(used for variant description)
(last modified June 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001098484.2 in the SLC4A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012653.1, covering SLC4A4 transcript NM_001098484.2.
(upstream sequence)
. . . . . g.5057
gcggcggcggccgcggtggcagcgaaggcggcggcggcggcggcagtggcagtggcc c.-61
. . . . . . | 02 g.54291
gctgcagccccacactccgccgccaaactggaggagcgacggaagccagaccccaggag | g c.-1
. . . . . . g.54351
ATGGAGGATGAAGCTGTCCTGGACAGAGGGGCTTCCTTCCTCAAGCATGTGTGTGATGAA c.60
M E D E A V L D R G A S F L K H V C D E p.20
. | 03 . . . . . g.72981
GAAGAAGTAGAAG | GCCACCATACCATTTACATCGGAGTCCATGTGCCGAAGAGTTACAGG c.120
E E V E G | H H T I Y I G V H V P K S Y R p.40
. . . . . . g.73041
AGAAGGAGACGTCACAAGAGAAAGACAGGGCACAAAGAAAAGAAGGAAAAGGAGAGAATC c.180
R R R R H K R K T G H K E K K E K E R I p.60
. . . . . . g.73101
TCTGAGAACTACTCTGACAAATCAGATATTGAAAATGCTGATGAATCCAGCAGCAGCATC c.240
S E N Y S D K S D I E N A D E S S S S I p.80
. | 04 . . . . . g.157131
CTAAAACCTCTCA | TCTCTCCTGCTGCAGAACGCATCCGATTCATCTTGGGAGAGGAGGAT c.300
L K P L I | S P A A E R I R F I L G E E D p.100
. . . . . . g.157191
GACAGCCCAGCTCCCCCTCAGCTCTTCACGGAACTGGATGAGCTGCTGGCCGTGGATGGG c.360
D S P A P P Q L F T E L D E L L A V D G p.120
. . | 05 . . . g.167657
CAGGAGATGGAGTGGAAGGAAACAGCCAG | GTGGATCAAGTTTGAAGAAAAAGTGGAACAG c.420
Q E M E W K E T A R | W I K F E E K V E Q p.140
. . . . . . g.167717
GGTGGGGAAAGATGGAGCAAGCCCCATGTGGCCACATTGTCCCTTCATAGTTTATTTGAG c.480
G G E R W S K P H V A T L S L H S L F E p.160
. . . . . . g.167777
CTGAGGACATGTATGGAGAAAGGATCCATCATGCTTGATCGGGAGGCTTCTTCTCTCCCA c.540
L R T C M E K G S I M L D R E A S S L P p.180
. | 06 . . . . . g.174772
CAGTTGGTGG | AGATGATTGTTGACCATCAGATTGAGACAGGCCTATTGAAACCTGAACTT c.600
Q L V E | M I V D H Q I E T G L L K P E L p.200
. . . . . . g.174832
AAGGATAAGGTGACCTATACTTTGCTCCGGAAGCACCGGCATCAAACCAAGAAATCCAAC c.660
K D K V T Y T L L R K H R H Q T K K S N p.220
. . . . . . g.174892
CTTCGGTCCCTGGCTGACATTGGGAAGACAGTCTCCAGTGCAAGTAGGATGTTTACCAAC c.720
L R S L A D I G K T V S S A S R M F T N p.240
. | 07 . . . . . g.215341
CCTGATAATG | GTAGCCCAGCCATGACCCATAGGAATCTGACTTCCTCCAGTCTGAATGAC c.780
P D N G | S P A M T H R N L T S S S L N D p.260
. . | 08. . . . g.258363
ATTTCTGATAAACCGGAGAAGGACCAG | CTGAAGAATAAGTTCATGAAAAAATTGCCACGT c.840
I S D K P E K D Q | L K N K F M K K L P R p.280
. . . . . . g.258423
GATGCAGAAGCTTCCAACGTGCTTGTTGGGGAGGTTGACTTTTTGGATACTCCTTTCATT c.900
D A E A S N V L V G E V D F L D T P F I p.300
. . . . . . g.258483
GCCTTTGTTAGGCTACAGCAGGCTGTCATGCTGGGTGCCCTGACTGAAGTTCCTGTGCCC c.960
A F V R L Q Q A V M L G A L T E V P V P p.320
| 09 . . . . . . g.265415
ACAAG | GTTCTTGTTCATTCTCTTAGGTCCTAAGGGGAAAGCCAAGTCCTACCACGAGATT c.1020
T R | F L F I L L G P K G K A K S Y H E I p.340
. . . | 10 . . . g.268130
GGCAGAGCCATTGCCACCCTGATGTCTGATGAG | GTGTTCCATGACATTGCTTATAAAGCA c.1080
G R A I A T L M S D E | V F H D I A Y K A p.360
. . . . . . g.268190
AAAGACAGGCACGACCTGATTGCTGGTATTGATGAGTTCCTAGATGAAGTCATCGTCCTT c.1140
K D R H D L I A G I D E F L D E V I V L p.380
. . . . . . g.268250
CCACCTGGGGAATGGGATCCAGCAATTAGGATAGAGCCTCCTAAGAGTCTTCCATCCTCT c.1200
P P G E W D P A I R I E P P K S L P S S p.400
| 11 . . . . . g.268954
GACAAAAG | AAAGAATATGTACTCAGGTGGAGAGAATGTTCAGATGAATGGGGATACGCCC c.1260
D K R | K N M Y S G G E N V Q M N G D T P p.420
. . . . . . g.269014
CATGATGGAGGTCACGGAGGAGGAGGACATGGGGATTGTGAAGAATTGCAGCGAACTGGA c.1320
H D G G H G G G G H G D C E E L Q R T G p.440
| 12 . . . . . . g.271267
CG | GTTCTGTGGTGGACTAATTAAAGACATAAAGAGGAAAGCGCCATTTTTTGCCAGTGAT c.1380
R | F C G G L I K D I K R K A P F F A S D p.460
. . . . . . g.271327
TTTTATGATGCTTTAAATATTCAAGCTCTTTCGGCAATTCTCTTCATTTATCTGGCAACT c.1440
F Y D A L N I Q A L S A I L F I Y L A T p.480
. . . . . | 13. g.284161
GTAACTAATGCTATCACTTTTGGAGGACTGCTTGGGGATGCCACTGACAACATGCAG | GGC c.1500
V T N A I T F G G L L G D A T D N M Q | G p.500
. . . . . . g.284221
GTGTTGGAGAGTTTCCTGGGCACTGCTGTCTCTGGAGCCATCTTTTGCCTTTTTGCTGGT c.1560
V L E S F L G T A V S G A I F C L F A G p.520
. . . . . . g.284281
CAACCACTCACTATTCTGAGCAGCACCGGACCTGTCCTAGTTTTTGAGAGGCTTCTATTT c.1620
Q P L T I L S S T G P V L V F E R L L F p.540
. | 14 . . . . . g.290462
AATTTCAGCAA | GGACAATAATTTTGACTATTTGGAGTTTCGCCTTTGGATTGGCCTGTGG c.1680
N F S K | D N N F D Y L E F R L W I G L W p.560
. . . . . . g.290522
TCCGCCTTCCTATGTCTCATTTTGGTAGCCACTGATGCCAGCTTCTTGGTTCAATACTTC c.1740
S A F L C L I L V A T D A S F L V Q Y F p.580
. . . . . . g.290582
ACACGTTTCACGGAGGAGGGCTTTTCCTCTCTGATTAGCTTCATCTTTATCTATGATGCT c.1800
T R F T E E G F S S L I S F I F I Y D A p.600
. . . . . . g.290642
TTCAAGAAGATGATCAAGCTTGCAGATTACTACCCCATCAACTCCAACTTCAAAGTGGGC c.1860
F K K M I K L A D Y Y P I N S N F K V G p.620
. . . . | 15 . . g.304679
TACAACACTCTCTTTTCCTGTACCTGTGTGCCACCTGACCCAG | CTAATATCTCAATATCT c.1920
Y N T L F S C T C V P P D P A | N I S I S p.640
. . . . . | 16 . g.315221
AATGACACCACACTGGCCCCAGAGTATTTGCCAACTATGTCTTCTACTGACATG | TACCAT c.1980
N D T T L A P E Y L P T M S S T D M | Y H p.660
. . . . . . g.315281
AATACTACCTTTGACTGGGCATTTTTGTCGAAGAAGGAGTGTTCAAAATACGGAGGAAAC c.2040
N T T F D W A F L S K K E C S K Y G G N p.680
. . . . . . g.315341
CTCGTCGGGAACAACTGTAATTTTGTTCCTGATATCACACTCATGTCTTTTATCCTCTTC c.2100
L V G N N C N F V P D I T L M S F I L F p.700
. . . . . . g.315401
TTGGGAACCTACACCTCTTCCATGGCTCTGAAAAAATTCAAAACTAGTCCTTATTTTCCA c.2160
L G T Y T S S M A L K K F K T S P Y F P p.720
| 17 . . . . . . g.349830
ACCACA | GCAAGAAAACTGATCAGTGATTTTGCCATTATCTTGTCCATTCTCATCTTTTGT c.2220
T T | A R K L I S D F A I I L S I L I F C p.740
. . . . . . g.349890
GTAATAGATGCCCTAGTAGGCGTGGACACCCCAAAACTAATTGTGCCAAGTGAGTTCAAG c.2280
V I D A L V G V D T P K L I V P S E F K p.760
| 18 . . . . . . g.352001
| CCAACAAGTCCAAACCGAGGTTGGTTCGTTCCACCGTTTGGAGAAAACCCCTGGTGGGTG c.2340
| P T S P N R G W F V P P F G E N P W W V p.780
. . . . . . g.352061
TGCCTTGCTGCTGCTATCCCGGCTTTGTTGGTCACTATACTGATTTTCATGGACCAACAA c.2400
C L A A A I P A L L V T I L I F M D Q Q p.800
. . . . | 19 . . g.364082
ATTACAGCTGTGATTGTAAACAGGAAAGAACATAAACTCAAG | AAAGGAGCAGGGTATCAC c.2460
I T A V I V N R K E H K L K | K G A G Y H p.820
. . . . . . g.364142
TTGGATCTCTTTTGGGTGGCCATCCTCATGGTTATATGCTCCCTCATGGCTCTTCCGTGG c.2520
L D L F W V A I L M V I C S L M A L P W p.840
. . . . . . g.364202
TATGTAGCTGCTACGGTCATCTCCATTGCTCACATCGACAGTTTGAAGATGGAGACAGAG c.2580
Y V A A T V I S I A H I D S L K M E T E p.860
. . . . | 20 . . g.365381
ACTTCTGCACCTGGAGAACAACCAAAGTTTCTAGGAGTGAG | GGAACAAAGAGTCACTGGA c.2640
T S A P G E Q P K F L G V R | E Q R V T G p.880
. . . . . | 21 . g.372860
ACCCTTGTGTTTATTCTGACTGGTCTGTCAGTCTTTATGGCTCCCATCTTGAAG | TTTATA c.2700
T L V F I L T G L S V F M A P I L K | F I p.900
. . . . . . g.372920
CCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTG c.2760
P M P V L Y G V F L Y M G V A S L N G V p.920
| 22 . . . . . . g.375483
CAG | TTCATGGATCGTCTGAAGCTGCTTCTGATGCCTCTGAAGCATCAGCCTGACTTCATC c.2820
Q | F M D R L K L L L M P L K H Q P D F I p.940
. . . . . . g.375543
TACCTGCGTCATGTTCCTCTGCGCAGAGTCCACCTGTTCACTTTCCTGCAGGTGTTGTGT c.2880
Y L R H V P L R R V H L F T F L Q V L C p.960
. . . . . | 23. g.377810
CTGGCCCTGCTTTGGATCCTCAAGTCAACGGTGGCTGCTATCATTTTTCCAGTAATG | ATC c.2940
L A L L W I L K S T V A A I I F P V M | I p.980
. . . . . . g.377870
TTGGCACTTGTAGCTGTCAGAAAAGGCATGGACTACCTCTTCTCCCAGCATGACCTCAGC c.3000
L A L V A V R K G M D Y L F S Q H D L S p.1000
. . . . . . g.377930
TTCCTGGATGATGTCATTCCAGAAAAGGACAAGAAAAAGAAGGAGGATGAGAAGAAAAAG c.3060
F L D D V I P E K D K K K K E D E K K K p.1020
. . . | 24 . . g.381528
AAAAAGAAGAAGGGAAGTCTGGACAGTGACAATGATGAT | TCTGACTGCCCATACTCAGAA c.3120
K K K K G S L D S D N D D | S D C P Y S E p.1040
. . . . . . g.381588
AAAGTTCCAAGTATTAAAATTCCAATGGACATCATGGAACAGCAACCTTTCCTAAGCGAT c.3180
K V P S I K I P M D I M E Q Q P F L S D p.1060
. | 25 . . . . . g.384762
AGCAAACCTTCTGACA | GAGAAAGATCACCAACATTCCTTGAACGCCACACATCATGCTGA c.3240
S K P S D R | E R S P T F L E R H T S C X p.1079
. . . | 26 . . . g.385526
taaaattcctttccttcagtcactcggtatgccaag | tcctcctagaactccagtaaaagt c.*60
. . . . . . g.385586
tgtgcctcaaattagaatagaacttgaacctgaagacaatgattatttctggaggagcaa c.*120
. . . . . . g.385646
gggaacagaaactacattgtaacctgtttgtctttcttaaaactgacatttgttgttaat c.*180
. . . . . . g.385706
gtcatttgtttttgtttggctgtttgtttattttttaacttttatttcgtctcagttttt c.*240
. . . . . . g.385766
ggtcacaggccaaataatacagcgctctctctgcttctctcttgcatagatacaatcaag c.*300
. . . . . . g.385826
acaatagtgcaccgttccttaaaaacagcatctgaggaatcccccttttgttcttaaact c.*360
. . . . . . g.385886
ttcagatgtgtcctttgataaccaaattctgtcactcaagacacagacacgcacagaccc c.*420
. . . . . . g.385946
tgtcctttgcctctattaagcagaggatggaagtattaaggattttgtaacaccttttat c.*480
. . . . . . g.386006
gaaaatgttgaaggaacttaaaactttagctttggagctgtgcttactggcttgtctttg c.*540
. . . . . . g.386066
tctggtagaacaaaccttgacctccagacagagtcccttctcacttatagagctctccag c.*600
. . . . . . g.386126
gactggaaaaagtgctgctattttaacttgctcttgcttgtaaatcctaatcttagagtt c.*660
. . . . . . g.386186
atcaaaagaagaaaaaactgaaggtactttactccctatagagaaaccattgccatcatt c.*720
. . . . . . g.386246
gtagcaagtgctggaatgtcccttttttcctatgcaactttttttaaccctttaatgaac c.*780
. . . . . . g.386306
ttatctgttgagtacattgaagaatatttttcttcctagattttgttgtttaaattatgg c.*840
. . . . . . g.386366
ggcctaacctgccacttattttttgtcaatttttaaaacttttttttaattactgtaaag c.*900
. . . . . . g.386426
aaaatgaattttttcctgcagcaggaaacatagttttgagtagttctacctcttatttgt c.*960
. . . . . . g.386486
agctgccaggctttctgtaaaaattgtattgtatataatgtgatttttacacatacatac c.*1020
. . . . . . g.386546
acacacaaatacacaatctctagggtaagccagaaggcaagatcagattaaaaacaccat c.*1080
. . . . . . g.386606
gtttctaagcatccatttttccctttctttaaaagaaacttaactgttctatgaaggaga c.*1140
. . . . . . g.386666
ttgagggagaagagacaaactcctatgtcatgagaataaccgatgttctgataatagtag c.*1200
. . . . . . g.386726
catctaggtacagatgctggttgtattaccacgtcaatgtcctatgcagtattgttagac c.*1260
. . . . . . g.386786
attttctcattttgaaatatttgtgtgtttgtgtatgtgctctgtgccatggctggtgta c.*1320
. . . . . . g.386846
tatatgtgcaatgttagaaggcaaaagagtgatggtaggcagagggcaaagtcattgaat c.*1380
. . . . . . g.386906
ctcttatgccagttttcataaaacccaaaccacatatgaaaaaatccattaagggtccaa c.*1440
. . . . . . g.386966
gaagtctgtccatatgaaaatgagggtaaatatagtttatttcccaggtatcagtcatta c.*1500
. . . . . . g.387026
taattgatataatagctctaacatgcaatataaaattcataggagtattaatagcccatt c.*1560
. . . . . . g.387086
tacacatctataaaatgtaatgggattgcagagctgcagagtacagtgtaacagtactct c.*1620
. . . . . . g.387146
catgcaatttttttcaggatgcaaaggcaattattctttgtaagcgggacatttagaata c.*1680
. . . . . . g.387206
tatttgtgtacatattatatgtatgtatatttcaaagtaccacactgaaaattagacatt c.*1740
. . . . . . g.387266
tattaaccaaatttaacgtggtatttaaaggtaatatttttaatatgatacattacatat c.*1800
. . . . . . g.387326
tgtgaatgtatactaaaaaaacattttaaatgttaaaattataatttcagattcatataa c.*1860
. . . . . . g.387386
ccacaactgtgatatatcctaactataaccagttgttgaggggtatactagaagcagaat c.*1920
. . . . . . g.387446
gaaaccacattttttggtttgataatatgcacttattgactcccactcattgttatgtta c.*1980
. . . . . . g.387506
attaagttattattctgtctccttgtaattttgattacaaaaattttattatcctgagtt c.*2040
. . . . . . g.387566
agctgttacttttacagtacctgatactcctaaaacttttaacttatacaaattagtcaa c.*2100
. . . . . . g.387626
taatgaccccaattttttcattaaaataatagtggtgaattatatgttattgtgttaaaa c.*2160
. . . . . . g.387686
cctcacttgccaaattctggcttcacatttgtatttagggctatccttaaaatgatgagt c.*2220
. . . . . . g.387746
ctatattatctagctttctattaccctaatataaactggtataagaagactttccttttt c.*2280
. . . . . . g.387806
tctttatgcatggaagcatcaataaattgtttaaaaaccatgtatagtaaattcagctta c.*2340
. . . . . . g.387866
acccgtgatcttcttaagttaaaggtacttttgttttataaaagctctagataaaacttt c.*2400
. . . . . . g.387926
cttttctgatcatgaatcaagtatctgtggtttcatgcccctctctatacctttcaaaga c.*2460
. . . . . . g.387986
actcctgaagcaacttaactcatcatttcagcctctgagtagaggtaaaacctatgtgta c.*2520
. . . . . . g.388046
cttctgtttatgatccatattgatatttatgacatgaacacagaatagtaccttacattt c.*2580
. . . . . . g.388106
gctaaacagacagttaatatcaaatcctttcaatattctgggaacccagggaagttttta c.*2640
. . . . . . g.388166
aaaatgtcattactttcaaaggaacagaagtagttaaccaaactaacaagcaaaacctga c.*2700
. . . . . . g.388226
ggtttacctagtgacaccaaattatcggtattttaactgaatttacccattgactaagaa c.*2760
. . . . . . g.388286
tgaaccagatttggtggtggttttgtttctatgcaaactggacacaaattacaacagtaa c.*2820
. . . . . . g.388346
atttttttataagtgcttctcccttctccatgatgtgacttccggagataaaggattcaa c.*2880
. . . . . . g.388406
aagataaagacaaagtacgctcagagttgttaaccagaaagtcctggctgtggttgcaga c.*2940
. . . . . . g.388466
aacactgttggaagaaaagagatgactaagtcaagtgtctgccttatcaaaagagcaaaa c.*3000
. . . . . . g.388526
atgcctctggttttgtgtttgggagaaaaatatcttggacgcactgttttccttgataaa c.*3060
. . . . . . g.388586
agtcatcttctctactgtgtgaaatgaatacttggaattctaattgttttgtgtgccagg c.*3120
. . . . . . g.388646
ggcagtaatgtccctgcctcttctcccaatcaaggttgaggagtggggctggggagagga c.*3180
. . . . . . g.388706
cttaactgacttaagaagtaggaaaacaaaaacctctctcctcagccttccacctccaag c.*3240
. . . . . . g.388766
agaggaggaaaaacagttgtctgctgtctgtaattcagtttgcgtgtattttatgctcat c.*3300
. . . . . . g.388826
gcaccaacccatacagagtaaatcttttatcaactatatactggtgtttaatagagaatg c.*3360
. . . . . . g.388886
attgtcttccgagttttttggttccttttttaactgtgttaaagtacttgaaatgtattg c.*3420
. . . . . . g.388946
actgctgactatattttaaaaacaaaatgaaataatttgagttgtattacagaggttgac c.*3480
. . . . . . g.389006
attgttcagggatgggacaaagccttcttcaatccttttcatactacttaatgattttgg c.*3540
. . . . . . g.389066
tgcaggaacctgagattttctgatttatatttcatgatatttcacatttgctcttcacag c.*3600
. . . . . . g.389126
catgagcatgaagcccagtggcaccaaatggctgggtacaatcaagtgatattttgtagc c.*3660
. . . . . . g.389186
acctcactatctgaaaggccatgagttttcagatgatttcattgagcttcattgcagcct c.*3720
. . . . . . g.389246
gaaattttaaaaaagttgtgtaatacgccaaccagtcaagttgtgttttggccagagatt c.*3780
. . . . . . g.389306
tagatatgtccaatttcctggctcatttcattgtgctctatgggtacgtataaaaagcaa c.*3840
. . . . . . g.389366
gaattctgtttcctaggcaaacattgcaactcagggctaaagtcatccagtgaaactttt c.*3900
. . . . . . g.389426
agagccagaagtaactttgtcccagtcctacaatgtgaaaagagtgaatagttgcctctt c.*3960
. . . . . . g.389486
tttagccattttcatggctggtacatattcgtacgcattacttttcagaatcaatacgca c.*4020
. . . . . . g.389546
ctttcagatattcttatttttattctcttaagtctttattaactttggagagagaaatga c.*4080
. . . . . . g.389606
tgcatctttttattttaaatgaagtagatcaacatggtggaacaaaatgataaagaacag c.*4140
. . . . . . g.389666
aaaacatttcaatatattactaataactttttccaatataaatcctaaaattcctataac c.*4200
. . . . . . g.389726
atagtattttacagttttatgaagctttctattgtgacttttatggaattaagagatgaa c.*4260
. . . . . . g.389786
gaagatgagatattttagcatttatatttttcaaaattatatgtatacttaaaaataaag c.*4320
. g.389802
taactttatgcattta c.*4336
(downstream sequence)
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