(used for variant description)
(last modified October 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_022911.2 in the SLC26A6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering SLC26A6 transcript NM_022911.2.
(upstream sequence)
. . . . g.5040
gagcgcagctggcctcacccggtcccggcgccgccttccg c.-61
. . . . . . g.5100
gagcgtagcggcctctagctcgagcagcaggagcagcccgcaccggacaacttgcgagcc c.-1
. . | 02 . . . . g.6895
ATGGGGCTGGCGGATGCGTCGGG | ACCGAGGGACACACAGGCACTGCTGTCTGCAACACAA c.60
M G L A D A S G | P R D T Q A L L S A T Q p.20
. . . . . . g.6955
GCAATGGACCTGCGGAGGCGAGACTACCACATGGAACGGCCGCTGCTGAACCAGGAGCAT c.120
A M D L R R R D Y H M E R P L L N Q E H p.40
. . . . . . g.7015
TTGGAGGAGCTGGGGCGCTGGGGCTCAGCACCTAGGACCCACCAGTGGCGGACCTGGTTG c.180
L E E L G R W G S A P R T H Q W R T W L p.60
| 03 . . . . . . g.7161
CA | GTGCTCCCGTGCTCGGGCCTATGCCCTTCTGCTCCAACACCTCCCGGTTTTGGTCTGG c.240
Q | C S R A R A Y A L L L Q H L P V L V W p.80
. . . . . . g.7221
TTACCCCGGTATCCTGTGCGTGACTGGCTCCTGGGTGACCTGTTATCCGGCCTGAGTGTG c.300
L P R Y P V R D W L L G D L L S G L S V p.100
. . | 04 . . . . g.7447
GCCATCATGCAGCTTCCGCAGG | GCTTGGCCTACGCCCTCCTGGCTGGATTGCCCCCCGTG c.360
A I M Q L P Q G | L A Y A L L A G L P P V p.120
. . . . . . g.7507
TTTGGCCTCTATAGCTCCTTCTACCCTGTCTTCATCTACTTCCTGTTTGGCACTTCCCGG c.420
F G L Y S S F Y P V F I Y F L F G T S R p.140
. | 05 . . . . . g.8144
CACATCTCCGTGG | GGACCTTTGCTGTCATGTCTGTGATGGTGGGCAGTGTGACAGAATCC c.480
H I S V G | T F A V M S V M V G S V T E S p.160
. . . . . . g.8204
CTGGCCCCGCAGGCCTTGAACGACTCCATGATCAATGAGACAGCCAGAGATGCTGCCCGG c.540
L A P Q A L N D S M I N E T A R D A A R p.180
. . . . | 06 . . g.8464
GTACAGGTGGCCTCCACACTCAGTGTCCTGGTTGGCCTCTTCCAG | GTGGGGCTGGGCCTG c.600
V Q V A S T L S V L V G L F Q | V G L G L p.200
. . . . . . g.8524
ATCCACTTCGGCTTCGTGGTCACCTACCTGTCAGAACCTCTTGTCCGAGGCTATACCACA c.660
I H F G F V V T Y L S E P L V R G Y T T p.220
. . . . . . g.8584
GCTGCAGCTGTGCAGGTCTTCGTCTCACAGCTCAAGTATGTGTTTGGCCTCCATCTGAGC c.720
A A A V Q V F V S Q L K Y V F G L H L S p.240
. . . | 07 . . . g.8722
AGCCACTCTGGGCCACTGTCCCTCATCTAT | ACAGTGCTGGAGGTCTGCTGGAAGCTGCCC c.780
S H S G P L S L I Y | T V L E V C W K L P p.260
. . . . . . g.8782
CAGAGCAAGGTTGGCACCGTGGTCACTGCAGCTGTGGCTGGGGTGGTGCTCGTGGTGGTG c.840
Q S K V G T V V T A A V A G V V L V V V p.280
. . . . . . g.8842
AAGCTGTTGAATGACAAGCTGCAGCAGCAGCTGCCCATGCCGATACCCGGGGAGCTGCTC c.900
K L L N D K L Q Q Q L P M P I P G E L L p.300
| 08 . . . . . . g.9244
ACG | CTCATCGGGGCCACAGGCATCTCCTATGGCATGGGTCTAAAGCACAGATTTGAGGTA c.960
T | L I G A T G I S Y G M G L K H R F E V p.320
. . | 09 . . . . g.9387
GATGTCGTGGGCAACATCCCTGCAGG | GCTGGTGCCCCCAGTGGCCCCCAACACCCAGCTG c.1020
D V V G N I P A G | L V P P V A P N T Q L p.340
. . . . . . g.9447
TTCTCAAAGCTCGTGGGCAGCGCCTTCACCATCGCTGTGGTTGGGTTTGCCATTGCCATC c.1080
F S K L V G S A F T I A V V G F A I A I p.360
. . . . . | 10 . g.9779
TCACTGGGGAAGATCTTCGCCCTGAGGCACGGCTACCGGGTGGACAGCAACCAG | GAGCTG c.1140
S L G K I F A L R H G Y R V D S N Q | E L p.380
. . . . . . g.9839
GTGGCCCTGGGCCTCAGTAACCTTATCGGAGGCATCTTCCAGTGCTTCCCCGTGAGTTGC c.1200
V A L G L S N L I G G I F Q C F P V S C p.400
. . . . | 11 . g.9990
TCTATGTCTCGGAGCCTGGTACAGGAGAGCACCGGGGGCAACTCGCAG | GTTGCTGGAGCC c.1260
S M S R S L V Q E S T G G N S Q | V A G A p.420
. . . . . . g.10050
ATCTCTTCCCTTTTCATCCTCCTCATCATTGTCAAACTTGGGGAACTCTTCCATGACCTG c.1320
I S S L F I L L I I V K L G E L F H D L p.440
| 12 . . . . . . g.10390
CCCAAG | GCGGTCCTGGCAGCCATCATCATTGTGAACCTGAAGGGCATGCTGAGGCAGCTC c.1380
P K | A V L A A I I I V N L K G M L R Q L p.460
. . . . | 13 . . g.10533
AGCGACATGCGCTCCCTCTGGAAGGCCAATCGGGCGGATCTG | CTTATCTGGCTGGTGACC c.1440
S D M R S L W K A N R A D L | L I W L V T p.480
. . . . . . g.10593
TTCACGGCCACCATCTTGCTGAACCTGGACCTTGGCTTGGTGGTTGCGGTCATCTTCTCC c.1500
F T A T I L L N L D L G L V V A V I F S p.500
. . | 14 . . . g.10813
CTGCTGCTCGTGGTGGTCCGGACACAGAT | GCCCCACTACTCTGTCCTGGGGCAGGTGCCA c.1560
L L L V V V R T Q M | P H Y S V L G Q V P p.520
. . . | 15 . . g.11800
GACACGGATATTTACAGAGATGTGGCAGAGTACTCAGAG | GCCAAGGAAGTCCGGGGGGTG c.1620
D T D I Y R D V A E Y S E | A K E V R G V p.540
. . . . . . g.11860
AAGGTCTTCCGCTCCTCGGCCACCGTGTACTTTGCCAATGCTGAGTTCTACAGTGATGCG c.1680
K V F R S S A T V Y F A N A E F Y S D A p.560
. | 16 . . . . . g.12000
CTGAAGCAGAGG | TGTGGTGTGGATGTCGACTTCCTCATCTCCCAGAAGAAGAAACTGCTC c.1740
L K Q R | C G V D V D F L I S Q K K K L L p.580
. . . . . . g.12060
AAGAAGCAGGAGCAGCTGAAGCTGAAGCAACTGCAGAAAGAGGAGAAGCTTCGGAAACAG c.1800
K K Q E Q L K L K Q L Q K E E K L R K Q p.600
| 17 . . . . . . g.12515
| GCTGCCTCCCCCAAGGGCGCCTCAGTTTCCATTAATGTCAACACCAGCCTTGAAGACATG c.1860
| A A S P K G A S V S I N V N T S L E D M p.620
. . . | 18 . . . g.13465
AGGAGCAACAACGTTGAGGACTGCAAGATGATG | CAGGTGAGCTCAGGAGATAAGATGGAA c.1920
R S N N V E D C K M M | Q V S S G D K M E p.640
. . . . . . g.13525
GATGCAACAGCCAATGGTCAAGAAGACTCCAAGGCCCCAGATGGGTCCACACTGAAGGCC c.1980
D A T A N G Q E D S K A P D G S T L K A p.660
. . . . . . g.13585
CTGGGCCTGCCTCAGCCAGACTTCCACAGCCTCATCCTGGACCTGGGTGCCCTCTCCTTT c.2040
L G L P Q P D F H S L I L D L G A L S F p.680
. . . | 19 . . . g.13835
GTGGACACTGTGTGCCTCAAGAGCCTGAAGAAT | ATTTTCCATGACTTCCGGGAGATTGAG c.2100
V D T V C L K S L K N | I F H D F R E I E p.700
. . | 20 . . . g.14171
GTGGAGGTGTACATGGCGGCCTGCCACA | GCCCTGTGGTCAGCCAGCTTGAGGCTGGGCAC c.2160
V E V Y M A A C H S | P V V S Q L E A G H p.720
. . . . . . g.14231
TTCTTCGATGCATCCATCACCAAGAAGCATCTCTTTGCCTCTGTCCATGATGCTGTCACC c.2220
F F D A S I T K K H L F A S V H D A V T p.740
. . . . | 21 . . g.14508
TTTGCCCTCCAACACCCGAGGCCTGTCCCCGACAGCCCTGTTTCG | GTCACCAGACTCTGA c.2280
F A L Q H P R P V P D S P V S | V T R L X p.759
. . . . . . g.14568
acatgctacatcctgcccaagactgcacctctggaggtgcagggcacccttgagaagccc c.*60
. . . . . . g.14628
ctcacccctaggccgcctccaggtgctacccaggagtcccctccatgtacacacacacaa c.*120
. . . . . . g.14688
ctcagggaaggaggtcctgggactccaagttcagcgctccaggtctgggacagggcctgc c.*180
. . . . . . g.14748
atgcagtcaggctggcagtggcgcggtacagggagggaactggtgcatattttagcctca c.*240
. . g.14771
ggaataaagatttgtctgctcaa c.*263
(downstream sequence)
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