A  F  C  H  D  D  C  I  G  P  S  K  L         p.2240

          .         .                                               g.173019
 TGTGTAGCATGCCTGGTTGTACGATAA                                        c.6747
 C  V  A  C  L  V  V  R  X                                          p.2248

          .         .         .         .         .         .       g.173079
 gagctgagtgaaagatgcagtatcccttttccacacggaaaagccaaatagcatcagcaa       c.*60

          .         .         .         .         .         .       g.173139
 caacaaatagaataatgcagtggtttctatcatgctaatttattttgctttggagcaggt       c.*120

          .         .         .         .         .         .       g.173199
 acctttcctctatggcattattttcttgcatttctcataaaggggaggatgcatcccaac       c.*180

          .         .         .         .         .         .       g.173259
 tgaatggctcactggcatgtcttttatgtgttcagttgccattcctagctttggaaagtt       c.*240

          .         .         .         .         .         .       g.173319
 tctatctgtccatgtgtatacaagtcaatgccccatttttgtttttcttttaaccgaggt       c.*300

          .         .         .         .         .         .       g.173379
 gtagataggaaaaggacatttttaattacttaataaccggaaatgcagatgtgtaaggag       c.*360

          .         .         .         .         .         .       g.173439
 aatgagaggaatgagttaaagtggttatgcatttttctatagatgagccattacagcaag       c.*420

          .         .         .         .         .         .       g.173499
 gaattttacagttgacttctctgaacctagctttaccacagtgattaaatcctatttaga       c.*480

          .         .         .         .         .         .       g.173559
 aaggggaatctgatttaaatgtgtgattccttgtatttgctcctatcacaaaagatatat       c.*540

          .         .         .         .         .         .       g.173619
 taaaggaggtatgccattaatgaaatccactgtcctgagtattatctttcctcctgttgt       c.*600

          .         .         .         .         .         .       g.173679
 actttctcagagactatggcagaatatctggatcttccttggattttgtacacatattgt       c.*660

          .         .         .         .         .         .       g.173739
 agtgaaatgtgtcctacatctgaaattgcatgggactcatgcccagcaatctggttctag       c.*720

          .         .         .         .         .         .       g.173799
 gcctttgacacctgataatatgagagcaattggccagccaatagccataagcccagagga       c.*780

          .         .         .         .         .         .       g.173859
 ttttagagcttcatgtgtggcttttaagagcaggtttgaaaaaaaaaaaaaaaagaccct       c.*840

 

 (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 Additional sex combs like 3 (Drosophila) 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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