(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000111.2 in the SLC26A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008046.1, covering SLC26A3 transcript NM_000111.2.
(upstream sequence)
. . . g.5031
atatggatgcacacagagcctgtagacctga c.-181
. . . . . . g.5091
gtggatggacactgcctcttagaactagaacttagaactttatcttgaaaatgtaccact c.-121
. . . . | 02 . . g.13664
gttgcagaagctcctcacagagtatgtgtcag | gcatttttaacctgctaaaggcaagaag c.-61
. . . . . . g.13724
aagtgttcaccacatagttgcaaaggtcttcaacttgccacagccaacagaaaaatcaaa c.-1
. . . . . . g.13784
ATGATTGAACCCTTTGGGAATCAGTATATTGTGGCCAGGCCAGTGTATTCTACAAATGCT c.60
M I E P F G N Q Y I V A R P V Y S T N A p.20
. . . . . . g.13844
TTTGAGGAAAATCATAAAAAGACAGGAAGACATCATAAGACATTTCTGGATCATCTCAAA c.120
F E E N H K K T G R H H K T F L D H L K p.40
. | 03 . . . . . g.14401
GTGTGTTGTAG | CTGTTCCCCACAAAAGGCCAAGAGAATTGTCCTCTCTTTGTTCCCCATA c.180
V C C S | C S P Q K A K R I V L S L F P I p.60
. . . . . . g.14461
GCATCTTGGTTGCCAGCATACCGGCTTAAAGAATGGTTGCTCAGTGATATTGTTTCTGGT c.240
A S W L P A Y R L K E W L L S D I V S G p.80
. . . | 04 . . . g.16322
ATCAGCACAGGGATTGTGGCCGTACTACAAG | GTTTAGCATTTGCTCTGCTGGTCGACATT c.300
I S T G I V A V L Q G | L A F A L L V D I p.100
. . . . . . g.16382
CCCCCAGTCTATGGGTTGTATGCATCCTTTTTCCCAGCCATAATCTACCTTTTCTTCGGC c.360
P P V Y G L Y A S F F P A I I Y L F F G p.120
. . | 05 . . . . g.17036
ACTTCCAGACACATATCCGTGG | GTCCGTTTCCGATTCTGAGTATGATGGTGGGACTAGCA c.420
T S R H I S V G | P F P I L S M M V G L A p.140
. . . . . . g.17096
GTTTCAGGAGCAGTTTCAAAAGCAGTCCCAGATCGCAATGCAACTACTTTGGGATTGCCT c.480
V S G A V S K A V P D R N A T T L G L P p.160
. . . . . . g.17156
AACAACTCGAATAATTCTTCACTACTGGATGACGAGAGGGTGAGGGTGGCGGCGGCGGCA c.540
N N S N N S S L L D D E R V R V A A A A p.180
. . . | 06 . . . g.18575
TCAGTCACAGTGCTTTCTGGAATCATCCAG | TTGGCTTTTGGGATTCTGCGGATTGGATTT c.600
S V T V L S G I I Q | L A F G I L R I G F p.200
. . . . . . g.18635
GTAGTGATATACCTGTCTGAGTCCCTCATCAGTGGCTTCACTACTGCTGCTGCTGTTCAT c.660
V V I Y L S E S L I S G F T T A A A V H p.220
. . . . . . g.18695
GTTTTGGTTTCCCAACTCAAATTCATTTTTCAGTTGACAGTCCCGTCACACACTGATCCA c.720
V L V S Q L K F I F Q L T V P S H T D P p.240
. | 07 . . . . . g.20769
GTTTCAATTTTCAAA | GTACTATACTCTGTATTCTCACAAATAGAGAAGACTAATATTGCA c.780
V S I F K | V L Y S V F S Q I E K T N I A p.260
. . . . . . g.20829
GACCTGGTGACAGCTCTGATTGTCCTTTTGGTTGTATCCATTGTTAAAGAAATAAATCAG c.840
D L V T A L I V L L V V S I V K E I N Q p.280
. . . . | 08 . g.21336
CGCTTCAAAGACAAACTTCCAGTGCCCATTCCAATCGAATTCATTATG | ACCGTGATTGCA c.900
R F K D K L P V P I P I E F I M | T V I A p.300
. . . . . . g.21396
GCAGGTGTATCCTACGGCTGTGACTTTAAAAACAGGTTTAAAGTGGCTGTGGTTGGGGAC c.960
A G V S Y G C D F K N R F K V A V V G D p.320
. | 09 . . . . . g.24930
ATGAATCCTGG | ATTTCAGCCCCCTATTACACCTGACGTGGAGACTTTCCAAAACACCGTA c.1020
M N P G | F Q P P I T P D V E T F Q N T V p.340
. . . . . . g.24990
GGAGATTGCTTCGGCATCGCAATGGTTGCATTTGCAGTGGCCTTTTCAGTTGCCAGCGTC c.1080
G D C F G I A M V A F A V A F S V A S V p.360
. . . | 10 . . g.25161
TATTCCCTCAAATACGATTATCCACTTGATGGCAATCAG | GAGTTAATAGCCTTGGGACTG c.1140
Y S L K Y D Y P L D G N Q | E L I A L G L p.380
. . . . . . g.25221
GGTAACATAGTCTGTGGAGTATTCAGAGGATTTGCTGGGAGTACTGCCCTCTCCAGATCA c.1200
G N I V C G V F R G F A G S T A L S R S p.400
. . . | 11 . . . g.25386
GCAGTTCAGGAGAGCACAGGAGGCAAAACACAG | ATTGCTGGGCTTATTGGTGCCATCATC c.1260
A V Q E S T G G K T Q | I A G L I G A I I p.420
. . . . . | 12 . g.28479
GTGCTGATTGTCGTTCTAGCCATTGGATTTCTCCTGGCGCCTCTACAAAAG | TCCGTCCTG c.1320
V L I V V L A I G F L L A P L Q K | S V L p.440
. . . . . . g.28539
GCAGCTTTAGCATTGGGAAACTTAAAGGGAATGCTGATGCAGTTTGCTGAAATAGGCAGA c.1380
A A L A L G N L K G M L M Q F A E I G R p.460
. . | 13. . . . g.29985
TTGTGGCGAAAGGACAAATATGATTGT | TTAATTTGGATCATGACCTTCATCTTCACCATT c.1440
L W R K D K Y D C | L I W I M T F I F T I p.480
. . . . . . g.30045
GTCCTGGGACTCGGGTTAGGCCTGGCAGCTAGTGTGGCATTTCAACTGCTAACCATCGTG c.1500
V L G L G L G L A A S V A F Q L L T I V p.500
. | 14 . . . . . g.31573
TTCAGGACCCAATT | TCCAAAATGCAGCACGCTGGCTAATATTGGAAGAACCAACATCTAT c.1560
F R T Q F | P K C S T L A N I G R T N I Y p.520
. . | 15 . . . . g.31725
AAGAATAAAAAAGATTATTATGAT | ATGTATGAGCCAGAAGGAGTGAAAATTTTCAGATGT c.1620
K N K K D Y Y D | M Y E P E G V K I F R C p.540
. . . . . | 16. g.33364
CCATCTCCTATCTACTTTGCAAACATTGGTTTCTTTAGGCGGAAACTTATCGATGCT | GTT c.1680
P S P I Y F A N I G F F R R K L I D A | V p.560
. . . . . . g.33424
GGCTTTAGTCCACTTCGAATTCTACGCAAGCGCAACAAAGCTTTGAGGAAAATCCGAAAA c.1740
G F S P L R I L R K R N K A L R K I R K p.580
. . . | 17 . . . g.34107
CTGCAGAAGCAAGGCTTGCTACAAGTGACACCA | AAAGGATTTATATGTACTGTTGACACC c.1800
L Q K Q G L L Q V T P | K G F I C T V D T p.600
. . . . . . g.34167
ATAAAAGATTCTGACGAAGAGCTGGACAACAATCAGATAGAAGTACTGGACCAGCCAATC c.1860
I K D S D E E L D N N Q I E V L D Q P I p.620
. . . . . . g.34227
AATACCACAGACCTGCCTTTCCACATTGACTGGAATGATGATCTTCCTCTCAACATTGAG c.1920
N T T D L P F H I D W N D D L P L N I E p.640
. . . . . . g.34287
GTCCCCAAAATCAGCCTCCACAGCCTCATTCTTGACTTTTCAGCAGTGTCCTTTCTTGAT c.1980
V P K I S L H S L I L D F S A V S F L D p.660
. . | 18. . . . g.36158
GTTTCTTCAGTGAGGGGCCTTAAATCG | ATTTTGCAAGAATTTATCAGGATCAAGGTAGAT c.2040
V S S V R G L K S | I L Q E F I R I K V D p.680
. . | 19 . . . . g.40363
GTGTATATCGTTGGAACTGATG | ATGACTTCATTGAGAAGCTTAACCGGTATGAATTTTTT c.2100
V Y I V G T D D | D F I E K L N R Y E F F p.700
. . . . . . g.40423
GATGGTGAAGTGAAAAGCTCAATATTTTTCTTAACAATCCATGATGCTGTTTTGCATATT c.2160
D G E V K S S I F F L T I H D A V L H I p.720
. . . . | 20 . . g.40604
TTGATGAAGAAAGATTACAGTACTTCAAAGTTTAATCCCAGTCAG | GAAAAAGATGGAAAA c.2220
L M K K D Y S T S K F N P S Q | E K D G K p.740
. . . . . | 21 . g.42364
ATTGATTTTACCATAAATACAAATGGAGGATTACGTAATCGGGTATATGAG | GTGCCAGTT c.2280
I D F T I N T N G G L R N R V Y E | V P V p.760
. g.42379
GAAACAAAATTCTAA c.2295
E T K F X p.764
. . . . . . g.42439
tcaacatataattcagaaggatcttcatctgactatgacataaaaacaactttataccca c.*60
. . . . . . g.42499
gaaagttattgataagttcatacattgtacgaagagtatttttgacagaatatgtttcaa c.*120
. . . . . . g.42559
actttggaacaagatggttctagcatggcatatttttcacatatctagtatgaaattata c.*180
. . . . . . g.42619
taagtattctaaattttatatcttgtagctttatcaaagggtgaaaattattttgttcat c.*240
. . . . . . g.42679
acatatttttgtagcactgacagatttccatcctagtcactaccttcatgcataggttta c.*300
. . . . . . g.42739
gcagtatagtggcgccactgttttgaatctcataatttatacaggtcatattaatatatt c.*360
. . g.42767
tccattaaaaaatcagttgtacagtgga c.*388
(downstream sequence)
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