AF4/FMR2 family, member 3 (AFF3) - coding DNA reference sequence

(used for variant description)

(last modified July 22, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_002285.2 in the AFF3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_052835.1, covering AFF3 transcript NM_002285.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5064
     cgccagcgagaagagagctccacgctcagcctcagaagaaagacgttcaacgactt       c.-181

 .         .         .         .      | 02  .         .             g.42024
 actggggagagaaagaaaaggaacgggagctgagag | ctgatcacctgcctttccagaccg    c.-121

 .         .         .         .         .         .      | 03      g.43069
 gagacgggcggcaagtttgaagtcgacacccagaggccagtttgtcccccttcccg | cgcg    c.-61

 .         .         .         .         .         .                g.43129
 cgggcggcccgagcctcggcggcggcggtagcggcggcggcgacgctgacacctcccacc       c.-1

          .         .         .         .         .    | 04    .    g.138658
 ATGGACAGCTTCGACTTAGCCCTGCTCCAGGAATGGGACCTCGAGTCACTGTG | TGTCTAT    c.60
 M  D  S  F  D  L  A  L  L  Q  E  W  D  L  E  S  L  C  |  V  Y      p.20

          .         .         .         .         .         .       g.138718
 GAACCAGATAGAAATGCATTACGGAGGAAAGAACGAGAAAGAAGAAATCAAGAAACTCAA       c.120
 E  P  D  R  N  A  L  R  R  K  E  R  E  R  R  N  Q  E  T  Q         p.40

          .         .         .         .         .     | 05   .    g.140129
 CAGGATGATGGCACGTTTAATTCTAGTTACTCTCTCTTCAGTGAGCCCTACAAG | ACTAAC    c.180
 Q  D  D  G  T  F  N  S  S  Y  S  L  F  S  E  P  Y  K   | T  N      p.60

          .         .         .         .         .         .       g.140189
 AAGGGGGATGAACTCTCCAACCGGATCCAGAACACTTTAGGCAATTATGATGAAATGAAA       c.240
 K  G  D  E  L  S  N  R  I  Q  N  T  L  G  N  Y  D  E  M  K         p.80

          .         .         .         .         .         .       g.140249
 GACTTTTTAACTGATAGATCCAATCAGAGTCATCTCGTTGGAGTTCCCAAACCTGGGGTT       c.300
 D  F  L  T  D  R  S  N  Q  S  H  L  V  G  V  P  K  P  G  V         p.100

          .         .         .         .         .         .       g.140309
 CCTCAGACTCCTGTGAACAAGATCGATGAACATTTTGTTGCAGATTCAAGAGCCCAGAAC       c.360
 P  Q  T  P  V  N  K  I  D  E  H  F  V  A  D  S  R  A  Q  N         p.120

          .         .         .         .         .         .       g.140369
 CAGCCCTCGTCTATCTGTAGCACTACAACTTCCACACCAGCAGCTGTCCCCGTGCAGCAG       c.420
 Q  P  S  S  I  C  S  T  T  T  S  T  P  A  A  V  P  V  Q  Q         p.140

          .         .         .         .         .         .       g.140429
 AGTAAGAGAGGCACTATGGGCTGGCAGAAGGCTGGGCACCCACCCTCTGACGGCCAACAG       c.480
 S  K  R  G  T  M  G  W  Q  K  A  G  H  P  P  S  D  G  Q  Q         p.160

         | 06.         .         .         .         .         .    g.140619
 AGAGCAA | CACAACAGGGCTCTCTCAGGACCTTGCTTGGAGATGGTGTTGGCAGACAGCAG    c.540
 R  A  T |   Q  Q  G  S  L  R  T  L  L  G  D  G  V  G  R  Q  Q      p.180

          .         .         .         .         .         .       g.140679
 CCTCGGGCCAAACAAGTGTGCAATGTGGAGGTGGGCCTTCAGACCCAGGAGAGGCCACCT       c.600
 P  R  A  K  Q  V  C  N  V  E  V  G  L  Q  T  Q  E  R  P  P         p.200

          .         .         .         .         .         .       g.140739
 GCCATGGCGGCCAAGCACAGCAGCAGCGGACACTGTGTTCAGAACTTTCCTCCATCCCTA       c.660
 A  M  A  A  K  H  S  S  S  G  H  C  V  Q  N  F  P  P  S  L         p.220

          .         .         .         .         .         .       g.140799
 GCTTCAAAACCCAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGC       c.720
 A  S  K  P  S  L  V  Q  Q  K  P  T  A  Y  V  R  P  M  D  G         p.240

          .         .         .         .         .         .       g.140859
 CAAGATCAGGCCCCTGATGAGTCTCCTAAGCTGAAGTCGTCTTCGGAAACCAGCGTGCAC       c.780
 Q  D  Q  A  P  D  E  S  P  K  L  K  S  S  S  E  T  S  V  H         p.260

          .         .         .         .         .         .       g.140919
 TGCACATCATACAGGGGAGTCCCTGCCAGCAAGCCGGAGCCTGCCAGAGCCAAGGCCAAG       c.840
 C  T  S  Y  R  G  V  P  A  S  K  P  E  P  A  R  A  K  A  K         p.280

          .         .         .    | 07    .         .         .    g.310086
 CTCTCCAAGTTCAGCATCCCCAAGCAGGGGGAG | GAGAGTAGATCTGGAGAAACCAACAGC    c.900
 L  S  K  F  S  I  P  K  Q  G  E   | E  S  R  S  G  E  T  N  S      p.300

          .         .  | 08      .         .         .         .    g.395321
 TGTGTTGAAGAAATAATCCGG | GAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCA    c.960
 C  V  E  E  I  I  R   | E  M  T  W  L  P  P  L  S  A  I  Q  A      p.320

          .         .         .         .   | 09     .         .    g.403461
 CCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAG | GACTCTCAGCTTGTATCC    c.1020
 P  G  K  V  E  P  T  K  F  P  F  P  N  K   | D  S  Q  L  V  S      p.340

          .          | 10        .         .         .         .    g.420496
 TCTGGACACAATAATCCAA | AGAAAGGTGATGCAGAGCCAGAGAGTCCAGACAATGGCACA    c.1080
 S  G  H  N  N  P  K |   K  G  D  A  E  P  E  S  P  D  N  G  T      p.360

          .  | 11      .         .         .         .         .    g.475043
 TCGAATACATC | AATGCTGGAAGATGACCTTAAGCTAAGCAGTGATGAAGAGGAGAATGAA    c.1140
 S  N  T  S  |  M  L  E  D  D  L  K  L  S  S  D  E  E  E  N  E      p.380

     | 12    .         .         .         .     | 13   .         . g.545978
 CAG | CAGGCAGCTCAGAGAACGGCTCTCCGCGCTCTCTCTGACAG | CGCCGTGGTCCAGCAG c.1200
 Q   | Q  A  A  Q  R  T  A  L  R  A  L  S  D  S  |  A  V  V  Q  Q   p.400

          .         .         .         .         .         .       g.546038
 CCCAACTGCAGAACCTCGGTGCCTTCCAGCAAGGGCAGCAGCAGCAGCAGCAGCAGCGGC       c.1260
 P  N  C  R  T  S  V  P  S  S  K  G  S  S  S  S  S  S  S  G         p.420

          .         .         .         .         .         .       g.546098
 AGCAGCAGCTCCTCCAGCGACTCAGAGAGCAGCTCCGGATCTGACTCGGAGACCGAGAGC       c.1320
 S  S  S  S  S  S  D  S  E  S  S  S  G  S  D  S  E  T  E  S         p.440

          .         .         .         .         .  | 14      .    g.553303
 AGCTCCAGCGAGAGTGAGGGCAGCAAGCCCCCCCACTTCTCCAGCCCCGAG | GCTGAACCG    c.1380
 S  S  S  E  S  E  G  S  K  P  P  H  F  S  S  P  E   | A  E  P      p.460

          .         .         .         .         .         .       g.553363
 GCATCCTCTAACAAGTGGCAGCTGGATAAATGGCTAAACAAAGTTAATCCCCACAAGCCT       c.1440
 A  S  S  N  K  W  Q  L  D  K  W  L  N  K  V  N  P  H  K  P         p.480

          .         .         .         .         .         .       g.553423
 CCTATTCTGATCCAAAATGAAAGCCACGGGTCAGAGAGCAATCAGTACTACAACCCGGTG       c.1500
 P  I  L  I  Q  N  E  S  H  G  S  E  S  N  Q  Y  Y  N  P  V         p.500

          .         .         .         .         .         .       g.553483
 AAAGAGGACGTCCAGGACTGTGGGAAAGTCCCCGACGTTTGCCAGCCCAGCCTGAGAGAG       c.1560
 K  E  D  V  Q  D  C  G  K  V  P  D  V  C  Q  P  S  L  R  E         p.520

          .         .         .         .         .         .       g.553543
 AAGGAGATCAAGAGCACTTGCAAGGAGGAGCAAAGGCCAAGGACAGCCAACAAGGCCCCT       c.1620
 K  E  I  K  S  T  C  K  E  E  Q  R  P  R  T  A  N  K  A  P         p.540

          .         .         .         .         .         .       g.553603
 GGGAGTAAAGGCGTGAAGCAGAAGTCCCCGCCCGCGGCCGTGGCCGTGGCGGTGAGCGCA       c.1680
 G  S  K  G  V  K  Q  K  S  P  P  A  A  V  A  V  A  V  S  A         p.560

          .         .         .         .         .         .       g.553663
 GCCGCCCCGCCACCCGCAGTGCCCTGTGCGCCCGCGGAGAACGCGCCCGCGCCTGCCCGG       c.1740
 A  A  P  P  P  A  V  P  C  A  P  A  E  N  A  P  A  P  A  R         p.580

          .         .         .         .         .         .       g.553723
 AGGTCCGCGGGCAAGAAGCCCACCAGGCGCACCGAGAGGACCTCAGCCGGGGACGGCGCC       c.1800
 R  S  A  G  K  K  P  T  R  R  T  E  R  T  S  A  G  D  G  A         p.600

          .         .         .         .         .         .       g.553783
 AACTGCCACCGGCCCGAGGAGCCCGCGGCCGCGGACGCGCTGGGGACGAGCGTGGTGGTC       c.1860
 N  C  H  R  P  E  E  P  A  A  A  D  A  L  G  T  S  V  V  V         p.620

          .         .         .         .         .         .       g.553843
 CCCCCGGAGCCCACCAAAACCAGGCCCTGTGGCAACAACAGAGCGAGCCACCGCAAGGAG       c.1920
 P  P  E  P  T  K  T  R  P  C  G  N  N  R  A  S  H  R  K  E         p.640

          .         .         .         .         .         .       g.553903
 CTGCGCTCCTCCGTGACCTGCGAGAAGCGCCGCACGCGGGGGCTAAGCAGGATCGTCCCC       c.1980
 L  R  S  S  V  T  C  E  K  R  R  T  R  G  L  S  R  I  V  P         p.660

          .         .         .         .         .         .       g.553963
 AAATCCAAGGAGTTCATTGAGACAGAGTCGTCATCTTCATCCTCCTCCTCGGACTCCGAC       c.2040
 K  S  K  E  F  I  E  T  E  S  S  S  S  S  S  S  S  D  S  D         p.680

          .         .         .         .         .         .       g.554023
 CTGGAGTCCGAGCAGGAGGAGTACCCTCTGTCCAAAGCACAGACCGTGGCTGCCTCTGCC       c.2100
 L  E  S  E  Q  E  E  Y  P  L  S  K  A  Q  T  V  A  A  S  A         p.700

          .         .         .         .         .         .       g.554083
 TCCTCCGGGAATGATCAGAGGCTGAAGGAGGCCGCTGCCAACGGGGGCAGTGGTCCTAGG       c.2160
 S  S  G  N  D  Q  R  L  K  E  A  A  A  N  G  G  S  G  P  R         p.720

          .         .         .         .         .         .       g.554143
 GCCCCTGTAGGCTCCATCAACGCCAGGACCACCAGTGACATCGCCAAGGAGCTGGAGGAG       c.2220
 A  P  V  G  S  I  N  A  R  T  T  S  D  I  A  K  E  L  E  E         p.740

          .         .         .         .         .         .       g.554203
 CAGTTCTACACACTGGTCCCCTTTGGCCGGAACGAACTTCTCTCCCCTCTAAAGGACAGT       c.2280
 Q  F  Y  T  L  V  P  F  G  R  N  E  L  L  S  P  L  K  D  S         p.760

          .         .         .         .         .         .       g.554263
 GATGAGATCAGGTCTCTCTGGGTCAAAATCGACCTGACCCTCCTGTCCAGGATCCCAGAA       c.2340
 D  E  I  R  S  L  W  V  K  I  D  L  T  L  L  S  R  I  P  E         p.780

          .         .         .         .         .         .       g.554323
 CACCTGCCCCAGGAGCCAGGGGTATTGAGCGCCCCTGCCACCAAGGACTCTGAGAGCGCA       c.2400
 H  L  P  Q  E  P  G  V  L  S  A  P  A  T  K  D  S  E  S  A         p.800

          .         .         .         .         .         .       g.554383
 CCGCCCAGCCACACCTCGGACACACCTGCAGAAAAGGCTTTGCCAAAATCCAAGAGGAAA       c.2460
 P  P  S  H  T  S  D  T  P  A  E  K  A  L  P  K  S  K  R  K         p.820

        | 15 .         .         .         .         .         .    g.560359
 CGCAAG | TGTGACAACGAAGACGACTACAGGGAGATCAAGAAGTCCCAGGGAGAGAAAGAC    c.2520
 R  K   | C  D  N  E  D  D  Y  R  E  I  K  K  S  Q  G  E  K  D      p.840

          .         .         .         .         .         .       g.560419
 AGCTCTTCAAGACTGGCCACCTCCACCAGTAATACTTTGTCTGCAAACCACTGCAACATG       c.2580
 S  S  S  R  L  A  T  S  T  S  N  T  L  S  A  N  H  C  N  M         p.860

          .  | 16      .         .         .         .         .    g.564633
 AACATCAACAG | TGTGGCAATACCAATAAATAAAAATGAAAAAATGCTTCGGTCGCCCATC    c.2640
 N  I  N  S  |  V  A  I  P  I  N  K  N  E  K  M  L  R  S  P  I      p.880

          .         .         .         .         .         .       g.564693
 TCACCCCTCTCTGATGCATCTAAACACAAATACACCAGCGAGGACTTAACTTCTTCCAGC       c.2700
 S  P  L  S  D  A  S  K  H  K  Y  T  S  E  D  L  T  S  S  S         p.900

          .         .         .         .         .         .       g.564753
 CGACCTAATGGCAACAGTTTGTTTACTTCAGCCTCTTCCAGCAAAAAGCCTAAGGCCGAC       c.2760
 R  P  N  G  N  S  L  F  T  S  A  S  S  S  K  K  P  K  A  D         p.920

          .         .         .    | 17    .         .         .    g.569159
 AGCCAGCTGCAGCCTCACGGCGGAGACCTCACG | AAAGCAGCTCACAACAATTCTGAAAAC    c.2820
 S  Q  L  Q  P  H  G  G  D  L  T   | K  A  A  H  N  N  S  E  N      p.940

          .         .         .         .         .         .       g.569219
 ATTCCCCTCCACAAGTCACGGCCGCAGACGAAGCCGTGGTCTCCAGGCTCCAACGGCCAC       c.2880
 I  P  L  H  K  S  R  P  Q  T  K  P  W  S  P  G  S  N  G  H         p.960

          .         .         .         | 18         .         .    g.578690
 AGGGACTGCAAGAGGCAGAAACTTGTCTTCGATGATAT | GCCTCGCAGTGCCGATTATTTT    c.2940
 R  D  C  K  R  Q  K  L  V  F  D  D  M  |  P  R  S  A  D  Y  F      p.980

          .         .         .         .   | 19     .         .    g.581978
 ATGCAAGAAGCTAAACGAATGAAGCATAAAGCAGATGCAATG | GTGGAAAAGTTTGGAAAG    c.3000
 M  Q  E  A  K  R  M  K  H  K  A  D  A  M   | V  E  K  F  G  K      p.1000

          .         .         .         .         .         .       g.582038
 GCTTTGAACTATGCTGAAGCAGCATTGTCGTTTATCGAGTGTGGAAATGCAATGGAACAA       c.3060
 A  L  N  Y  A  E  A  A  L  S  F  I  E  C  G  N  A  M  E  Q         p.1020

          .         .         .         .         .          | 20    g.587148
 GGCCCCATGGAATCCAAATCTCCTTATACGATGTATTCAGAAACAGTAGAGCTCATCAG | G    c.3120
 G  P  M  E  S  K  S  P  Y  T  M  Y  S  E  T  V  E  L  I  R  |      p.1040

          .         .         .         .         .         .       g.587208
 TATGCTATGAGACTAAAAACCCACTCAGGCCCCAATGCCACACCAGAAGACAAACAACTG       c.3180
 Y  A  M  R  L  K  T  H  S  G  P  N  A  T  P  E  D  K  Q  L         p.1060

          .  | 21      .         .         .         .         .    g.588664
 GCTGCATTATG | TTACCGATGCCTGGCCCTCCTGTACTGGCGGATGTTTCGACTCAAAAGG    c.3240
 A  A  L  C  |  Y  R  C  L  A  L  L  Y  W  R  M  F  R  L  K  R      p.1080

          .         .         .         .      | 22  .         .    g.592866
 GACCACGCTGTAAAGTATTCAAAAGCACTAATCGACTATTTCAAG | AACTCATCTAAAGCC    c.3300
 D  H  A  V  K  Y  S  K  A  L  I  D  Y  F  K   | N  S  S  K  A      p.1100

          .         .         .      | 23  .         .         .    g.593074
 GCCCAAGCCCCATCTCCGTGGGGGGCCAGTGGAAA | GAGCACTGGAACCCCATCCCCCATG    c.3360
 A  Q  A  P  S  P  W  G  A  S  G  K  |  S  T  G  T  P  S  P  M      p.1120

          .         .         .         .         .         .       g.593134
 TCTCCCAACCCCTCTCCCGCCAGCTCCGTGGGGTCTCAGGGCAGCCTCTCCAACGCCAGC       c.3420
 S  P  N  P  S  P  A  S  S  V  G  S  Q  G  S  L  S  N  A  S         p.1140

          .         .         .         .         .         .       g.593194
 GCCCTGTCCCCGTCGACCATCGTCAGCATCCCACAGCGCATCCACCAGATGGCGGCCAAC       c.3480
 A  L  S  P  S  T  I  V  S  I  P  Q  R  I  H  Q  M  A  A  N         p.1160

          .         .         .         .         .         .       g.593254
 CACGTCAGCATCACCAACAGCATCCTGCACAGCTACGACTACTGGGAGATGGCCGACAAC       c.3540
 H  V  S  I  T  N  S  I  L  H  S  Y  D  Y  W  E  M  A  D  N         p.1180

          .          | 24        .         .         .         .    g.596029
 CTGGCCAAGGAAAACCGAG | AATTCTTCAACGACCTGGATCTGCTCATGGGGCCGGTCACC    c.3600
 L  A  K  E  N  R  E |   F  F  N  D  L  D  L  L  M  G  P  V  T      p.1200

          .         .         .         .         .         .       g.596089
 CTGCACAGCAGCATGGAGCACCTGGTCCAGTACTCCCAACAGGGCCTGCACTGGCTGCGG       c.3660
 L  H  S  S  M  E  H  L  V  Q  Y  S  Q  Q  G  L  H  W  L  R         p.1220

          .         .                                               g.596110
 AACAGCGCCCACCTGTCATAG                                              c.3681
 N  S  A  H  L  S  X                                                p.1226

          .         .         .         .         .         .       g.596170
 ggacctcaccctggggccagagtgggctctggtctccacagatggctcaacgtttttgga       c.*60

          .         .         .         .         .         .       g.596230
 cactgtgctactgaaactcccagccacagcatttatcagactgcggtgaacatttcctca       c.*120

          .         .         .         .         .         .       g.596290
 gcattgaacaatgatcttttgcagggcatgtgtgtttgtatgtgtgggtatataagaagc       c.*180

          .         .         .         .         .         .       g.596350
 cgcctgtgtatgtgtgtaagatacacagctcttcagaacacaccttctttgtctagtttc       c.*240

          .         .         .         .         .         .       g.596410
 cataatcccaggctagacaaagtgatcagaggtttctgactagaggaagtacacacacac       c.*300

          .         .         .         .         .         .       g.596470
 acacacacacacacacacaccgtacactcacacacaatcacagacacacactttctattc       c.*360

          .         .         .         .         .         .       g.596530
 cattccagtgctaaaccgtgacttcttagaaaattcaaccaaaatctcatgggttagtta       c.*420

          .         .         .         .         .         .       g.596590
 accaggtgcaatacagcacaccaaaagcttgactgccagtgaagatggacctgctcttat       c.*480

          .         .         .         .         .         .       g.596650
 actgttgattactttcagtattaatatactattccccaattattttttgattggtatgta       c.*540

          .         .         .         .         .         .       g.596710
 ttaatgggtaattgaataatgaaaataagccaggtatttttgtgccggaagtttactaga       c.*600

          .         .         .         .         .         .       g.596770
 ttgcatgttaccaaataccctgctcttcctctaattcccttcccccatctgactctatta       c.*660

          .         .         .         .         .         .       g.596830
 tcaactaaatgcattccaggcaaacagatggacactcacagcccttcccagccccacctc       c.*720

          .         .         .         .         .         .       g.596890
 caagtagtatgcaaatggcactgagatttagcaaaaacgcggcgtctttgaaagttaaca       c.*780

          .         .         .         .         .         .       g.596950
 gacactaaggtagcagtgcctgtgtgttggagctcagttaggagttgaagttttctgcac       c.*840

          .         .         .         .         .         .       g.597010
 ctgtgataacaagcccaccagccacatgcatttcttcttcctgccactgtgactcggtgg       c.*900

          .         .         .         .         .         .       g.597070
 ctgtagagccacatggcatttgtcagccaatctgtttcaagtcttttctttccaccaata       c.*960

          .         .         .         .         .         .       g.597130
 gctttcttacagattttcttggctaaatgaggccattacctagattgtcccttcagtagg       c.*1020

          .         .         .         .         .         .       g.597190
 agcctgaatccttcgcttaccaggctgagagctatttgccatgataatgctgattctctc       c.*1080

          .         .         .         .         .         .       g.597250
 actcctcatgcagaatgtgcacctgcagccctttgatgcgttttgatttgggggcgattt       c.*1140

          .         .         .         .         .         .       g.597310
 ttcaggctttgattagcaggctgcttgcaatgcagaagatcacagttcctttctggggca       c.*1200

          .         .         .         .         .         .       g.597370
 gcagcaaccagagcctcttcctgtgtcctgtgtgtctggtatgtttacaccttgctctga       c.*1260

          .         .         .         .         .         .       g.597430
 gtttttctcttgttttctttttttaattaagtttacattttagtttctttgacatcttgt       c.*1320

          .         .         .         .         .         .       g.597490
 ttacagtttttgtctgatgttttttcttttgtagtgtcttatgccctagatttagtcatc       c.*1380

          .         .         .         .         .         .       g.597550
 ttgttaaatatatttggatatgaaatcttgacgaaaagaaaataactcctgaaaaagagg       c.*1440

          .         .         .         .         .         .       g.597610
 gtctatcttgccacacgttaaaaacaaaaataatgtccttgtggcctcttacttgataaa       c.*1500

          .         .         .         .         .         .       g.597670
 gttgcaccaggacggtctgagaaaggcaggcggtgtaatatgtggtgcaatccatttttt       c.*1560

          .         .         .         .         .         .       g.597730
 caaggtgatgacggcacaaaatacttagactagatgctgatccataaacattcactgata       c.*1620

          .         .         .         .         .         .       g.597790
 ttcttacaggttggtttgcagtgttaacatttttgttagcctgatctgtaggtgggaagt       c.*1680

          .         .         .         .         .         .       g.597850
 aagatcatcataattccttagctctgagcactgattcaaaattgtataaatgactgaaca       c.*1740

          .         .         .         .         .         .       g.597910
 acttagatgatttgaaattaattgaaaataagaagggcttgtggaatttgcatttggctt       c.*1800

          .         .         .         .         .         .       g.597970
 tggccttcaagcatttggaaatattaagagaatttccattttacatgtctccaactgggg       c.*1860

          .         .         .         .         .         .       g.598030
 tgcttcttacaaccctttcactttttttttgagacgagtttcgctctgttgcccaggctg       c.*1920

          .         .         .         .         .         .       g.598090
 gagtgcagtggcacgatctcggctcactgcatcctctgcctcctgggttcaagtgattgt       c.*1980

          .         .         .         .         .         .       g.598150
 cccgcctcagcctcccaagtagctgggattacaggtgtgcactaccatgcccagctaatt       c.*2040

          .         .         .         .         .         .       g.598210
 tttgtgtttttagtagagactgggtttcaccatgttggccaggctcgtctcaaactcctg       c.*2100

          .         .         .         .         .         .       g.598270
 acctcaggtgatctacccgcctccacctcccaaagtgttgtgattacaggcgtgagccac       c.*2160

          .         .         .         .         .         .       g.598330
 cacacccagccctttcactaatttttggcagagttcacaatcccatcctatgtcagaaac       c.*2220

          .         .         .         .         .         .       g.598390
 ttgaacctaacttaagaaattttgagtcatttttttggaggactgaggctttgttctacc       c.*2280

          .         .         .         .         .         .       g.598450
 tactcttgaagaatcctgatgaaatattcaaacacataaagggatggccctggaggtcta       c.*2340

          .         .         .         .         .         .       g.598510
 tcctgcatacctggagagcttctctggtcctgcccaccttgaaagttgcagactttgttg       c.*2400

          .         .         .         .         .         .       g.598570
 taacatctatgtgatgagcttccctgtgaagccccatttgacaggtgggccagcagtgtt       c.*2460

          .         .         .         .         .         .       g.598630
 ttatcagcactctgatggcccacatttcccaggaaaacttcttgaaacttaccgttgtgg       c.*2520

          .         .         .         .         .         .       g.598690
 gcagtggtcagagcgtgtagttcttatgactgtcttgtttcatctgtggagcacgtgtgg       c.*2580

          .         .         .         .         .         .       g.598750
 agcacgttggtacagcagtttctgtggggtttggcatgggtgattttggttagtaaccat       c.*2640

          .         .         .         .         .         .       g.598810
 cctccaattgttgcttgtgaaagtcattcataacttgttccttttacttagttttgttgt       c.*2700

          .         .         .         .         .         .       g.598870
 tactgctgttgttgttggtttggttggttttgagaccgggtctggctctgtagcccaagc       c.*2760

          .         .         .         .         .         .       g.598930
 tggaatgcggtggcgcgatcatggctccctgcagcctcaaactcctgggctcaagcaatc       c.*2820

          .         .         .         .         .         .       g.598990
 ctcctgcctcagcctcccaagcagctgggaagataggcacgtgccaccacacccggctaa       c.*2880

          .         .         .         .         .         .       g.599050
 ttttttctttattttttttgtagagatgggggtctcactatgttgcccaggctggtctca       c.*2940

          .         .         .         .         .         .       g.599110
 aactcctgggctcaagcgatcctttggcctcggcctcccaaagtgcatgagccaccatgc       c.*3000

          .         .         .         .         .         .       g.599170
 ctggcctgtttagttttgtttcaagttgaaatacctttcttgtgttttctaattagaaaa       c.*3060

          .         .         .         .         .         .       g.599230
 gtaatatctactcattgtaaaaactcaaacagtgcagaaatgtagaaagtagaaagtgta       c.*3120

          .         .         .         .         .         .       g.599290
 agtccctggttgtcccttctgcctgagacaaccactgctcacagtttgatgtatatcctt       c.*3180

          .         .         .         .         .         .       g.599350
 ccagagactctcaaatttaagcaaataatttttattaccatgtctttttatttgaagacg       c.*3240

          .         .         .         .         .         .       g.599410
 tacatttgcctccaaagttcaacacaagttcaactgaccatatccttccatgacctgaat       c.*3300

          .         .         .         .         .         .       g.599470
 agatgctatcctttatcacgatgttcaattgcctttgaaagagagtagtccaggtatatt       c.*3360

          .         .         .         .         .         .       g.599530
 cctgatcaaaatttggcatttttgatgatactactctacacagatcagactcatgtgcag       c.*3420

          .         .         .         .         .         .       g.599590
 aatcgtgcctggagagagaggtttggttaagacagagatttctggaaacattcaaattgc       c.*3480

          .         .         .         .         .         .       g.599650
 aaatggaaacttgaaacccacaatctaatgaggaatgtactggaaaaataatctgaagag       c.*3540

          .         .         .         .         .         .       g.599710
 ttgacaaattgtgtactagattgaacacatggaatgcaatgcaatgagactttctgcact       c.*3600

          .         .         .         .         .         .       g.599770
 aaaacttatcctcatatgtacaacaatgatgtgtgtattatataacagtgatgtgtacat       c.*3660

          .         .         .         .         .         .       g.599830
 ttctgacaccccatacataatatacacagtttgtataaatgcatacatttaaaaatatat       c.*3720

          .         .         .         .         .         .       g.599890
 atgtacaatacagctaacataaaactgtagtacgcctgaaggatattactagtgcctaat       c.*3780

          .         .         .         .         .         .       g.599950
 attgagtatgagtcactgcgtgttcgcatcaacttggaagtgcagtaattgttataaaat       c.*3840

          .         .         .         .         .         .       g.600010
 taatcagtgcagccaacattatttatgaatcacatctttgaaactgtgcagtagcatata       c.*3900

          .         .         .         .         .         .       g.600070
 catatatatttttaaataacatttttcacagttttccagagttactgttgaaatctgcat       c.*3960

          .         .         .         .         .         .       g.600130
 caccaaaaaaaaaaaaaagcaagatttttttaacaatgtagacactcttcagacccagta       c.*4020

          .         .         .         .         .         .       g.600190
 atctgcgtgtgatttcctatttgtagattcccaagagactttagcagtcaccagccttaa       c.*4080

          .         .         .         .         .         .       g.600250
 tgcatgtacaggatattattgtgacttaatttatctgcagtttttaatccatgtgaaatt       c.*4140

          .         .         .         .         .         .       g.600310
 ggaatttataaacggacttggattaaacatgtctgcctttctaaggttgcaaatgttaca       c.*4200

          .         .                                               g.600331
 ttaaatgatttatgttgtaaa                                              c.*4221

 (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 AF4/FMR2 family, member 3 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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