(used for variant description)
(last modified April 2, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_015404.3 in the DFNB31 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016700.1, covering DFNB31 transcript NM_015404.3.
(upstream sequence)
. . . . . g.5055
ctcaacagttcgcaaagtccgggcttgcggccgggcggcgcagaggcgcggaggc c.-601
. . . . . . g.5115
tccccgggcggctgcatcccggggctgccccggacatgccccgcaccccttgtcggacgc c.-541
. . . . . . g.5175
ccgcgccgcttcaccggctgccactccccggagtgctctgggactagagcgccctccgcc c.-481
. . . . . . g.5235
ccaacttctgactttggggtcccccagccctagaggaacgggcgcccggctgggggagcc c.-421
. . . . . . g.5295
ccgggcatggtgtgacggggcagtcaggtcagctttgcggcgcccccaaactccagccac c.-361
. . . . . . g.5355
ccgtcgtctccgtgccctccagaatgtagctgctgaccccgcgccccccggactccagca c.-301
. . . . . . g.5415
gcagtctccgccacctccgggctccagcagccaactcttgtgtctctcaggaacccgccg c.-241
. . . . . . g.5475
acgtctccgcgtcccccggattccaggttcgcgacccccgccgtcttcgcgcctccggga c.-181
. . . . . . g.5535
ctctagcagcggtctccgcgaccccctaggatccagccactgtacccgtgctccccaaac c.-121
. . . . . . g.5595
ccaggctccagccgtcgtctccgcgctcccggggatccagctgtcgcgccagtacccgcg c.-61
. . . . . . g.5655
aggacagcggcaccgcccacaccccgcgcgctcagagcccggccgggcctcggcgtggag c.-1
. . . . . . g.5715
ATGAACGCGCCGCTGGACGGCCTGTCGGTGAGCTCGTCCTCCACCGGCTCGCTGGGCTCG c.60
M N A P L D G L S V S S S S T G S L G S p.20
. . . . . . g.5775
GCGGCCGGGGCGGGCGGCGGCGGGGGCGCGGGGCTGCGGTTACTGTCTGCCAACGTGCGC c.120
A A G A G G G G G A G L R L L S A N V R p.40
. . . . . . g.5835
CAGCTGCACCAAGCGCTGACCGCGCTGCTGAGCGAGGCGGAGCGGGAGCAGTTCACCCAC c.180
Q L H Q A L T A L L S E A E R E Q F T H p.60
. . . . . . g.5895
TGCCTGAACGCTTACCACGCGCGCCGCAACGTCTTCGACCTGGTGCGCACCCTGCGCGTG c.240
C L N A Y H A R R N V F D L V R T L R V p.80
. . . . . . g.5955
CTGCTGGACAGTCCGGTCAAGCGGCGCCTGCTGCCCATGCTTCGTCTGGTCATCCCGCGC c.300
L L D S P V K R R L L P M L R L V I P R p.100
. . . . . . g.6015
TCCGACCAGCTGCTCTTCGACCAATACACGGCCGAGGGCCTCTACCTGCCCGCCACCACC c.360
S D Q L L F D Q Y T A E G L Y L P A T T p.120
. . . . . . g.6075
CCCTACAGGCAGCCCGCCTGGGGCGGCCCCGACAGCGCGGGGCCAGGGGAGGTGCGCCTG c.420
P Y R Q P A W G G P D S A G P G E V R L p.140
. . . . . . g.6135
GTGAGTTTGCGGCGTGCCAAGGCCCACGAGGGCTTGGGCTTCAGCATCCGTGGGGGCTCG c.480
V S L R R A K A H E G L G F S I R G G S p.160
. . . . . . g.6195
GAGCACGGCGTGGGCATCTACGTGTCTCTGGTGGAACCAGGCTCTCTAGCTGAGAAGGAA c.540
E H G V G I Y V S L V E P G S L A E K E p.180
. . . . . . g.6255
GGACTGCGGGTCGGGGACCAGATTCTGCGCGTCAACGACAAATCCCTGGCCCGGGTGACC c.600
G L R V G D Q I L R V N D K S L A R V T p.200
. | 02 . . . . g.31727
CACGCGGAGGCCGTCAAG | GCTCTGAAGGGCTCCAAGAAGCTGGTGCTGTCTGTGTACTCA c.660
H A E A V K | A L K G S K K L V L S V Y S p.220
. . . . . . g.31787
GCAGGGCGCATCCCTGGGGGCTACGTCACCAACCACATCTACACCTGGGTGGACCCGCAG c.720
A G R I P G G Y V T N H I Y T W V D P Q p.240
. . . . . . g.31847
GGCCGCAGCATCTCCCCACCCTCGGGCCTGCCCCAGCCCCACGGTGGTGCCCTGAGGCAG c.780
G R S I S P P S G L P Q P H G G A L R Q p.260
. . . . . | 03. g.44067
CAGGAGGGTGACCGGAGGAGCACCCTGCACCTCCTGCAAGGAGGGGATGAGAAAAAG | GTG c.840
Q E G D R R S T L H L L Q G G D E K K | V p.280
. . . . . . g.44127
AACCTGGTGCTGGGGGACGGCCGGTCCCTGGGCCTCACGATCCGTGGGGGAGCTGAGTAC c.900
N L V L G D G R S L G L T I R G G A E Y p.300
. . . . . . g.44187
GGCCTTGGCATTTACATCACTGGCGTGGACCCAGGCTCTGAAGCAGAAGGCAGCGGGCTC c.960
G L G I Y I T G V D P G S E A E G S G L p.320
| 04 . . . . . . g.84100
AAG | GTTGGGGACCAGATTCTAGAAGTGAATGGGCGGAGCTTTCTCAACATCCTACACGAC c.1020
K | V G D Q I L E V N G R S F L N I L H D p.340
. . . . . . g.84160
GAGGCTGTCAGGCTGCTTAAGTCATCTCGGCACCTCATCCTGACAGTGAAGGACGTCGGG c.1080
E A V R L L K S S R H L I L T V K D V G p.360
. . . . . . g.84220
AGGCTGCCCCGTGCCCGCACCACTGTGGACGAGACCAAGTGGATCGCCAGTTCCCGGATC c.1140
R L P R A R T T V D E T K W I A S S R I p.380
. . | 05 . . . . g.85466
AGGGAGACCATGGCGAACTCGGCAGG | GTTTCTTGGCGATCTCACAACAGAAGGAATAAAC c.1200
R E T M A N S A G | F L G D L T T E G I N p.400
| 06 . . . . . . g.85967
AAG | CCAGGATTTTACAAGGGCCCAGCCGGCTCCCAGGTGACCCTGAGCAGCCTGGGGAAC c.1260
K | P G F Y K G P A G S Q V T L S S L G N p.420
. . . . . . g.86027
CAGACACGAGTGCTGCTGGAGGAGCAGGCTCGGCACCTGCTGAACGAGCAGGAACACGCC c.1320
Q T R V L L E E Q A R H L L N E Q E H A p.440
. . . . . . g.86087
ACCATGGCCTACTACCTGGATGAGTACCGTGGTGGCAGCGTCTCTGTGGAGGCCCTCGTC c.1380
T M A Y Y L D E Y R G G S V S V E A L V p.460
. . . | 07 . . . g.86957
ATGGCCCTGTTCAAGCTGCTCAACACCCACGCCAAG | TTCTCACTCCTCTCTGAGGTGAGA c.1440
M A L F K L L N T H A K | F S L L S E V R p.480
. . . . . . g.87017
GGCACCATTTCCCCGCAAGACCTAGAACGCTTCGACCACCTGGTGCTGAGGCGTGAGATT c.1500
G T I S P Q D L E R F D H L V L R R E I p.500
. . . . . . g.87077
GAGTCCATGAAGGCGCGGCAGCCCCCAGGCCCCGGGGCTGGGGACACCTACTCCATGGTC c.1560
E S M K A R Q P P G P G A G D T Y S M V p.520
. . . . . . g.87137
TCCTACAGTGACACGGGTTCATCCACAGGCAGCCACGGCACCTCCACCACCGTCAGCTCG c.1620
S Y S D T G S S T G S H G T S T T V S S p.540
| 08 . . . . . . g.102492
GCCAGG | AACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCC c.1680
A R | N T L D L E E T G E A V Q G N I N A p.560
. | 09 . . . . g.103606
CTCCCAGATGTGTCCGTG | GATGATGTCAGATCCACCTCCCAGGGGCTGTCAAGCTTCAAG c.1740
L P D V S V | D D V R S T S Q G L S S F K p.580
. . . . . . g.103666
CCACTGCCTCGCCCACCACCTCTGGCCCAAGGCAACGACCTCCCACTAGGCCAGCCAAGG c.1800
P L P R P P P L A Q G N D L P L G Q P R p.600
. . . . . . g.103726
AAGCTGGGGAGAGAGGACCTCCAGCCACCTTCCTCCATGCCTTCCTGCTCGGGCACTGTC c.1860
K L G R E D L Q P P S S M P S C S G T V p.620
. . . . . . g.103786
TTCTCGGCTCCACAGAACCGCAGCCCGCCAGCGGGCACCGCACCCACCCCAGGGACCTCC c.1920
F S A P Q N R S P P A G T A P T P G T S p.640
. . . . . . g.103846
TCTGCACAGGACTTGCCCTCTTCCCCCATCTATGCCTCCGTCTCCCCTGCCAACCCCAGC c.1980
S A Q D L P S S P I Y A S V S P A N P S p.660
. . . . . . g.103906
TCCAAGAGGCCGCTGGACGCCCATCTGGCCCTGGTCAACCAACACCCCATCGGCCCCTTC c.2040
S K R P L D A H L A L V N Q H P I G P F p.680
. . . . . . g.103966
CCACGGGTCCAGTCACCCCCGCACCTGAAAAGCCCCTCTGCAGAGGCCACAGTGGCTGGG c.2100
P R V Q S P P H L K S P S A E A T V A G p.700
. . . . . . g.104026
GGCTGCCTTCTGCCCCCATCACCCTCTGGCCACCCAGACCAGACAGGCACAAACCAGCAC c.2160
G C L L P P S P S G H P D Q T G T N Q H p.720
. . . . . . g.104086
TTTGTCATGGTGGAGGTCCACCGCCCCGACAGCGAGCCAGACGTCAATGAAGTGAGGGCG c.2220
F V M V E V H R P D S E P D V N E V R A p.740
. | 10 . . . . . g.106423
CTGCCCCAGACGCGCA | CAGCCTCTACGCTCTCCCACCTCTCGGACAGCGGGCAGACTCTA c.2280
L P Q T R T | A S T L S H L S D S G Q T L p.760
. . . . . . g.106483
AGCGAGGACAGTGGTGTGGATGCTGGCGAGGCAGAGGCCAGCGCCCCAGGCCGAGGAAGG c.2340
S E D S G V D A G E A E A S A P G R G R p.780
. . . . . . g.106543
CAGTCGGTGTCCACCAAGAGCAGGAGTAGCAAGGAGCTGCCTCGGAACGAGAGGCCCACA c.2400
Q S V S T K S R S S K E L P R N E R P T p.800
. | 11 . . . . g.107159
GATGGGGCCAACAAACCG | CCTGGACTTCTGGAGCCCACGTCCACTCTGGTCCGTGTGAAG c.2460
D G A N K P | P G L L E P T S T L V R V K p.820
. . . . . . g.107219
AAAAGTGCGGCCACCCTGGGCATCGCCATCGAGGGTGGCGCCAACACCCGCCAGCCCCTG c.2520
K S A A T L G I A I E G G A N T R Q P L p.840
. . | 12 . . . . g.107559
CCTAGGATTGTCACTATTCAG | AGAGGCGGCTCAGCTCACAACTGTGGGCAGCTCAAGGTG c.2580
P R I V T I Q | R G G S A H N C G Q L K V p.860
. . . . . . g.107619
GGCCACGTGATTCTGGAAGTGAATGGGCTGACGCTTCGGGGCAAGGAGCACCGGGAGGCC c.2640
G H V I L E V N G L T L R G K E H R E A p.880
. . . . . . g.107679
GCCCGCATTATCGCCGAGGCCTTCAAGACTAAGGACCGTGACTACATTGACTTTCTGGTC c.2700
A R I I A E A F K T K D R D Y I D F L V p.900
. . g.107703
ACTGAGTTCAATGTGATGCTCTAG c.2724
T E F N V M L X p.907
. . . . . . g.107763
aggccaaggcctgagggcctcccaccactgcccagcccctggtcccagtccctttccacc c.*60
. . . . . . g.107823
gttggcttcatcaagctccttgcggggttggggctgcatggccagggtggcaggaagaca c.*120
. . . . . . g.107883
tcccccctccatcccagcccactggaccagaactgggagaggaagagagcaggacaaggc c.*180
. . . . . . g.107943
agacagaaggtcaggtcaggaactggtgctgtactgggtacacagtaggcgcccaggaca c.*240
. . . . . . g.108003
agtgggttgcaagacaggaagaaaggaaaaggaagggcagagtgctggtttctccaggtt c.*300
. . . . . . g.108063
gggttgggggcactgctgtcccccctccagctaggacccagcccatccccagatgcctga c.*360
. . . . . . g.108123
gcctttgtccaaagtgaggtcactcgagaattcatggacacggcccccagtcagggggca c.*420
. . . . . . g.108183
tcttgcaagacctttagtgccacaaataagcatcgagcacctccccattcacacccccat c.*480
. . . . . . g.108243
tcctcctggctccttatcccccatggtgtttattatttatttccctccccatgcccctgg c.*540
. . . . . . g.108303
ggaccccaaggccccagcttccctctgcacccccagcctatcccagaggccttgcaggtg c.*600
. . . . . . g.108363
accagcagtgtcattgtatttatatacagagcttatgactttaatttttcaataaagaaa c.*660
. g.108377
tctgaacaaggtta c.*674
(downstream sequence)
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