ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1) - coding DNA reference sequence

(used for variant description)

(last modified June 19, 2025)


This file was created to facilitate the description of sequence variants on transcript NM_006421.4 in the ARFGEF1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering ARFGEF1 transcript NM_006421.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5030
                               gcggtgcctctgagagccgccgccacctcg       c.-361

 .         .         .         .         .         .                g.5090
 tccctcagttcccggcagacagccgcccgggccgggctccctcaccgccaccagggccgg       c.-301

 .         .         .         .         .         .                g.5150
 agggacgagtgagaggggcggccgggacgcgacccccgggccgggagaagcggaggcccg       c.-241

 .         .         .         .         .         .                g.5210
 acgggcgcggccctcgaggtacggcttcttgggggcggcgaggacctcgacgcccttcgc       c.-181

 .         .         .         .         .         .                g.5270
 cgacaccgcggctggtcccgctcgcccgccccttcctgatcctgccgctgccctccacgc       c.-121

 .         .         .         .         .         .                g.5330
 ctccaatcccccacctccaccccctctcctttctctcttctcttccttcctctcctcctc       c.-61

 .         .         .         .         .         .                g.5390
 ctcccctccagccgctgggagccgcgggtcggacgagccgccgcctccttctctgcgtcc       c.-1

          .         .         .         .         .         .       g.5450
 ATGTATGAGGGGAAGAAGACGAAGAACATGTTCCTGACCCGGGCTCTGGAGAAGATATTG       c.60
 M  Y  E  G  K  K  T  K  N  M  F  L  T  R  A  L  E  K  I  L         p.20

          .         .         .         .         .         .       g.5510
 GCCGACAAGGAAGTGAAGAAGGCGCATCACTCCCAGCTGCGCAAAGCTTGCGAGGTGGCG       c.120
 A  D  K  E  V  K  K  A  H  H  S  Q  L  R  K  A  C  E  V  A         p.40

      | 02   .         .         .      | 03  .         .         . g.47322
 TTAG | AGGAAATAAAAGCGGAAACTGAAAAACAGAG | TCCTCCTCATGGAGAAGCAAAAGCT c.180
 L  E |   E  I  K  A  E  T  E  K  Q  S  |  P  P  H  G  E  A  K  A   p.60

          .         .         .         .         .         .       g.47382
 GGATCAAGCACCCTTCCACCAGTGAAATCAAAGACAAATTTTATTGAAGCAGACAAGTAC       c.240
 G  S  S  T  L  P  P  V  K  S  K  T  N  F  I  E  A  D  K  Y         p.80

          .         .         .         .         .         .       g.47442
 TTCTTGCCTTTTGAGTTGGCATGCCAGTCCAAATGTCCTCGCATAGTTAGTACATCTCTA       c.300
 F  L  P  F  E  L  A  C  Q  S  K  C  P  R  I  V  S  T  S  L         p.100

          .   | 04     .         .         .         .         .    g.49370
 GATTGCTTACAG | AAACTTATTGCTTATGGGCACTTGACTGGCAATGCTCCAGATAGTACA    c.360
 D  C  L  Q   | K  L  I  A  Y  G  H  L  T  G  N  A  P  D  S  T      p.120

          .         .         .         .         .         .       g.49430
 ACACCAGGCAAAAAATTAATTGATAGAATTATTGAAACAATATGTGGCTGCTTTCAGGGC       c.420
 T  P  G  K  K  L  I  D  R  I  I  E  T  I  C  G  C  F  Q  G         p.140

          .         .         .          | 05        .         .    g.52088
 CCTCAGACAGATGAAGGAGTTCAGCTGCAGATAATAAAG | GCTTTACTTACTGCAGTAACA    c.480
 P  Q  T  D  E  G  V  Q  L  Q  I  I  K   | A  L  L  T  A  V  T      p.160

          .         .         .         .         .         .       g.52148
 TCACAACACATAGAAATTCATGAAGGGACTGTACTGCAAGCTGTGAGAACATGTTACAAT       c.540
 S  Q  H  I  E  I  H  E  G  T  V  L  Q  A  V  R  T  C  Y  N         p.180

          .         .         .         .         .         .       g.52208
 ATCTACTTAGCAAGCAAAAATCTCATCAATCAGACAACAGCCAAAGCTACTCTCACTCAG       c.600
 I  Y  L  A  S  K  N  L  I  N  Q  T  T  A  K  A  T  L  T  Q         p.200

          .         .         .          | 06        .         .    g.56575
 ATGCTAAATGTTATCTTTGCACGCATGGAAAACCAAGCA | TTACAGGAAGCAAAACAAATG    c.660
 M  L  N  V  I  F  A  R  M  E  N  Q  A   | L  Q  E  A  K  Q  M      p.220

          .         .         .         .         .         .       g.56635
 GAAAAAGAAAGGCATCGGCAGCATCATCATCTGTTACAGTCTCCAGTAAGCCATCACGAG       c.720
 E  K  E  R  H  R  Q  H  H  H  L  L  Q  S  P  V  S  H  H  E         p.240

          .         .         .         .         .         .       g.56695
 CCTGAATCACCTCAACTTAGATATTTGCCACCTCAGACTGTTGATCATATATCCCAAGAA       c.780
 P  E  S  P  Q  L  R  Y  L  P  P  Q  T  V  D  H  I  S  Q  E         p.260

          .         .         .         .         .         .       g.56755
 CACGAAGGGGACCTTGACCTCCATACAAATGATGTAGATAAAAGTCTTCAGGATGACACA       c.840
 H  E  G  D  L  D  L  H  T  N  D  V  D  K  S  L  Q  D  D  T         p.280

          .         .         .         .         .         .       g.56815
 GAGCCTGAAAATGGATCTGATATTTCCAGTGCAGAAAATGAACAGACTGAAGCTGATCAG       c.900
 E  P  E  N  G  S  D  I  S  S  A  E  N  E  Q  T  E  A  D  Q         p.300

          .       | 07 .         .         .         .         .    g.60656
 GCAACTGCAGCTGAAA | CATTATCTAAAAATGAAGTGTTATATGACGGAGAAAACCATGAT    c.960
 A  T  A  A  E  T |   L  S  K  N  E  V  L  Y  D  G  E  N  H  D      p.320

          .         .         .         .         .         .       g.60716
 TGTGAGGAAAAGCCACAAGACATTGTACAGAACATTGTAGAAGAAATGGTGAACATTGTT       c.1020
 C  E  E  K  P  Q  D  I  V  Q  N  I  V  E  E  M  V  N  I  V         p.340

         | 08.         .         .         .         .         .    g.71273
 GTTGGAG | ATATGGGAGAAGGGACTACTATAAATGCAAGTGCAGATGGCAACATTGGAACT    c.1080
 V  G  D |   M  G  E  G  T  T  I  N  A  S  A  D  G  N  I  G  T      p.360

          .         .         .         .         .         .       g.71333
 ATAGAGGATGGTAGTGACAGTGAAAATATTCAAGCAAATGGAATTCCAGGAACACCAATT       c.1140
 I  E  D  G  S  D  S  E  N  I  Q  A  N  G  I  P  G  T  P  I         p.380

          .         .         .         .         .         .       g.71393
 TCTGTTGCATATACACCATCCTTACCTGATGATAGATTGTCAGTCTCTTCCAATGATACT       c.1200
 S  V  A  Y  T  P  S  L  P  D  D  R  L  S  V  S  S  N  D  T         p.400

     | 09    .         .         .         .         .         .    g.72625
 CAG | GAATCTGGAAATTCTTCAGGACCTTCACCTGGTGCTAAGTTTTCCCACATTTTACAA    c.1260
 Q   | E  S  G  N  S  S  G  P  S  P  G  A  K  F  S  H  I  L  Q      p.420

          .         .         .         .         .         .       g.72685
 AAGGATGCCTTTCTAGTATTCAGGTCATTGTGTAAACTGTCAATGAAACCACTGTCAGAT       c.1320
 K  D  A  F  L  V  F  R  S  L  C  K  L  S  M  K  P  L  S  D         p.440

          .        | 10.         .         .         .         .    g.76784
 GGACCACCAGATCCAAA | GTCTCATGAACTACGATCCAAGATTCTTTCATTGCAGTTACTT    c.1380
 G  P  P  D  P  K  |  S  H  E  L  R  S  K  I  L  S  L  Q  L  L      p.460

          .         .         .         .         .         .       g.76844
 CTATCCATTCTGCAGAATGCAGGACCTATTTTCAGGACAAATGAGATGTTTATTAATGCT       c.1440
 L  S  I  L  Q  N  A  G  P  I  F  R  T  N  E  M  F  I  N  A         p.480

          .         .         .         .         .         .       g.76904
 ATTAAGCAGTATCTTTGTGTTGCACTCTCAAAAAATGGAGTCTCATCTGTTCCAGAGGTT       c.1500
 I  K  Q  Y  L  C  V  A  L  S  K  N  G  V  S  S  V  P  E  V         p.500

          .         .         .         .         .         .       g.76964
 TTTGAGCTTTCTCTTTCTATATTTCTTACTTTGTTGTCAAATTTCAAGACACATCTGAAG       c.1560
 F  E  L  S  L  S  I  F  L  T  L  L  S  N  F  K  T  H  L  K         p.520

          .   | 11     .         .         .         .         .    g.81283
 ATGCAAATTGAG | GTGTTCTTTAAAGAAATTTTCTTATACATTTTGGAAACTTCTACCAGC    c.1620
 M  Q  I  E   | V  F  F  K  E  I  F  L  Y  I  L  E  T  S  T  S      p.540

          .         .         .         .         .   | 12     .    g.81455
 TCATTTGATCACAAATGGATGGTTATTCAGACACTGACGAGGATTTGTGCAG | ATGCTCAG    c.1680
 S  F  D  H  K  W  M  V  I  Q  T  L  T  R  I  C  A  D |   A  Q      p.560

          .         .         .         .         .         .       g.81515
 AGTGTAGTGGATATTTATGTAAACTATGACTGTGACTTAAATGCAGCCAATATATTTGAA       c.1740
 S  V  V  D  I  Y  V  N  Y  D  C  D  L  N  A  A  N  I  F  E         p.580

          .         .         .         .         .         .       g.81575
 AGACTAGTAAATGATCTATCAAAAATTGCTCAAGGAAGGGGCAGTCAAGAACTTGGTATG       c.1800
 R  L  V  N  D  L  S  K  I  A  Q  G  R  G  S  Q  E  L  G  M         p.600

          .   | 13     .         .         .         .         .    g.81741
 AGTAATGTTCAG | GAATTGAGCCTGAGGAAAAAAGGTTTAGAATGCTTAGTGTCGATTTTG    c.1860
 S  N  V  Q   | E  L  S  L  R  K  K  G  L  E  C  L  V  S  I  L      p.620

          .         .         .         .         .         .       g.81801
 AAGTGTATGGTTGAATGGAGTAAGGATCAGTATGTGAATCCCAACTCCCAGACAACTCTT       c.1920
 K  C  M  V  E  W  S  K  D  Q  Y  V  N  P  N  S  Q  T  T  L         p.640

   | 14      .         .         .         .         .         .    g.82529
 G | GTCAGGAAAAACCCTCAGAGCAAGAGATGAGTGAAATCAAACACCCTGAGACAATAAAC    c.1980
 G |   Q  E  K  P  S  E  Q  E  M  S  E  I  K  H  P  E  T  I  N      p.660

          .         .         .         .         .         .       g.82589
 AGATACGGAAGTTTAAATTCCCTGGAGTCAACATCATCATCAGGAATAGGCAGCTACAGT       c.2040
 R  Y  G  S  L  N  S  L  E  S  T  S  S  S  G  I  G  S  Y  S         p.680

          .         .         .         .         .         .       g.82649
 ACACAGATGTCTGGCACTGATAATCCAGAACAATTTGAGGTCCTAAAGCAACAAAAAGAA       c.2100
 T  Q  M  S  G  T  D  N  P  E  Q  F  E  V  L  K  Q  Q  K  E         p.700

          .         .    | 15    .         .         .         .    g.88788
 ATAATAGAACAAGGGATAGATTT | ATTTAATAAGAAACCAAAGAGAGGAATACAGTACCTC    c.2160
 I  I  E  Q  G  I  D  L  |  F  N  K  K  P  K  R  G  I  Q  Y  L      p.720

          .         .         .         .         .         .       g.88848
 CAAGAACAAGGGATGCTTGGCACCACACCTGAAGATATTGCCCAATTCTTACATCAAGAG       c.2220
 Q  E  Q  G  M  L  G  T  T  P  E  D  I  A  Q  F  L  H  Q  E         p.740

          .      | 16  .         .         .         .         .    g.90432
 GAAAGATTAGACTCT | ACTCAAGTGGGTGAGTTCCTGGGAGATAATGATAAATTTAACAAA    c.2280
 E  R  L  D  S   | T  Q  V  G  E  F  L  G  D  N  D  K  F  N  K      p.760

          .         .         .         .         .         .       g.90492
 GAAGTCATGTATGCATATGTGGACCAACATGACTTTTCAGGAAAAGACTTCGTTTCAGCC       c.2340
 E  V  M  Y  A  Y  V  D  Q  H  D  F  S  G  K  D  F  V  S  A         p.780

          .         .         .         .         .         .       g.90552
 CTTCGTATGTTTCTAGAAGGATTTCGTCTTCCAGGGGAAGCTCAGAAAATCGATCGATTA       c.2400
 L  R  M  F  L  E  G  F  R  L  P  G  E  A  Q  K  I  D  R  L         p.800

          .         .         .         .  | 17      .         .    g.90880
 ATGGAAAAATTTGCTGCAAGATACCTAGAATGCAACCAAGG | ACAAACTCTCTTTGCTAGT    c.2460
 M  E  K  F  A  A  R  Y  L  E  C  N  Q  G  |  Q  T  L  F  A  S      p.820

          .         .         .         .         .         .       g.90940
 GCGGATACAGCTTATGTTTTGGCTTATTCAATTATCATGTTGACCACAGACCTTCACAGT       c.2520
 A  D  T  A  Y  V  L  A  Y  S  I  I  M  L  T  T  D  L  H  S         p.840

        | 18 .         .         .         .         .         .    g.95109
 CCACAG | GTGAAAAATAAAATGACAAAGGAACAATACATTAAGATGAATAGAGGTATCAAT    c.2580
 P  Q   | V  K  N  K  M  T  K  E  Q  Y  I  K  M  N  R  G  I  N      p.860

          .         .         .         .         .         .       g.95169
 GACAGTAAAGACCTTCCTGAAGAGTATCTATCAGCCATCTATAATGAAATAGCTGGGAAA       c.2640
 D  S  K  D  L  P  E  E  Y  L  S  A  I  Y  N  E  I  A  G  K         p.880

          .         .         .         .         .         | 19    g.97229
 AAGATATCAATGAAAGAAACAAAAGAACTAACAATCCCTACAAAATCAAGTAAACAGA | AT    c.2700
 K  I  S  M  K  E  T  K  E  L  T  I  P  T  K  S  S  K  Q  N |       p.900

          .         .         .         .         .         .       g.97289
 GTAGCCAGTGAAAAACAAAGAAGACTTCTGTATAACTTAGAAATGGAGCAGATGGCCAAG       c.2760
 V  A  S  E  K  Q  R  R  L  L  Y  N  L  E  M  E  Q  M  A  K         p.920

          .         .         .         .         .         .       g.97349
 ACAGCTAAAGCACTCATGGAGGCCGTGAGCCATGTTCAGGCACCCTTTACAAGTGCAACA       c.2820
 T  A  K  A  L  M  E  A  V  S  H  V  Q  A  P  F  T  S  A  T         p.940

          .         .         . | 20       .         .         .    g.108417
 CATTTGGAGCATGTGAGGCCCATGTTTAAG | TTGGCTTGGACGCCTTTTCTGGCTGCATTC    c.2880
 H  L  E  H  V  R  P  M  F  K   | L  A  W  T  P  F  L  A  A  F      p.960

          .         .         .         .         .         .       g.108477
 AGTGTGGGTCTACAAGATTGTGATGATACTGAAGTAGCCTCTCTTTGCCTGGAAGGTATA       c.2940
 S  V  G  L  Q  D  C  D  D  T  E  V  A  S  L  C  L  E  G  I         p.980

          .         .         .          | 21        .         .    g.109805
 AGATGTGCAATCAGAATTGCATGCATTTTCAGCATTCAG | CTGGAGAGAGATGCATATGTC    c.3000
 R  C  A  I  R  I  A  C  I  F  S  I  Q   | L  E  R  D  A  Y  V      p.1000

          .         .         .         .         .         .       g.109865
 CAGGCACTAGCAAGATTTACCTTACTCACAGTGAGTTCCGGTATTACTGAAATGAAACAG       c.3060
 Q  A  L  A  R  F  T  L  L  T  V  S  S  G  I  T  E  M  K  Q         p.1020

          .         .         .         .         .         .       g.109925
 AAGAACATTGACACAATAAAAACACTTATCACAGTGGCTCATACAGATGGAAATTATTTA       c.3120
 K  N  I  D  T  I  K  T  L  I  T  V  A  H  T  D  G  N  Y  L         p.1040

          .         | 22         .         .         .         .    g.110226
 GGAAATTCATGGCATGAG | ATTCTGAAGTGCATCAGTCAGTTGGAGCTGGCACAGCTTATA    c.3180
 G  N  S  W  H  E   | I  L  K  C  I  S  Q  L  E  L  A  Q  L  I      p.1060

          .         .         .         .         .         .       g.110286
 GGAACTGGAGTGAAACCTCGATACATTTCTGGAACAGTGCGAGGCAGAGAAGGATCTCTT       c.3240
 G  T  G  V  K  P  R  Y  I  S  G  T  V  R  G  R  E  G  S  L         p.1080

          .         .         .         .          | 23        .    g.115743
 ACTGGAACAAAAGATCAGGCTCCTGATGAATTTGTGGGTTTAGGGCTAG | TTGGAGGAAAT    c.3300
 T  G  T  K  D  Q  A  P  D  E  F  V  G  L  G  L  V |   G  G  N      p.1100

          .         .         .         .         .         .       g.115803
 GTGGACTGGAAACAGATAGCAAGTATTCAGGAATCCATTGGAGAAACCAGTTCTCAGAGT       c.3360
 V  D  W  K  Q  I  A  S  I  Q  E  S  I  G  E  T  S  S  Q  S         p.1120

          .         . | 24       .         .         .         .    g.120453
 GTTGTTGTTGCTGTAGATAG | AATATTCACAGGATCTACAAGGCTAGATGGAAATGCCATT    c.3420
 V  V  V  A  V  D  R  |  I  F  T  G  S  T  R  L  D  G  N  A  I      p.1140

   | 25      .         .         .         .         .         .    g.120604
 G | TGGATTTTGTCCGTTGGCTCTGTGCTGTGTCTATGGATGAATTACTTTCCACGACACAC    c.3480
 V |   D  F  V  R  W  L  C  A  V  S  M  D  E  L  L  S  T  T  H      p.1160

          .         .         .         .         .         .       g.120664
 CCAAGAATGTTTAGTCTACAAAAAATAGTAGAAATATCATATTACAACATGGGAAGAATA       c.3540
 P  R  M  F  S  L  Q  K  I  V  E  I  S  Y  Y  N  M  G  R  I         p.1180

          .         .         .         .         .  | 26      .    g.121088
 AGATTACAGTGGTCTCGAATTTGGGAAGTTATTGGAGATCATTTTAATAAG | GTTGGGTGT    c.3600
 R  L  Q  W  S  R  I  W  E  V  I  G  D  H  F  N  K   | V  G  C      p.1200

          .         .         .         .         .         .       g.121148
 AATCCTAATGAAGATGTAGCTATTTTTGCAGTAGACTCCTTGAGGCAGTTGTCAATGAAG       c.3660
 N  P  N  E  D  V  A  I  F  A  V  D  S  L  R  Q  L  S  M  K         p.1220

          .         .         .         .         .         .       g.121208
 TTCTTAGAGAAAGGGGAGCTTGCTAACTTCAGATTCCAGAAGGATTTCTTAAGACCTTTT       c.3720
 F  L  E  K  G  E  L  A  N  F  R  F  Q  K  D  F  L  R  P  F         p.1240

          .         .    | 27    .         .         .         .    g.121405
 GAACATATAATGAAACGGAACAG | GTCTCCAACAATTCGAGATATGGTTGTACGGTGTATA    c.3780
 E  H  I  M  K  R  N  R  |  S  P  T  I  R  D  M  V  V  R  C  I      p.1260

          .         .         .         .         .         .       g.121465
 GCACAGATGGTTAATTCTCAAGCTGCTAACATTCGATCTGGATGGAAGAACATTTTCTCT       c.3840
 A  Q  M  V  N  S  Q  A  A  N  I  R  S  G  W  K  N  I  F  S         p.1280

          .         .         .         .         .         .       g.121525
 GTATTTCATCTAGCTGCATCTGATCAAGATGAAAGCATAGTGGAACTTGCATTCCAAACA       c.3900
 V  F  H  L  A  A  S  D  Q  D  E  S  I  V  E  L  A  F  Q  T         p.1300

          .       | 28 .         .         .         .         .    g.122538
 ACCGGGCACATTGTCA | CCCTTGTATTTGAAAAACACTTTCCAGCGACCATTGATTCTTTC    c.3960
 T  G  H  I  V  T |   L  V  F  E  K  H  F  P  A  T  I  D  S  F      p.1320

          .         .         .         .         .         .       g.122598
 CAGGATGCAGTGAAGTGTTTGTCTGAATTTGCGTGCAATGCAGCTTTCCCAGACACAAGT       c.4020
 Q  D  A  V  K  C  L  S  E  F  A  C  N  A  A  F  P  D  T  S         p.1340

          .         .         .         .         .        | 29.    g.123647
 ATGGAAGCAATTCGACTTATTCGCCATTGTGCAAAATATGTGTCTGATAGACCTCAG | GCT    c.4080
 M  E  A  I  R  L  I  R  H  C  A  K  Y  V  S  D  R  P  Q   | A      p.1360

          .         .         .         .         .         .       g.123707
 TTCAAGGAATACACAAGCGATGATATGAACGTAGCACCTGAAGACAGGGTGTGGGTGAGA       c.4140
 F  K  E  Y  T  S  D  D  M  N  V  A  P  E  D  R  V  W  V  R         p.1380

          .         .         .         .         .         .       g.123767
 GGATGGTTCCCAATTCTCTTTGAGTTATCCTGTATCATCAATAGATGCAAATTAGATGTA       c.4200
 G  W  F  P  I  L  F  E  L  S  C  I  I  N  R  C  K  L  D  V         p.1400

          | 30         .         .         .         .         .    g.129169
 AGAACCAG | GGGTTTAACAGTAATGTTTGAAATAATGAAAACATATGGCCACACTTATGAG    c.4260
 R  T  R  |  G  L  T  V  M  F  E  I  M  K  T  Y  G  H  T  Y  E      p.1420

          .         .         .         .         .         .       g.129229
 AAACACTGGTGGCAGGATTTATTTAGAATTGTTTTCAGAATCTTTGACAATATGAAATTG       c.4320
 K  H  W  W  Q  D  L  F  R  I  V  F  R  I  F  D  N  M  K  L         p.1440

          .         | 31         .         .         .         .    g.130581
 CCAGAACAACAGACAGAG | AAAGCTGAATGGATGACAACAACTTGCAATCATGCACTTTAT    c.4380
 P  E  Q  Q  T  E   | K  A  E  W  M  T  T  T  C  N  H  A  L  Y      p.1460

          .         .         .         .         .         .       g.130641
 GCAATCTGTGATGTATTCACTCAGTATTTAGAAGTACTCAGTGATGTACTTTTGGATGAC       c.4440
 A  I  C  D  V  F  T  Q  Y  L  E  V  L  S  D  V  L  L  D  D         p.1480

          .         .         .     | 32   .         .         .    g.130783
 ATTTTTGCTCAGCTCTACTGGTGTGTGCAGCAAG | ACAATGAGCAGTTAGCGCGATCTGGT    c.4500
 I  F  A  Q  L  Y  W  C  V  Q  Q  D |   N  E  Q  L  A  R  S  G      p.1500

          .         .         .         .         .         .       g.130843
 ACAAACTGTTTAGAGAATGTTGTTATTCTGAATGGTGAAAAATTTACCCTAGAAATCTGG       c.4560
 T  N  C  L  E  N  V  V  I  L  N  G  E  K  F  T  L  E  I  W         p.1520

          .         .         .         .         .    | 33    .    g.132022
 GATAAAACTTGCAACTGCACACTGGATATCTTCAAAACCACAATCCCACATGC | GCTGTTG    c.4620
 D  K  T  C  N  C  T  L  D  I  F  K  T  T  I  P  H  A  |  L  L      p.1540

          .         .         .         .         .         .       g.132082
 ACCTGGCGACCCAATTCTGGAGAAACTGCCCCCCCACCTCCATCTCCTGTAAGTGAAAAG       c.4680
 T  W  R  P  N  S  G  E  T  A  P  P  P  P  S  P  V  S  E  K         p.1560

        | 34 .         .         .         .         .         .    g.137116
 CCATTG | GATACAATATCACAGAAGTCTGTAGATATTCATGATTCTATTCAACCAAGGTCT    c.4740
 P  L   | D  T  I  S  Q  K  S  V  D  I  H  D  S  I  Q  P  R  S      p.1580

          .         .         .         .         .         .       g.137176
 GTGGATAACAGACCACAAGCACCACTGGTTTCTGCGTCTGCTGTTAATGAAGAAGTCAGC       c.4800
 V  D  N  R  P  Q  A  P  L  V  S  A  S  A  V  N  E  E  V  S         p.1600

          .          | 35        .         .         .         .    g.143899
 AAAATTAAATCTACAGCAA | AATTTCCAGAACAAAAATTGTTTGCTGCCCTGTTGATTAAA    c.4860
 K  I  K  S  T  A  K |   F  P  E  Q  K  L  F  A  A  L  L  I  K      p.1620

          .         .         .         .         .         .       g.143959
 TGTGTTGTGCAGCTGGAACTCATCCAGACTATCGACAACATTGTCTTCTTCCCAGCCACA       c.4920
 C  V  V  Q  L  E  L  I  Q  T  I  D  N  I  V  F  F  P  A  T         p.1640

          .         .         .          | 36        .         .    g.145447
 AGTAAGAAAGAAGATGCAGAAAACTTAGCTGCAGCACAG | AGAGATGCGGTGGACTTTGAT    c.4980
 S  K  K  E  D  A  E  N  L  A  A  A  Q   | R  D  A  V  D  F  D      p.1660

          .         .         .         .         .         .       g.145507
 GTTCGCGTTGATACTCAAGACCAAGGAATGTACCGCTTTTTAACATCACAACAACTTTTT       c.5040
 V  R  V  D  T  Q  D  Q  G  M  Y  R  F  L  T  S  Q  Q  L  F         p.1680

          .         .         .         .         .         .       g.145567
 AAGCTACTGGACTGCTTATTAGAGTCACATAGATTTGCAAAAGCGTTTAATTCCAACAAC       c.5100
 K  L  L  D  C  L  L  E  S  H  R  F  A  K  A  F  N  S  N  N         p.1700

          .         .         | 37         .         .         .    g.147104
 GAACAGAGGACTGCCCTGTGGAAAGCAG | GATTCAAAGGCAAATCCAAGCCCAACCTTCTG    c.5160
 E  Q  R  T  A  L  W  K  A  G |   F  K  G  K  S  K  P  N  L  L      p.1720

          .         .         .         .         .         .       g.147164
 AAGCAGGAGACCAGCAGCCTGGCCTGTGGGCTGCGCATTCTCTTCCGGATGTACATGGAT       c.5220
 K  Q  E  T  S  S  L  A  C  G  L  R  I  L  F  R  M  Y  M  D         p.1740

          .         .         .         .        | 38.         .    g.148177
 GAGAGCCGCGTTAGTGCCTGGGAGGAGGTCCAGCAGAGGCTTTTGAA | TGTCTGCAGTGAA    c.5280
 E  S  R  V  S  A  W  E  E  V  Q  Q  R  L  L  N  |  V  C  S  E      p.1760

          .         .         .         .         .         .       g.148237
 GCACTAAGTTACTTCCTCACTCTAACATCAGAAAGTCATCGAGAAGCCTGGACTAACTTA       c.5340
 A  L  S  Y  F  L  T  L  T  S  E  S  H  R  E  A  W  T  N  L         p.1780

          .         .         .         .      | 39  .         .    g.149594
 CTGCTTTTGTTTCTAACTAAAGTTCTAAAGATAAGTGATAATAGG | TTTAAAGCTCATGCA    c.5400
 L  L  L  F  L  T  K  V  L  K  I  S  D  N  R   | F  K  A  H  A      p.1800

          .         .         .         .         .         .       g.149654
 TCATTCTACTACCCTCTCTTATGTGAAATTATGCAATTTGACTTGATTCCTGAACTTCGT       c.5460
 S  F  Y  Y  P  L  L  C  E  I  M  Q  F  D  L  I  P  E  L  R         p.1820

          .         .         .         .         .         .       g.149714
 GCTGTTCTTAGAAGATTTTTTCTGCGAATCGGAGTAGTTTTTCAGATATCACAACCACCT       c.5520
 A  V  L  R  R  F  F  L  R  I  G  V  V  F  Q  I  S  Q  P  P         p.1840

          .         .         .                                     g.149744
 GAACAGGAACTTGGAATAAACAAGCAATGA                                     c.5550
 E  Q  E  L  G  I  N  K  Q  X                                       p.1849

          .         .         .         .         .         .       g.149804
 tgggaacttaatatttttgttggcatttacatccctctgctctttaaaaggacgctggag       c.*60

          .         .         .         .         .         .       g.149864
 ctgaggtttcctacctgaaaaatgatttctctggattgcagtgtctgagttactggtaaa       c.*120

          .         .         .         .         .         .       g.149924
 gatgcttagaagtcttactcaaacttgcaacactccagtcccttttagtgctggtggatt       c.*180

          .         .         .         .         .         .       g.149984
 ttgtgtgttatattggcctcatgttgagcagaaagcctgtttaaacagtgtcagctcatg       c.*240

          .         .         .         .         .         .       g.150044
 ctcacgggtccttccctgtcttccacggcaggaaaagccccacgtttttggcaggtgtgg       c.*300

          .         .         .         .         .         .       g.150104
 aagtgaaacttacccaaagaactatagatgtaaagattgaacttctacaagaagtacaac       c.*360

          .         .         .         .         .         .       g.150164
 tcaggagagctgtattttgaaggataaaatgtttataattggggagtggggagagaagaa       c.*420

          .         .         .         .         .         .       g.150224
 gaaattattgttcatggtaaaagatatttagcaactatggtattcttattctgaagattt       c.*480

          .         .         .         .         .         .       g.150284
 ttgcacactcaggctatctgagatactggtaatcatcctgtgaaaaatgtacagagatgc       c.*540

          .         .         .         .         .         .       g.150344
 aggtctgtaatataaaaatcttaaaacattatatagttcttcctgcactgttttctttat       c.*600

          .         .         .         .         .         .       g.150404
 tttcttattcatttgctaaatacccataatattttgtcaaatgcactaaacatttgggtg       c.*660

          .         .         .         .         .         .       g.150464
 gaactttcttttttattttatagggatttttagttttgccctttttggtaggtggtgatt       c.*720

          .         .         .         .         .         .       g.150524
 ttgaggctgtaacatgcccagaagctgttgtggccgacacttcaacaatagggaaaaaaa       c.*780

          .         .         .         .         .         .       g.150584
 ggtagaaaatatccctactgacagtaactacctgtcacatatttctcttaggacttttaa       c.*840

          .         .         .         .         .         .       g.150644
 agatgagccattaaaatagaatgatcctttatggaccaaaacttgaatcactgcaaaatg       c.*900

          .         .         .         .         .         .       g.150704
 aatccagattgctgtcattttcttttcttttgggtggtggggcttgatgtagattttact       c.*960

          .         .         .         .         .         .       g.150764
 ctatgtacagaatttaacgttgaatatattaaaataacaaatctggcatggtttgcggag       c.*1020

          .         .         .         .         .         .       g.150824
 gttagatttactggaaatgtattcatactgtgaattgtgctctgatggttaaaagacaag       c.*1080

          .         .         .         .         .         .       g.150884
 attgtcaagcattccgtattaacagtggatgtagaaaattttttcagatggacaaaatgt       c.*1140

          .         .         .         .         .         .       g.150944
 atatggtacagatgtaaagttttctatgtaaaaaattctgtacaactttctgtacaatat       c.*1200

          .         .         .         .         .         .       g.151004
 tgattcccatctggcatattctaatcaggttataggtcaataaagtttttgaattatttc       c.*1260

          .         .                                               g.151029
 atcagtgcaatcaaaacctgtataa                                          c.*1285

 (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 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 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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