(used for variant description)
(last modified September 5, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000441.1 in the SLC26A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008489.1, covering SLC26A4 transcript NM_000441.1.
(upstream sequence)
. . . . g.5044
ctcagccttcccggttcgggaaaggggaagaatgcaggaggggt c.-181
. . . . . . g.5104
aggatttctttcctgataggatcggttgggaaagaccgcagcctgtgtgtgtctttccct c.-121
. . . . . . g.5164
tcgaccaaggtgtctgttgctccgtaaataaaacgtcccactgccttctgagagcgctat c.-61
. . . . . . | 02 g.6007
aaaggcagcggaagggtagtccgcggggcattccgggcggggcgcgagcagagacag | gtc c.-1
. . . . . . g.6067
ATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAGTACAGCTGCAGCTAC c.60
M A A P G G R S E P P Q L P E Y S C S Y p.20
. . . . . . g.6127
ATGGTGTCGCGGCCGGTCTACAGCGAGCTCGCTTTCCAGCAACAGCACGAGCGGCGCCTG c.120
M V S R P V Y S E L A F Q Q Q H E R R L p.40
. . . . | 03 . . g.7677
CAGGAGCGCAAGACGCTGCGGGAGAGCCTGGCCAAGTGCTGCAG | TTGTTCAAGAAAGAGA c.180
Q E R K T L R E S L A K C C S | C S R K R p.60
. . . . . . g.7737
GCCTTTGGTGTGCTAAAGACTCTTGTGCCCATCTTGGAGTGGCTCCCCAAATACCGAGTC c.240
A F G V L K T L V P I L E W L P K Y R V p.80
. . . . . . g.7797
AAGGAATGGCTGCTTAGTGACGTCATTTCGGGAGTTAGTACTGGGCTAGTGGCCACGCTG c.300
K E W L L S D V I S G V S T G L V A T L p.100
| 04 . . . . . . g.16559
CAAG | GGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCT c.360
Q G | M A Y A L L A A V P V G Y G L Y S A p.120
. . . . . | 05 . g.18534
TTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTG | GACCT c.420
F F P I L T Y F I F G T S R H I S V G | P p.140
. . . . . . g.18594
TTTCCAGTGGTGAGTTTAATGGTGGGATCTGTTGTTCTGAGCATGGCCCCCGACGAACAC c.480
F P V V S L M V G S V V L S M A P D E H p.160
. . . . . . g.18654
TTTCTCGTATCCAGCAGCAATGGAACTGTATTAAATACTACTATGATAGACACTGCAGCT c.540
F L V S S S N G T V L N T T M I D T A A p.180
. . . . . . g.18714
AGAGATACAGCTAGAGTCCTGATTGCCAGTGCCCTGACTCTGCTGGTTGGAATTATACAG c.600
R D T A R V L I A S A L T L L V G I I Q p.200
| 06 . . . . . . g.19370
| TTGATATTTGGTGGCTTGCAGATTGGATTCATAGTGAGGTACTTGGCAGATCCTTTGGTT c.660
| L I F G G L Q I G F I V R Y L A D P L V p.220
. . . . . . g.19430
GGTGGCTTCACAACAGCTGCTGCCTTCCAAGTGCTGGTCTCACAGCTAAAGATTGTCCTC c.720
G G F T T A A A F Q V L V S Q L K I V L p.240
. . . . | 07 . . g.27582
AATGTTTCAACCAAAAACTACAATGGAGTTCTCTCTATTATCTAT | ACGCTGGTTGAGATT c.780
N V S T K N Y N G V L S I I Y | T L V E I p.260
. . . . . . g.27642
TTTCAAAATATTGGTGATACCAATCTTGCTGATTTCACTGCTGGATTGCTCACCATTGTC c.840
F Q N I G D T N L A D F T A G L L T I V p.280
. . . . . . g.27702
GTCTGTATGGCAGTTAAGGAATTAAATGATCGGTTTAGACACAAAATCCCAGTCCCTATT c.900
V C M A V K E L N D R F R H K I P V P I p.300
. | 08 . . . . g.27862
CCTATAGAAGTAATTGTG | ACGATAATTGCTACTGCCATTTCATATGGAGCCAACCTGGAA c.960
P I E V I V | T I I A T A I S Y G A N L E p.320
. . . . | 09 . . g.33437
AAAAATTACAATGCTGGCATTGTTAAATCCATCCCAAGGGG | GTTTTTGCCTCCTGAACTT c.1020
K N Y N A G I V K S I P R G | F L P P E L p.340
. . . . . . g.33497
CCACCTGTGAGCTTGTTCTCGGAGATGCTGGCTGCATCATTTTCCATCGCTGTGGTGGCT c.1080
P P V S L F S E M L A A S F S I A V V A p.360
. . . . . . g.33557
TATGCTATTGCAGTGTCAGTAGGAAAAGTATATGCCACCAAGTATGATTACACCATCGAT c.1140
Y A I A V S V G K V Y A T K Y D Y T I D p.380
| 10 . . . . . g.34540
GGGAACCAG | GAATTCATTGCCTTTGGGATCAGCAACATCTTCTCAGGATTCTTCTCTTGT c.1200
G N Q | E F I A F G I S N I F S G F F S C p.400
. . . . . . g.34600
TTTGTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGAAAGACA c.1260
F V A T T A L S R T A V Q E S T G G K T p.420
| 11 . . . . . . g.38825
CAG | GTTGCTGGCATCATCTCTGCTGCGATTGTGATGATCGCCATTCTTGCCCTGGGGAAG c.1320
Q | V A G I I S A A I V M I A I L A L G K p.440
. . | 12 . . . . g.39025
CTTCTGGAACCCTTGCAGAAG | TCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGG c.1380
L L E P L Q K | S V L A A V V I A N L K G p.460
. . . . . | 13. g.40301
ATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCT | GTT c.1440
M F M Q L C D I P R L W R Q N K I D A | V p.480
. . . . . . g.40361
ATCTGGGTGTTTACGTGTATAGTGTCCATCATTCTGGGGCTGGATCTCGGTTTACTAGCT c.1500
I W V F T C I V S I I L G L D L G L L A p.500
. . . . | 14 . . g.42423
GGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTT | TCCTTCTTGGAATGGC c.1560
G L I F G L L T V V L R V Q F | P S W N G p.520
. . . . . | 15 . g.44454
CTTGGAAGCATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAAC | ATTGAA c.1620
L G S I P S T D I Y K S T K N Y K N | I E p.540
. . . . . . g.44514
GAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGAT c.1680
E P Q G V K I L R F S S P I F Y G N V D p.560
. . | 16. . . . g.45499
GGTTTTAAAAAATGTATCAAGTCCACA | GTTGGATTTGATGCCATTAGAGTATATAATAAG c.1740
G F K K C I K S T | V G F D A I R V Y N K p.580
. . . . . . g.45559
AGGCTGAAAGCGCTGAGGAAAATACAGAAACTAATAAAAAGTGGACAATTAAGAGCAACA c.1800
R L K A L R K I Q K L I K S G Q L R A T p.600
| 17 . . . . . . g.46249
AAG | AATGGCATCATAAGTGATGCTGTTTCAACAAATAATGCTTTTGAGCCTGATGAGGAT c.1860
K | N G I I S D A V S T N N A F E P D E D p.620
. . . . . . g.46309
ATTGAAGATCTGGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG c.1920
I E D L E E L D I P T K E I E I Q V D W p.640
. . . . . . g.46369
AACTCTGAGCTTCCAGTCAAAGTGAACGTTCCCAAAGTGCCAATCCATAGCCTTGTGCTT c.1980
N S E L P V K V N V P K V P I H S L V L p.660
. . . . . | 18 . g.48702
GACTGTGGAGCTATATCTTTCCTGGACGTTGTTGGAGTGAGATCACTGCGGGTG | ATTGTC c.2040
D C G A I S F L D V V G V R S L R V | I V p.680
. . . . | 19 . g.54430
AAAGAATTCCAAAGAATTGATGTGAATGTGTATTTTGCATCACTTCAAG | ATTATGTGATA c.2100
K E F Q R I D V N V Y F A S L Q D | Y V I p.700
. . . . . . g.54490
GAAAAGCTGGAGCAATGCGGGTTCTTTGACGACAACATTAGAAAGGACACATTCTTTTTG c.2160
E K L E Q C G F F D D N I R K D T F F L p.720
. . . . . . g.54550
ACGGTCCATGATGCTATACTCTATCTACAGAACCAAGTGAAATCTCAAGAGGGTCAAGGT c.2220
T V H D A I L Y L Q N Q V K S Q E G Q G p.740
. | 20 . . . . . g.56949
TCCATTTTAGAAACG | ATCACTCTCATTCAGGATTGTAAAGATACCCTTGAATTAATAGAA c.2280
S I L E T | I T L I Q D C K D T L E L I E p.760
. . . | 21 . . g.59809
ACAGAGCTGACGGAAGAAGAACTTGATGTCCAGGATGAG | GCTATGCGTACACTTGCATCC c.2340
T E L T E E E L D V Q D E | A M R T L A S p.780
g.59812
TGA c.2343
X p.780
. . . . . . g.59872
aagtgggttcgggaggtctctatgagcaaggaatacaagacaaaacttcctcaatgcatt c.*60
. . . . . . g.59932
gactatttcttcagactcaaaacactcattcttttttctattaagccattgaaagagaag c.*120
. . . . . . g.59992
cactaagactgcttctaggctttatttataaaataaacaccttatccctaacatgggcaa c.*180
. . . . . . g.60052
aatggctagaattattcagacgatttggcagcgtccagggtaagctggtgttataatacg c.*240
. . . . . . g.60112
ctgctgatctacatcacagatttgctaataatgttcacgtgggccctggcatatctctgt c.*300
. . . . . . g.60172
tcagttagagtgagtgctgacccaacagcctctgtggtcaagcgagtcacgaatgattaa c.*360
. . . . . . g.60232
tcataaagaaaaatcagtttttgactgacctggatatccatgagctgcactgatcaccat c.*420
. . . . . . g.60292
gtaaggtcacatttagtaaatgctgaaataaaatgattaatgcatttatcaataaaagcc c.*480
. . . . . . g.60352
tttgaaaatactttggataataaattggagttttaaaaatgcaaatttgcttagtatcta c.*540
. . . . . . g.60412
ataatgaagtgttattacatatagccggaattgaggatctctttgatcctggaaatggtt c.*600
. . . . . . g.60472
tacctaaaagctacagaaccaggccaatatattttgaaatattgatgcagacaaatgaaa c.*660
. . . . . . g.60532
taataaagagattttcatggtttataaaaatcttttttgatatgataataatcatgatca c.*720
. . . . . . g.60592
caactgagatcaaaaaaatatatgacagattattttgtttaaaaatgcagttttaattat c.*780
. . . . . . g.60652
cttagtctatagaaatgatcattgcatggaggcatgtataggtatgatctgtgtaaaatc c.*840
. . . . . . g.60712
tgacataaaaacagtgctattctgagtgaaaatttttttgatgtgcttacataaccatgg c.*900
. . . . . . g.60772
tgattaaaatgagtttatattttttctcaaaaattttagcagtgtgtaaagtaagtaatc c.*960
. . . . . . g.60832
tttaactgaactctgaccacttaaaaaaaaatctaaaaattgaactacctatagtagtct c.*1020
. . . . . . g.60892
gtgtttaaagtgaatttttaaagacaaagcattctaaatgaactcaatataaaaacattc c.*1080
. . . . . . g.60952
atttggaatgtacatactgaaaaatacaggtttttttgaccaaaagtttttatatctttt c.*1140
. . . . . . g.61012
ctttttatttatttttttcctaagtgccaacaattttctagatattatatacaacacagg c.*1200
. . . . . . g.61072
ctttgatcttggggacttttcccatatatttcacactggagtgaatgaagttgtacttca c.*1260
. . . . . . g.61132
tttctagagaaaagttatacccaggtccccaattgagaatgtcttgcttgattgaaaacg c.*1320
. . . . . . g.61192
acatcatcccttggtatactccagggattggtttcaggacccctgcatttaccaaaattt c.*1380
. . . . . . g.61252
gtgcacactcaagtcctgcagtcacccctgcctaaagatagaatggcttctctgtttttc c.*1440
. . . . . . g.61312
ttctgaaatacaaccagaaacaatgtgtctatttctgaaagaataggattaatgatcata c.*1500
. . . . . . g.61372
caaatgggttaatcctgaattctggttgtaaatctggttacagcataactaggattataa c.*1560
. . . . . . g.61432
tgctgcctcattttcacagcactacttgcttatattgacaacaaatcatctcgctaaaga c.*1620
. . . . . . g.61492
gtgaatgtaggccaggcgcggtggctcatgcctgtaatcccagcactttgggaggccgag c.*1680
. . . . . . g.61552
gcgggtggatcacgaggtcaggagatcgagaccatcctggctaacatggtaaaaccccgt c.*1740
. . . . . . g.61612
ctctactaaaaatagaaaaaaagaaattagcctagcgtggtggctggcgggcgcctgtag c.*1800
. . . . . . g.61672
tcccagctatttgggaggctaaggcaggagaatggcgtgaacccgggaggcggagcttgc c.*1860
. . . . . . g.61732
agtgagccgaggtcgtgccactgcactccagcctgggcgacagagcaagactccgtctca c.*1920
. . . . . . g.61792
aaaaaaaaaaaaaaaaaaaaaaaagagtgaatgtaatagtcttgcagaaaatgaatgaat c.*1980
. . . . . . g.61852
acctttgttcaataaaggaaatatgcactgctcacttttttgaaggaaatgccaaagtta c.*2040
. . . . . . g.61912
cgttttacaacaaggctagagtttgtaaattctgggttcatttgtgatgacataagtcag c.*2100
. . . . . . g.61972
caaactgcgggaatactgtctcttctatgtattttgtgaatagtaagcataattttagtt c.*2160
. . . . . . g.62032
ttgtattatcaatgaaaatttcacttgaaattaaagctgccttttgttatatttttaacc c.*2220
. . . . . . g.62092
tataggataagattccagtattgtatatgagttttaacaaattaaaaaatcaaatcatgt c.*2280
. . . . . . g.62152
acatttgaaaatatttgcacacatttaaaaataaatgtaaagttgtcttttaaactactc c.*2340
. . g.62175
ggatgtgtcctttctgaacaaaa c.*2363
(downstream sequence)
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