(used for variant description)
(last modified April 19, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_052934.3 in the SLC26A9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering SLC26A9 transcript NM_052934.3.
(upstream sequence)
. . . . . g.5054
gagcagagccctttcacacacctcaggaacacctttcggctgcccgctccccag c.-61
. . . . . | 02 . g.12640
acacacctgcagccctgcccagccggctttgctcacccactg | cttgtaaatgccccagat c.-1
. . . . . . g.12700
ATGAGCCAGCCCAGGCCCCGCTACGTGGTAGACAGAGCCGCATACTCCCTTACCCTCTTC c.60
M S Q P R P R Y V V D R A A Y S L T L F p.20
. . . . . . g.12760
GACGATGAGTTTGAGAAGAAGGACCGGACATACCCAGTGGGAGAGAAACTTCGCAATGCC c.120
D D E F E K K D R T Y P V G E K L R N A p.40
| 03 . . . . . . g.15431
TTCAG | ATGTTCCTCAGCCAAGATCAAAGCTGTGGTGTTTGGGCTGCTGCCTGTGCTCTCC c.180
F R | C S S A K I K A V V F G L L P V L S p.60
. . . . . . g.15491
TGGCTCCCCAAGTACAAGATTAAAGACTACATCATTCCTGACCTGCTCGGTGGACTCAGC c.240
W L P K Y K I K D Y I I P D L L G G L S p.80
. . | 04 . . . . g.15683
GGGGGATCCATCCAGGTCCCACAAG | GCATGGCATTTGCTCTGCTGGCCAACCTTCCTGCA c.300
G G S I Q V P Q G | M A F A L L A N L P A p.100
. . . . . . g.15743
GTCAATGGCCTCTACTCCTCCTTCTTCCCCCTCCTGACCTACTTCTTCCTGGGGGGTGTT c.360
V N G L Y S S F F P L L T Y F F L G G V p.120
. | 05 . . . . . g.16469
CACCAGATGGTGCCAG | GTACCTTTGCCGTTATCAGCATCCTGGTGGGTAACATCTGTCTG c.420
H Q M V P G | T F A V I S I L V G N I C L p.140
. . . . . . g.16529
CAGCTGGCCCCAGAGTCGAAATTCCAGGTCTTCAACAATGCCACCAATGAGAGCTATGTG c.480
Q L A P E S K F Q V F N N A T N E S Y V p.160
. . . . . . g.16589
GACACAGCAGCCATGGAGGCTGAGAGGCTGCACGTGTCAGCTACGCTAGCCTGCCTCACC c.540
D T A A M E A E R L H V S A T L A C L T p.180
. | 06 . . . . . g.18452
GCCATCATCCAG | ATGGGTCTGGGCTTCATGCAGTTTGGCTTTGTGGCCATCTACCTCTCC c.600
A I I Q | M G L G F M Q F G F V A I Y L S p.200
. . . . . . g.18512
GAGTCCTTCATCCGGGGCTTCATGACGGCCGCCGGCCTGCAGATCCTGATTTCGGTGCTC c.660
E S F I R G F M T A A G L Q I L I S V L p.220
. . . . . | 07. g.19107
AAGTACATCTTCGGACTGACCATCCCCTCCTACACAGGCCCAGGGTCCATCGTCTTT | ACC c.720
K Y I F G L T I P S Y T G P G S I V F | T p.240
. . . . . . g.19167
TTCATTGACATTTGCAAAAACCTCCCCCACACCAACATCGCCTCGCTCATCTTCGCTCTC c.780
F I D I C K N L P H T N I A S L I F A L p.260
. . . . . . g.19227
ATCAGCGGTGCCTTCCTGGTGCTGGTGAAGGAGCTCAATGCTCGCTACATGCACAAGATT c.840
I S G A F L V L V K E L N A R Y M H K I p.280
. . . | 08 . . . g.19581
CGCTTCCCCATCCCTACAGAGATGATTGTG | GTGGTGGTGGCAACAGCTATCTCCGGGGGC c.900
R F P I P T E M I V | V V V A T A I S G G p.300
. . . . . | 09 . g.20418
TGTAAGATGCCCAAAAAGTATCACATGCAGATCGTGGGAGAAATCCAACGCGG | GTTCCCC c.960
C K M P K K Y H M Q I V G E I Q R G | F P p.320
. . . . . . g.20478
ACCCCGGTGTCGCCTGTGGTCTCACAGTGGAAGGACATGATAGGCACAGCCTTCTCCCTA c.1020
T P V S P V V S Q W K D M I G T A F S L p.340
. . . . . . g.20538
GCCATCGTGAGCTACGTCATCAACCTGGCTATGGGCCGGACCCTGGCCAACAAGCACGGC c.1080
A I V S Y V I N L A M G R T L A N K H G p.360
. . | 10 . . . . g.20894
TACGACGTGGATTCGAACCAG | GAGATGATCGCTCTCGGCTGCAGCAACTTCTTTGGCTCC c.1140
Y D V D S N Q | E M I A L G C S N F F G S p.380
. . . . . . g.20954
TTCTTTAAAATTCATGTCATTTGCTGTGCGCTTTCTGTCACTCTGGCTGTGGATGGAGCT c.1200
F F K I H V I C C A L S V T L A V D G A p.400
. | 11 . . . . . g.21217
GGAGGAAAATCCCAG | GTGGCCAGCCTGTGTGTGTCTCTGGTGGTGATGATCACCATGCTG c.1260
G G K S Q | V A S L C V S L V V M I T M L p.420
. . . | 12 . . . g.21857
GTCCTGGGGATCTATCTGTATCCTCTCCCTAAG | TCTGTGCTAGGAGCCCTGATCGCTGTC c.1320
V L G I Y L Y P L P K | S V L G A L I A V p.440
. . . . . . g.21917
AATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAG c.1380
N L K N S L K Q L T D P Y Y L W R K S K p.460
| 13 . . . . . g.24022
CTGGACTGT | TGCATCTGGGTAGTGAGCTTCCTCTCCTCCTTCTTCCTCAGCCTGCCCTAT c.1440
L D C | C I W V V S F L S S F F L S L P Y p.480
. . . . . | 14 . g.24851
GGTGTGGCAGTGGGTGTCGCCTTCTCCGTCCTGGTCGTGGTCTTCCAGACTCAGTT | TCGA c.1500
G V A V G V A F S V L V V V F Q T Q F | R p.500
. . . . . . g.24911
AATGGCTATGCACTGGCCCAGGTCATGGACACTGACATTTATGTGAATCCCAAGACCTAT c.1560
N G Y A L A Q V M D T D I Y V N P K T Y p.520
| 15 . . . . . . g.25087
AATAGG | GCCCAGGATATCCAGGGGATTAAAATCATCACGTACTGCTCCCCTCTCTACTTT c.1620
N R | A Q D I Q G I K I I T Y C S P L Y F p.540
. . . | 16 . . g.25286
GCCAACTCAGAGATCTTCAGGCAAAAGGTCATCGCCAAG | ACAGGCATGGACCCCCAGAAA c.1680
A N S E I F R Q K V I A K | T G M D P Q K p.560
. . . . . . g.25346
GTATTACTAGCCAAGCAAAAATACCTCAAGAAGCAGGAGAAGCGGAGAATGAGGCCCACA c.1740
V L L A K Q K Y L K K Q E K R R M R P T p.580
. . . | 17 . . . g.26640
CAACAGAGGAGGTCTCTATTCATGAAAACCAAG | ACTGTCTCCCTGCAGGAGCTGCAGCAG c.1800
Q Q R R S L F M K T K | T V S L Q E L Q Q p.600
. . . . . . g.26700
GACTTTGAGAATGCGCCCCCCACCGACCCCAACAACAACCAGACCCCGGCTAACGGCACC c.1860
D F E N A P P T D P N N N Q T P A N G T p.620
. . . . . . g.26760
AGCGTGTCCTATATCACCTTCAGCCCTGACAGCTCCTCACCTGCCCAGAGTGAGCCACCA c.1920
S V S Y I T F S P D S S S P A Q S E P P p.640
. . . . . . g.26820
GCCTCCGCTGAGGCCCCCGGCGAGCCCAGTGACATGCTGGCCAGCGTCCCACCCTTCGTC c.1980
A S A E A P G E P S D M L A S V P P F V p.660
. . . . . . g.26880
ACCTTCCACACCCTCATCCTGGACATGAGTGGAGTCAGCTTCGTGGACTTGATGGGCATC c.2040
T F H T L I L D M S G V S F V D L M G I p.680
. | 18 . . . . . g.28275
AAGGCCCTGGCCAAG | CTGAGCTCCACCTATGGGAAGATCGGCGTGAAGGTCTTCTTGGTG c.2100
K A L A K | L S S T Y G K I G V K V F L V p.700
. | 19 . . . . . g.29525
AACATCCATG | CCCAGGTGTACAATGACATTAGCCATGGAGGCGTCTTTGAGGATGGGAGT c.2160
N I H A | Q V Y N D I S H G G V F E D G S p.720
. . . . . . g.29585
CTAGAATGCAAGCACGTCTTTCCCAGCATACATGACGCAGTCCTCTTTGCCCAGGCAAAT c.2220
L E C K H V F P S I H D A V L F A Q A N p.740
. . . | 20 . . . g.31130
GCTAGAGACGTGACCCCAGGACACAACTTCCAAGGG | GCTCCAGGGGATGCTGAGCTCTCC c.2280
A R D V T P G H N F Q G | A P G D A E L S p.760
. . . . | 21 . g.33068
TTGTACGACTCAGAGGAGGACATTCGCAGCTACTGGGACTTAGAGCAG | GAGATGTTCGGG c.2340
L Y D S E E D I R S Y W D L E Q | E M F G p.780
. . . g.33104
AGCATGTTTCACGCAGAGACCCTGACCGCCCTGTGA c.2376
S M F H A E T L T A L X p.791
. . . . . . g.33164
gggctcagccagtcctcatgctgcctacagagtgcctggcacttgggacttccataaagg c.*60
. . . . . . g.33224
atgagcctggggtcacagggggtgtcgggcggaggaaagtgcatcccccagagcttgggt c.*120
. . . . . . g.33284
tcctctctcctctccccctctctcctcccttccttccctccccgcatctccagagagagc c.*180
. . . . . . g.33344
ctctcagcagcaggggggtgctacccttacaggagtgagagtctggtgagcccactcttc c.*240
. . . . . . g.33404
acccgtcaggccctggccgcaatggacaagcctcctgctcactccaccccacccacctct c.*300
. . . . . . g.33464
gccctgtccttggcagctgaaggacaccttgacttccagcttttacgagtgagccaaaaa c.*360
. . . . . . g.33524
cagaaggacaagtacaactgtgctggcctgctgtacaagcttcaaaaagtgtcccagagc c.*420
. . . . . . g.33584
ccacacggctcggtgtcagatggtgtcaggctgtcacggacatagggataaacttggtta c.*480
. . . . . . g.33644
ggactctggcttgccttccccagctgcctcaactctgtctctggcagctctgcacccagg c.*540
. . . . . . g.33704
gaccatgtgctctccacacccaggagtctaggccttggtaactatgcgccccccctccat c.*600
. . . . . . g.33764
catccccaaggctgcccaaaccaccactgctgtcagcaagcacatcagactctagcctgg c.*660
. . . . . . g.33824
acagtggccaggaccgtcgagaccaccagagctacctccccggggacagcccactaaggt c.*720
. . . . . . g.33884
tctgcctcagcctcctgaaacatcactgccctcagaggctgctcccttcccctggaggct c.*780
. . . . . . g.33944
ggctagaaaccccaaagagggggatgggtagctggcagaatcatctggcatcctagtaat c.*840
. . . . . . g.34004
agataccagttattctgcacaaaacttttgggaattcctctttgcacccagagactcaga c.*900
. . . . . . g.34064
ggggaagagggtgctagtaccaacacagggaaaacggatgggacctgggcccagacagtc c.*960
. . . . . . g.34124
ccccttgaccccagggcccatcagggaaatgcctccctttggtaaatctgccttatcctt c.*1020
. . . . . . g.34184
ctttacctggcaaagagccaatcatgttaactcttccttatcagcctgtggcccagagac c.*1080
. . . . . . g.34244
acaatggggtccttctgtaggcaaaggtggaagtcctccagggatccgctacatccccta c.*1140
. . . . . . g.34304
actgcatgcagatgtggaaaggggctgatccagattgggtcttcctgcacaggaagactc c.*1200
. . . . . . g.34364
tttaacacccttaggacctcaggccatcttctcctatgaagatgaaaataggggttaagt c.*1260
. . . . . . g.34424
tttccatatgtacaaggaggtattgagaggaaccctactgttgacttgaaaataaatagg c.*1320
. . . . . . g.34484
ttccatgtgtaagtgttttgtaaaatttcagtggaaatgcacagaaaatcttctggcctc c.*1380
. . . . . . g.34544
tcatcactgcttttctcaagcttcttcagcttaacaaccccttccctaacaggttgggct c.*1440
. . . . . . g.34604
ggcccagcctaggaaaacatccccatttctaacttcagccagacctgcgttgtgtgtctg c.*1500
. . . . . . g.34664
tgtgttgagtgagctggtcagctaacaagtcttcttagagttaaaggagggggtgctggc c.*1560
. . . . . . g.34724
caagagccaacacattcttggcccaggagcattgcttttctgtgaattcattatgccatc c.*1620
. . . . . . g.34784
tggctgccaatggaactcaaaacttggaaggcgaaggacaatgttatctgggattcaccg c.*1680
. . . . . . g.34844
tgcccagcacccgaagtgccaaattccaggaggacaagagccttagccaatgacaactca c.*1740
. . . . . . g.34904
ctctcccctactccacctccttccaagtccagctcaggcccaggaggtgggagaaggtca c.*1800
. . . . . . g.34964
cagagcctcaggaatttccaagtcagagtcccctttgaaccaagtatctagatcccctga c.*1860
. . . . . . g.35024
ggacttgatgaagtgatccttaacccccaagtaatcattaacccccagaccagcctcaga c.*1920
. . . . . . g.35084
actgaaggagattgttgacccagtgacctggagttgaggctcagggagagatctgccaca c.*1980
. . . . . . g.35144
tgtctgagggttgcagagcccgctgtggaggtaagattggaaacacatgaggcagaggga c.*2040
. . . . . . g.35204
agacattgaagaaaacatctctgctggaatatttggaaaagaacactcttctggacctgg c.*2100
. . . . . . g.35264
ttgaagcaggaaagatggaggcaaagtagtgaaataatccagaatttcaatgcttttgaa c.*2160
. . . . . . g.35324
tgttcttagtgatactgacctgtgataatataattcccagggaggactgggaaccttatc c.*2220
. . . . . . g.35384
tcttgagatatttgcataatttatttaatttaagcctcattctccttttgttcattttgg c.*2280
. . g.35413
taataaactggatttgaattgtgaacaaa c.*2309
(downstream sequence)
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