ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5) - coding DNA reference sequence

(used for variant description)

(last modified November 1, 2023)


This file was created to facilitate the description of sequence variants on transcript NM_172232.2 in the ABCA5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering ABCA5 transcript NM_172232.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5026
                                   agctctgcctgcgccaggagcgcgcg       c.-121

 .         .         .         .         .         .                g.5086
 ggtgcgcgcggccgcgccctcgcacagatcccagctgggtcacccgcactgagtcaacag       c.-61

 .         .         .         .         .     | 02   .             g.17767
 actgagcgcgtccaggcctgacagctctgcggctcgggccctgag | gtttattcagaaaac    c.-1

          .         .         .         .         .         .       g.17827
 ATGTCCACTGCAATTAGGGAGGTAGGAGTTTGGAGACAGACCAGAACACTTCTACTGAAG       c.60
 M  S  T  A  I  R  E  V  G  V  W  R  Q  T  R  T  L  L  L  K         p.20

          .         .         .         .   | 03     .         .    g.18904
 AATTACTTAATTAAATGCAGAACCAAAAAGAGTAGTGTTCAG | GAAATTCTTTTTCCACTA    c.120
 N  Y  L  I  K  C  R  T  K  K  S  S  V  Q   | E  I  L  F  P  L      p.40

          .         .         .         .         .         .       g.18964
 TTTTTTTTATTTTGGTTAATATTAATTAGCATGATGCATCCAAATAAGAAATATGAAGAA       c.180
 F  F  L  F  W  L  I  L  I  S  M  M  H  P  N  K  K  Y  E  E         p.60

          .         .         .         .         .         .       g.19024
 GTGCCTAATATAGAACTCAATCCTATGGACAAGTTTACTCTTTCTAATCTAATTCTTGGA       c.240
 V  P  N  I  E  L  N  P  M  D  K  F  T  L  S  N  L  I  L  G         p.80

          .         .         .         .         .         .       g.19084
 TATACTCCAGTGACTAATATTACAAGCAGCATCATGCAGAAAGTGTCTACTGATCATCTA       c.300
 Y  T  P  V  T  N  I  T  S  S  I  M  Q  K  V  S  T  D  H  L         p.100

         | 04.         .         .         .         .         .    g.22812
 CCTGATG | TCATAATTACTGAAGAATATACAAATGAAAAAGAAATGTTAACATCCAGTCTC    c.360
 P  D  V |   I  I  T  E  E  Y  T  N  E  K  E  M  L  T  S  S  L      p.120

          .         .         .         .         .         .       g.22872
 TCTAAGCCGAGCAACTTTGTAGGTGTGGTTTTCAAAGACTCCATGTCCTATGAACTTCGT       c.420
 S  K  P  S  N  F  V  G  V  V  F  K  D  S  M  S  Y  E  L  R         p.140

          .         .         .         .          | 05        .    g.23825
 TTTTTTCCTGATATGATTCCAGTATCTTCTATTTATATGGATTCAAGAG | CTGGCTGTTCA    c.480
 F  F  P  D  M  I  P  V  S  S  I  Y  M  D  S  R  A |   G  C  S      p.160

          .         .         .         .         .         .       g.23885
 AAATCATGTGAGGCTGCTCAGTACTGGTCCTCAGGTTTCACAGTTTTACAAGCATCCATA       c.540
 K  S  C  E  A  A  Q  Y  W  S  S  G  F  T  V  L  Q  A  S  I         p.180

          .         | 06         .         .         .         .    g.25270
 GATGCTGCCATTATACAG | TTGAAGACCAATGTTTCTCTTTGGAAGGAGCTGGAGTCAACT    c.600
 D  A  A  I  I  Q   | L  K  T  N  V  S  L  W  K  E  L  E  S  T      p.200

          .         .         .         .         .         .       g.25330
 AAAGCTGTTATTATGGGAGAAACTGCTGTTGTAGAAATAGATACCTTTCCCCGAGGAGTA       c.660
 K  A  V  I  M  G  E  T  A  V  V  E  I  D  T  F  P  R  G  V         p.220

          .         .         .         .         .         .       g.25390
 ATTTTAATATACCTAGTTATAGCATTTTCACCTTTTGGATACTTTTTGGCAATTCATATC       c.720
 I  L  I  Y  L  V  I  A  F  S  P  F  G  Y  F  L  A  I  H  I         p.240

          .         .         .         .         .         .       g.25450
 GTAGCAGAAAAAGAAAAAAAAATAAAAGAATTTTTAAAGATAATGGGACTTCATGATACT       c.780
 V  A  E  K  E  K  K  I  K  E  F  L  K  I  M  G  L  H  D  T         p.260

          | 07         .         .         .         .         .    g.27424
 GCCTTTTG | GCTTTCCTGGGTTCTTCTATATACAAGTTTAATTTTTCTTATGTCCCTTCTT    c.840
 A  F  W  |  L  S  W  V  L  L  Y  T  S  L  I  F  L  M  S  L  L      p.280

          .         .         .         .         .         .       g.27484
 ATGGCAGTCATTGCGACAGCTTCTTTGTTATTTCCTCAAAGTAGCAGCATTGTGATATTT       c.900
 M  A  V  I  A  T  A  S  L  L  F  P  Q  S  S  S  I  V  I  F         p.300

          .         .         . | 08       .         .         .    g.29306
 CTGCTTTTTTTCCTTTATGGATTATCATCT | GTATTTTTTGCTTTAATGCTGACACCTCTT    c.960
 L  L  F  F  L  Y  G  L  S  S   | V  F  F  A  L  M  L  T  P  L      p.320

          .         .         .         .         .         .       g.29366
 TTTAAAAAATCAAAACATGTGGGAATAGTTGAATTTTTTGTTACTGTGGCTTTTGGATTT       c.1020
 F  K  K  S  K  H  V  G  I  V  E  F  F  V  T  V  A  F  G  F         p.340

          .         .         .         .         .         .       g.29426
 ATTGGCCTTATGATAATCCTCATAGAAAGTTTTCCCAAATCGTTAGTGTGGCTTTTCAGT       c.1080
 I  G  L  M  I  I  L  I  E  S  F  P  K  S  L  V  W  L  F  S         p.360

          .         .         .          | 09        .         .    g.30917
 CCTTTCTGTCACTGTACTTTTGTGATTGGTATTGCACAG | GTCATGCATTTAGAAGATTTT    c.1140
 P  F  C  H  C  T  F  V  I  G  I  A  Q   | V  M  H  L  E  D  F      p.380

          .         .         .         .         .         .       g.30977
 AATGAAGGTGCTTCATTTTCAAATTTGACTGCAGGCCCATATCCTCTAATTATTACAATT       c.1200
 N  E  G  A  S  F  S  N  L  T  A  G  P  Y  P  L  I  I  T  I         p.400

          .         .         .         .         .         .       g.31037
 ATCATGCTCACACTTAATAGTATATTCTATGTCCTCTTGGCTGTCTATCTTGATCAAGTC       c.1260
 I  M  L  T  L  N  S  I  F  Y  V  L  L  A  V  Y  L  D  Q  V         p.420

         | 10.         .         .         .         .         .    g.34876
 ATTCCAG | GGGAATTTGGCTTACGGAGATCATCTTTATATTTTCTGAAGCCTTCATATTGG    c.1320
 I  P  G |   E  F  G  L  R  R  S  S  L  Y  F  L  K  P  S  Y  W      p.440

          .         .         .         .         .         .       g.34936
 TCAAAGAGCAAAAGAAATTATGAGGAGTTATCAGAGGGCAATGTTAATGGAAATATTAGT       c.1380
 S  K  S  K  R  N  Y  E  E  L  S  E  G  N  V  N  G  N  I  S         p.460

          .         .         .         .         .       | 11 .    g.37473
 TTTAGTGAAATTATTGAGCCAGTTTCTTCAGAATTTGTAGGAAAAGAAGCCATAAG | AATT    c.1440
 F  S  E  I  I  E  P  V  S  S  E  F  V  G  K  E  A  I  R  |  I      p.480

          .         .         .         .         .      | 12  .    g.40861
 AGTGGTATTCAGAAGACATACAGAAAGAAGGGTGAAAATGTGGAGGCTTTGAGAA | ATTTG    c.1500
 S  G  I  Q  K  T  Y  R  K  K  G  E  N  V  E  A  L  R  N |   L      p.500

          .         .         .         .         .         .       g.40921
 TCATTTGACATATATGAGGGTCAGATTACTGCCTTACTTGGCCACAGTGGAACAGGAAAG       c.1560
 S  F  D  I  Y  E  G  Q  I  T  A  L  L  G  H  S  G  T  G  K         p.520

          .         .         .         .       | 13 .         .    g.42159
 AGTACATTGATGAATATTCTTTGTGGACTCTGCCCACCTTCTGATG | GGTTTGCATCTATA    c.1620
 S  T  L  M  N  I  L  C  G  L  C  P  P  S  D  G |   F  A  S  I      p.540

          .         .         .         .         .         .       g.42219
 TATGGACACAGAGTCTCAGAAATAGATGAAATGTTTGAAGCAAGAAAAATGATTGGCATT       c.1680
 Y  G  H  R  V  S  E  I  D  E  M  F  E  A  R  K  M  I  G  I         p.560

          .         .         .         .         .         .       g.42279
 TGTCCACAGTTAGATATACACTTTGATGTTTTGACAGTAGAAGAAAATTTATCAATTTTG       c.1740
 C  P  Q  L  D  I  H  F  D  V  L  T  V  E  E  N  L  S  I  L         p.580

          .         .         .         .   | 14     .         .    g.42904
 GCTTCAATCAAAGGGATACCAGCCAACAATATAATACAAGAA | GTGCAGAAGGTTTTACTA    c.1800
 A  S  I  K  G  I  P  A  N  N  I  I  Q  E   | V  Q  K  V  L  L      p.600

          .         .         .         .         .         .       g.42964
 GATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAA       c.1860
 D  L  D  M  Q  T  I  K  D  N  Q  A  K  K  L  S  G  G  Q  K         p.620

          .         .         .         .   | 15     .         .    g.44449
 AGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAG | ATACTGCTGCTAGATGAA    c.1920
 R  K  L  S  L  G  I  A  V  L  G  N  P  K   | I  L  L  L  D  E      p.640

          .         .         .         .         .         .       g.44509
 CCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGA       c.1980
 P  T  A  G  M  D  P  C  S  R  H  I  V  W  N  L  L  K  Y  R         p.660

          .         .         .         .         .         .       g.44569
 AAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCA       c.2040
 K  A  N  R  V  T  V  F  S  T  H  F  M  D  E  A  D  I  L  A         p.680

   | 16      .         .         .         .         .         .    g.45930
 G | ATAGGAAAGCTGTGATATCACAAGGAATGCTGAAATGTGTTGGTTCTTCAATGTTCCTC    c.2100
 D |   R  K  A  V  I  S  Q  G  M  L  K  C  V  G  S  S  M  F  L      p.700

          .         .         .   | 17     .         .         .    g.46173
 AAAAGTAAATGGGGGATCGGCTACCGCCTGAG | CATGTACATAGACAAATATTGTGCCACA    c.2160
 K  S  K  W  G  I  G  Y  R  L  S  |  M  Y  I  D  K  Y  C  A  T      p.720

          .         .         .         .         .         .       g.46233
 GAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAAT       c.2220
 E  S  L  S  S  L  V  K  Q  H  I  P  G  A  T  L  L  Q  Q  N         p.740

          .         .         .         .         .   | 18     .    g.48118
 GACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAG | GTTTGTTT    c.2280
 D  Q  Q  L  V  Y  S  L  P  F  K  D  M  D  K  F  S  G |   L  F      p.760

          .         .         .         .         .         .       g.48178
 TCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACT       c.2340
 S  A  L  D  S  H  S  N  L  G  V  I  S  Y  G  V  S  M  T  T         p.780

          .         .         .         .         .   | 19     .    g.54348
 TTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAG | ATTATAGT    c.2400
 L  E  D  V  F  L  K  L  E  V  E  A  E  I  D  Q  A  D |   Y  S      p.800

          .         .         .         .         .         .       g.54408
 GTATTTACTCAGCAGCCACTGGAGGAAGAAATGGATTCAAAATCTTTTGATGAAATGGAA       c.2460
 V  F  T  Q  Q  P  L  E  E  E  M  D  S  K  S  F  D  E  M  E         p.820

          .         .         .         .         .         .       g.54468
 CAGAGCTTACTTATTCTTTCTGAAACCAAGGCTGCTCTAGTGAGCACCATGAGCCTTTGG       c.2520
 Q  S  L  L  I  L  S  E  T  K  A  A  L  V  S  T  M  S  L  W         p.840

          .         .         .         .         .         .       g.54528
 AAACAACAGATGTATACAATAGCAAAGTTTCATTTCTTTACCTTGAAACGTGAAAGTAAA       c.2580
 K  Q  Q  M  Y  T  I  A  K  F  H  F  F  T  L  K  R  E  S  K         p.860

          .     | 20   .         .         .         .         .    g.58100
 TCAGTGAGATCAGT | GTTGCTTCTGCTTTTAATTTTTTTCACAGTTCAGATTTTTATGTTT    c.2640
 S  V  R  S  V  |  L  L  L  L  L  I  F  F  T  V  Q  I  F  M  F      p.880

          .         .         .         .         .         .       g.58160
 TTGGTTCATCACTCTTTTAAAAATGCTGTGGTTCCCATCAAACTTGTTCCAGACTTATAT       c.2700
 L  V  H  H  S  F  K  N  A  V  V  P  I  K  L  V  P  D  L  Y         p.900

          .         .         .         .         .         .       g.58220
 TTTCTAAAACCTGGAGACAAACCACATAAATACAAAACAAGTCTGCTTCTTCAAAATTCT       c.2760
 F  L  K  P  G  D  K  P  H  K  Y  K  T  S  L  L  L  Q  N  S         p.920

      | 21   .         .         .         .         .         .    g.60949
 GCTG | ACTCAGATATCAGTGATCTTATTAGCTTTTTCACAAGCCAGAACATAATGGTGACG    c.2820
 A  D |   S  D  I  S  D  L  I  S  F  F  T  S  Q  N  I  M  V  T      p.940

          .         .         .         .         .         .       g.61009
 ATGATTAATGACAGTGACTATGTATCCGTGGCTCCCCATAGTGCGGCTTTAAATGTGATG       c.2880
 M  I  N  D  S  D  Y  V  S  V  A  P  H  S  A  A  L  N  V  M         p.960

          .   | 22     .         .         .         .         .    g.61480
 CATTCAGAAAAG | GACTATGTTTTTGCAGCTGTTTTCAACAGTACTATGGTTTATTCTTTA    c.2940
 H  S  E  K   | D  Y  V  F  A  A  V  F  N  S  T  M  V  Y  S  L      p.980

          .         .         .         .         .         .       g.61540
 CCTATATTAGTGAATATCATTAGTAACTACTATCTTTATCATTTAAATGTGACTGAAACC       c.3000
 P  I  L  V  N  I  I  S  N  Y  Y  L  Y  H  L  N  V  T  E  T         p.1000

          .         .         . | 23       .         .         .    g.64156
 ATCCAGATCTGGAGTACCCCATTCTTTCAA | GAAATTACTGATATAGTTTTTAAAATTGAG    c.3060
 I  Q  I  W  S  T  P  F  F  Q   | E  I  T  D  I  V  F  K  I  E      p.1020

          .         .         .         .         .         .       g.64216
 CTGTATTTTCAAGCAGCTTTGCTTGGAATCATTGTTACTGCAATGCCACCTTACTTTGCC       c.3120
 L  Y  F  Q  A  A  L  L  G  I  I  V  T  A  M  P  P  Y  F  A         p.1040

          .         .     | 24   .         .         .         .    g.67313
 ATGGAAAATGCAGAGAATCATAAG | ATCAAAGCTTATACTCAACTTAAACTTTCAGGTCTT    c.3180
 M  E  N  A  E  N  H  K   | I  K  A  Y  T  Q  L  K  L  S  G  L      p.1060

          .         .         .         .         .         .       g.67373
 TTGCCATCTGCATATTGGATTGGACAAGCTGTTGTTGATATCCCCTTATTTTTTATCATT       c.3240
 L  P  S  A  Y  W  I  G  Q  A  V  V  D  I  P  L  F  F  I  I         p.1080

          .         .         .         .         .         .       g.67433
 CTTATTTTGATGCTAGGAAGCTTATTGGCATTTCATTATGGATTATATTTTTATACTGTA       c.3300
 L  I  L  M  L  G  S  L  L  A  F  H  Y  G  L  Y  F  Y  T  V         p.1100

          .      | 25  .         .         .         .         .    g.70479
 AAGTTCCTTGCTGTG | GTTTTTTGCCTTATTGGTTATGTTCCATCAGTTATTCTGTTCACT    c.3360
 K  F  L  A  V   | V  F  C  L  I  G  Y  V  P  S  V  I  L  F  T      p.1120

          .         .         .         .         .         .       g.70539
 TATATTGCTTCTTTCACCTTTAAGAAAATTTTAAATACCAAAGAATTTTGGTCATTTATC       c.3420
 Y  I  A  S  F  T  F  K  K  I  L  N  T  K  E  F  W  S  F  I         p.1140

           | 26        .         .         .         .         .    g.70974
 TATTCTGTG | GCAGCGTTGGCTTGTATTGCAATCACTGAAATAACTTTCTTTATGGGATAC    c.3480
 Y  S  V   | A  A  L  A  C  I  A  I  T  E  I  T  F  F  M  G  Y      p.1160

          .         .         .         .         .         .       g.71034
 ACAATTGCAACTATTCTTCATTATGCCTTTTGTATCATCATTCCAATCTATCCACTTCTA       c.3540
 T  I  A  T  I  L  H  Y  A  F  C  I  I  I  P  I  Y  P  L  L         p.1180

          .         .     | 27   .         .         .         .    g.71806
 GGTTGCCTGATTTCTTTCATAAAG | ATTTCTTGGAAGAATGTACGAAAAAATGTGGACACC    c.3600
 G  C  L  I  S  F  I  K   | I  S  W  K  N  V  R  K  N  V  D  T      p.1200

          .         .         .          | 28        .         .    g.72406
 TATAATCCATGGGATAGGCTTTCAGTAGCTGTTATATCG | CCTTACCTGCAGTGTGTACTG    c.3660
 Y  N  P  W  D  R  L  S  V  A  V  I  S   | P  Y  L  Q  C  V  L      p.1220

          .         .         .         .         .         .       g.72466
 TGGATTTTCCTCTTACAATACTATGAGAAAAAATATGGAGGCAGATCAATAAGAAAAGAT       c.3720
 W  I  F  L  L  Q  Y  Y  E  K  K  Y  G  G  R  S  I  R  K  D         p.1240

          .  | 29      .         .         .         .         .    g.75948
 CCCTTTTTCAG | AAACCTTTCAACGAAGTCTAAAAATAGGAAGCTTCCAGAACCACCAGAC    c.3780
 P  F  F  R  |  N  L  S  T  K  S  K  N  R  K  L  P  E  P  P  D      p.1260

          .         .         .         .         .         .       g.76008
 AATGAGGATGAAGATGAAGATGTCAAAGCTGAAAGACTAAAGGTCAAAGAGCTGATGGGT       c.3840
 N  E  D  E  D  E  D  V  K  A  E  R  L  K  V  K  E  L  M  G         p.1280

          .         | 30         .         .         .         .    g.76374
 TGCCAGTGTTGTGAGGAG | AAACCATCCATTATGGTCAGCAATTTGCATAAAGAATATGAT    c.3900
 C  Q  C  C  E  E   | K  P  S  I  M  V  S  N  L  H  K  E  Y  D      p.1300

          .         .         .         .         .         .       g.76434
 GACAAGAAAGATTTTCTTCTTTCAAGAAAAGTAAAGAAAGTGGCAACTAAATACATCTCT       c.3960
 D  K  K  D  F  L  L  S  R  K  V  K  K  V  A  T  K  Y  I  S         p.1320

          .       | 31 .         .         .         .         .    g.76592
 TTCTGTGTGAAAAAAG | GAGAGATCTTAGGACTATTGGGTCCAAATGGTGCTGGCAAAAGC    c.4020
 F  C  V  K  K  G |   E  I  L  G  L  L  G  P  N  G  A  G  K  S      p.1340

          .         .         .         .         | 32         .    g.77704
 ACAATTATTAATATTCTGGTTGGTGATATTGAACCAACTTCAGGCCAG | GTATTTTTAGGA    c.4080
 T  I  I  N  I  L  V  G  D  I  E  P  T  S  G  Q   | V  F  L  G      p.1360

          .         .         .         .         .         .       g.77764
 GATTATTCTTCAGAGACAAGTGAAGATGATGATTCACTGAAGTGTATGGGTTACTGTCCT       c.4140
 D  Y  S  S  E  T  S  E  D  D  D  S  L  K  C  M  G  Y  C  P         p.1380

          .         .         .         .         .         .       g.77824
 CAGATAAACCCTTTGTGGCCAGATACTACATTGCAGGAACATTTTGAAATTTATGGAGCT       c.4200
 Q  I  N  P  L  W  P  D  T  T  L  Q  E  H  F  E  I  Y  G  A         p.1400

          .         .         .         .     | 33   .         .    g.78329
 GTCAAAGGAATGAGTGCAAGTGACATGAAAGAAGTCATAAGTCG | AATAACACATGCACTT    c.4260
 V  K  G  M  S  A  S  D  M  K  E  V  I  S  R  |  I  T  H  A  L      p.1420

          .         .         .         .         .         .       g.78389
 GATTTAAAAGAACATCTTCAGAAGACTGTAAAGAAACTACCTGCAGGAATCAAACGAAAG       c.4320
 D  L  K  E  H  L  Q  K  T  V  K  K  L  P  A  G  I  K  R  K         p.1440

  | 34       .         .         .         .         .         .    g.78575
  | TTGTGTTTTGCTCTAAGTATGCTAGGGAATCCTCAGATTACTTTGCTAGATGAACCATCT    c.4380
  | L  C  F  A  L  S  M  L  G  N  P  Q  I  T  L  L  D  E  P  S      p.1460

          .         .         .      | 35  .         .         .    g.80341
 ACAGGTATGGATCCCAAAGCCAAACAGCACATGTG | GCGAGCAATTCGAACTGCATTTAAA    c.4440
 T  G  M  D  P  K  A  K  Q  H  M  W  |  R  A  I  R  T  A  F  K      p.1480

          .         .         .         .         .         .       g.80401
 AACAGAAAGCGGGCTGCTATTCTGACCACTCACTATATGGAGGAGGCAGAGGCTGTCTGT       c.4500
 N  R  K  R  A  A  I  L  T  T  H  Y  M  E  E  A  E  A  V  C         p.1500

          .         .         .      | 36  .         .         .    g.81586
 GATCGAGTAGCTATCATGGTGTCTGGGCAGTTAAG | ATGTATCGGAACAGTACAACATCTA    c.4560
 D  R  V  A  I  M  V  S  G  Q  L  R  |  C  I  G  T  V  Q  H  L      p.1520

          .         .         .         .         .         .       g.81646
 AAGAGTAAATTTGGAAAAGGCTACTTTTTGGAAATTAAATTGAAGGACTGGATAGAAAAC       c.4620
 K  S  K  F  G  K  G  Y  F  L  E  I  K  L  K  D  W  I  E  N         p.1540

          .         .         .         .         .         .       g.81706
 CTAGAAGTAGACCGCCTTCAAAGAGAAATTCAGTATATTTTCCCAAATGCAAGCCGTCAG       c.4680
 L  E  V  D  R  L  Q  R  E  I  Q  Y  I  F  P  N  A  S  R  Q         p.1560

       | 37  .         .         .         .         .         .    g.82253
 GAAAG | TTTTTCTTCTATTTTGGCTTATAAAATTCCTAAGGAAGATGTTCAGTCCCTTTCA    c.4740
 E  S  |  F  S  S  I  L  A  Y  K  I  P  K  E  D  V  Q  S  L  S      p.1580

          .         .      | 38  .         .         .         .    g.83900
 CAATCTTTTTTTAAGCTGGAAGAAG | CTAAACATGCTTTTGCCATTGAAGAATATAGCTTT    c.4800
 Q  S  F  F  K  L  E  E  A |   K  H  A  F  A  I  E  E  Y  S  F      p.1600

          .         .  | 39      .         .         .         .    g.84577
 TCTCAAGCAACATTGGAACAG | GTTTTTGTAGAACTCACTAAAGAACAAGAGGAGGAAGAT    c.4860
 S  Q  A  T  L  E  Q   | V  F  V  E  L  T  K  E  Q  E  E  E  D      p.1620

          .         .         .         .         .         .       g.84637
 AATAGTTGTGGAACTTTAAACAGCACACTTTGGTGGGAACGAACACAAGAAGATAGAGTA       c.4920
 N  S  C  G  T  L  N  S  T  L  W  W  E  R  T  Q  E  D  R  V         p.1640

                                                                    g.84646
 GTATTTTGA                                                          c.4929
 V  F  X                                                            p.1642

          .         .         .         .         .         .       g.84706
 atttgtattgttcggtctgcttactgggacttctttctttttcacttaattttaactttg       c.*60

          .         .         .         .         .         .       g.84766
 gtttaaaaagttttttattggaatggtaactggagaaccaagaacgcacttgaaattttt       c.*120

          .         .         .         .         .         .       g.84826
 ctaagctccttaattgaaatgctgtggttgtgtgttttgcttttctttaaataaaacgta       c.*180

          .         .         .         .         .         .       g.84886
 tgtataattaagtgaagctgcatgtttgtattgaagtatattgaactatatagtttgtat       c.*240

          .         .         .         .         .         .       g.84946
 gtcatctttttcaccattcagaaacagtgcttctgaatttgtgatttaaaggaattgtaa       c.*300

          .         .         .         .         .         .       g.85006
 tagaatagttttatttttaagttatctttaagtttatgccatcttcttaaataagtacgt       c.*360

          .         .         .         .         .         .       g.85066
 aatgttccaatctaaataaaaaactaattcataactaatgcatagaaaagatacataaag       c.*420

          .         .         .         .         .         .       g.85126
 caatgtgaaagtttcttgcttctcctttttaatttctaaaaaagccactttgaatggaag       c.*480

          .         .         .         .         .         .       g.85186
 ttgtcatccgtaaaagctgaagtgtaagcactaggaaatctcaatatagagatttgagga       c.*540

          .         .         .         .         .         .       g.85246
 aagttatatccactaggtggcagtcattgatcataataagtgaaatgagcccttgttcta       c.*600

          .         .         .         .         .         .       g.85306
 gtacatgattttaggcttaggtaattaggtatgtgaaattacatttctttaatttaaagt       c.*660

          .         .         .         .         .         .       g.85366
 aaaattcagaaggttttagttattataattaaaggaagactgtgtgtagaatcttacgta       c.*720

          .         .         .         .         .         .       g.85426
 atagtctgattctttgactctgtggctagaatgacagttatctatggaggtggtagaatt       c.*780

          .         .         .         .         .         .       g.85486
 aagccataccttttccttcatcactcttggaacatataaattttttgtcatcttccttgc       c.*840

          .         .         .         .         .         .       g.85546
 aaagggcacatttaattttgttcttgaataaaatattttattgggtatttgtttttattg       c.*900

          .         .         .         .         .         .       g.85606
 gtaaactttagtgaatctcttctataaaattgtaagtagatcagtgtgtagatttattta       c.*960

          .         .         .         .         .         .       g.85666
 gtaacttacctcattgactttggaacatggtaggatatgaataaactctttcaagggtta       c.*1020

          .         .         .         .         .         .       g.85726
 aattaagaattgtaagtgcagtgcgcctatttctttttaataagaaccagaatttcattt       c.*1080

          .         .         .         .         .         .       g.85786
 ttgatagagttaaaggcatggctaatattttcttagaaatacttccttgtacaacccatg       c.*1140

          .         .         .         .         .         .       g.85846
 tattggctcaaggtataaaatagtgtaaataatgctagttgacattacatttcaaccaaa       c.*1200

          .         .         .         .         .         .       g.85906
 tgaaagtattaacttcataaaacaaatatattgagagtgtgattattgtattagacaaca       c.*1260

          .         .         .         .         .         .       g.85966
 acaacagcaatgacagaaggatttggtactgaattactttaaataagcaaaacctttcag       c.*1320

          .         .         .         .         .         .       g.86026
 tggcattattcattctttaatgtaggcaaaatttaatgaacttttagctttattgtgtaa       c.*1380

          .         .         .         .         .         .       g.86086
 taagacatctgtgattttaggctctagcagtggatttaaaagtgttctttctcggtacaa       c.*1440

          .         .         .         .         .         .       g.86146
 agtacgtggctgatattttcccccattgctgggggcagttgctatacactttcctaaagt       c.*1500

          .         .         .         .         .         .       g.86206
 atatataatgttcacataaatacccagggacctcttttttgggatgtgcttttgtaatta       c.*1560

          .         .         .         .         .         .       g.86266
 tgtgtaaccttgaatacttaagtttagtaaaagcaacaaaattatatctatagtttacta       c.*1620

          .         .         .         .         .         .       g.86326
 aggcagtcacgaaaaagcatagttttttttagaacctgaccatcctaagaaagttatgtc       c.*1680

          .         .         .         .         .         .       g.86386
 atctgaagatagagcatgactaatgaagaaaattacctgcttttgcacgtagatttggta       c.*1740

          .         .         .         .         .         .       g.86446
 actttcactttacatttgtgaatgtgtaattggtgcaaagtaaattttttttcctgcaaa       c.*1800

          .         .         .         .         .         .       g.86506
 gtgaaagttgagtagtcacaatcatgttatttattttgttcatttagttactttgctttt       c.*1860

          .         .         .         .         .         .       g.86566
 aatgtatatgaatacatgctcttgtaaacaattttaaaagacattcaaatttttttttag       c.*1920

          .         .         .         .         .         .       g.86626
 tttttatatactcagaatatattttggttgttaaattaaattatgttccctttttcacag       c.*1980

          .         .         .         .         .         .       g.86686
 taacaaaatctgactcaggagaaatataacttaattcttaggaaaacaagggtaagtgag       c.*2040

          .         .         .         .         .         .       g.86746
 ctggaaagcaaaggaggcaaaaagtgaaatatatttatttacagtgtacagttcatgttt       c.*2100

          .         .         .         .         .         .       g.86806
 atgaacatactaattttaaaatgtcttaaattactgatctcaaaacttttttctatgtca       c.*2160

          .         .         .         .         .         .       g.86866
 gtacagataaataaataaatatacatattaggcaaaagcaacatcaccaaccttatattt       c.*2220

          .         .         .         .         .         .       g.86926
 cccattcatggtcaaattttcaaaggaaagtaaaagctgagctttactgagtgagtgttt       c.*2280

          .         .         .         .         .         .       g.86986
 actgactaataaggcaagaaaaaacatgatgagtgtactttacatcttacttttgtgggc       c.*2340

          .         .         .         .         .         .       g.87046
 tcttaatttttttctctagtttgttttcagtaaagacagtgggttttctttaaaataatt       c.*2400

          .         .         .         .         .         .       g.87106
 tttttcttttaaatttgcacaaattatcttaggtcagtattttggttttaatcattaaaa       c.*2460

          .         .         .         .         .         .       g.87166
 catttttagagtaatgtaatttaacaaatattttaagtgattatgtttccagaaatggat       c.*2520

          .         .         .         .         .         .       g.87226
 tctttggagagaactcggatgactatcagttttggccctgtaagatcgtggagatctgta       c.*2580

          .         .         .         .         .         .       g.87286
 agatagatacttatataacttacataaaatatatataatatattacttatataacttata       c.*2640

          .         .         .         .         .         .       g.87346
 taactagctattattttatataactaactataatatgacaaatcctttgctagtagtact       c.*2700

          .         .         .         .         .         .       g.87406
 aacaacgttttataggagcacaattaattttacttaggataagtgttgttattattgttt       c.*2760

          .         .         .         .         .         .       g.87466
 ttattgttgttctgttagttactcaaaacttcattctaattgtgccctgagtttgttaaa       c.*2820

          .         .         .         .         .         .       g.87526
 ataccatactgtatttttgtgtaacatgtaaataggcattaatttttgagaaatagaaat       c.*2880

          .         .         .         .         .         .       g.87586
 gtttatccttaatgtatttttaatttgctaacattgattttttattttctttcctgaaat       c.*2940

          .         .         .         .         .         .       g.87646
 agcttatttcctaaaatgaaagaatttattctcagatgaataatttttatatcagctatt       c.*3000

          .         .         .         .         .         .       g.87706
 cttatcaggtaaaagtttaattattttttatttataatatatgtaagcaattctcaatgc       c.*3060

          .         .         .         .                           g.87748
 tgctctttaagaaaaataaatatgattatattaataataagc                         c.*3102

 (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 ATP-binding cassette, sub-family A (ABC1), member 5 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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