(used for variant description)
(last modified January 22, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_004403.2 in the DFNA5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering DFNA5 transcript NM_004403.2.
(upstream sequence)
. . . g.5033
aggagcttagagtggagtttacaggaatgaatc c.-301
. . . . . . g.5093
actgattagcggcaggcctaagtgtgggcactgtcgcaccacacacccagatactactcc c.-241
. . . . . . g.5153
aggcacgggcattaggggctcccacaggctggacaggccttggactttcctggttgaacc c.-181
. . . . . . g.5213
gtgaggccgcggtgtcagtccacactccactgtgggtggcgggttcggccccgcgaggag c.-121
. . . . . . g.5273
gcgccgctctcaaaccccacggtcccgcgcagcgaagaggcgaggcggccgcggaaggca c.-61
. . . . . | 02 . g.13246
ggcgcagcccactcttcccgagaggccccgacatctcccgg | ataatctggagctttcaaa c.-1
. . . . . . g.13306
ATGTTTGCCAAAGCAACCAGGAATTTTCTTAGAGAAGTTGATGCTGATGGTGACCTGATT c.60
M F A K A T R N F L R E V D A D G D L I p.20
. . . . . . g.13366
GCAGTATCAAATCTGAATGACTCTGATAAGTTACAGCTTCTAAGTCTGGTGACAAAAAAG c.120
A V S N L N D S D K L Q L L S L V T K K p.40
. . . . . . g.13426
AAGAGATTCTGGTGCTGGCAGAGACCCAAGTACCAGTTTTTATCCCTCACCCTTGGCGAT c.180
K R F W C W Q R P K Y Q F L S L T L G D p.60
. . . | 03 . . . g.18295
GTACTCATAGAAGACCAATTTCCGAGTCCAG | TGGTCGTGGAGTCGGACTTTGTGAAATAC c.240
V L I E D Q F P S P V | V V E S D F V K Y p.80
. . . . . . g.18355
GAGGGCAAGTTTGCAAACCACGTGAGTGGAACCCTGGAGACTGCACTGGGGAAGGTCAAG c.300
E G K F A N H V S G T L E T A L G K V K p.100
. . . . . . g.18415
CTGAACCTGGGGGGCAGCAGCCGCGTAGAGAGCCAGTCTTCATTTGGAACCCTGAGGAAG c.360
L N L G G S S R V E S Q S S F G T L R K p.120
. . . . | 04 . . g.43818
CAGGAGGTGGATTTGCAGCAGCTCATCAGAGACTCTGCCGAGAG | AACAATAAATCTGAGA c.420
Q E V D L Q Q L I R D S A E R | T I N L R p.140
. . . . . . g.43878
AACCCTGTGCTCCAGCAGGTGCTGGAAGGAAGGAATGAGGTCCTGTGCGTTTTGACACAG c.480
N P V L Q Q V L E G R N E V L C V L T Q p.160
. . . . . . g.43938
AAGATCACGACGATGCAGAAGTGTGTGATCTCTGAGCACATGCAGGTCGAGGAGAAGTGT c.540
K I T T M Q K C V I S E H M Q V E E K C p.180
. . . | 05 . . . g.45670
GGTGGCATCGTGGGCATCCAGACCAAGACGGTGCAG | GTGTCAGCGACGGAGGATGGGAAT c.600
G G I V G I Q T K T V Q | V S A T E D G N p.200
. . . . . . g.45730
GTCACCAAGGACTCCAACGTGGTGCTGGAGATCCCAGCTGCCACCACCATTGCCTACGGT c.660
V T K D S N V V L E I P A A T T I A Y G p.220
. . . | 06. . . g.52655
GTCATTGAGTTATACGTGAAACTGGACGGCCAGTTCG | AGTTCTGCCTTCTCCGAGGGAAG c.720
V I E L Y V K L D G Q F E | F C L L R G K p.240
. . . . . . g.52715
CAAGGTGGCTTCGAGAACAAGAAGAGAATTGACTCTGTCTACCTGGACCCCCTGGTCTTT c.780
Q G G F E N K K R I D S V Y L D P L V F p.260
. . . . . . g.52775
CGAGAGTTTGCATTCATAGACATGCCAGATGCTGCGCATGGGATATCTTCCCAGGATGGA c.840
R E F A F I D M P D A A H G I S S Q D G p.280
. . | 07 . . . . g.54804
CCATTAAGTGTTTTAAAGCAAG | CGACCCTGCTCCTGGAGAGGAATTTCCATCCATTTGCG c.900
P L S V L K Q A | T L L L E R N F H P F A p.300
. . . . . . g.54864
GAGCTGCCTGAGCCACAACAGACAGCTTTGAGTGACATCTTCCAGGCGGTCCTATTTGAT c.960
E L P E P Q Q T A L S D I F Q A V L F D p.320
. . . | 08 . . . g.56674
GATGAACTACTCATGGTCCTGGAACCAGTG | TGCGATGACCTGGTCAGCGGCCTCTCGCCC c.1020
D E L L M V L E P V | C D D L V S G L S P p.340
. . . . . . g.56734
ACAGTGGCGGTGCTGGGGGAGCTGAAGCCCCGGCAGCAGCAGGACCTTGTGGCCTTCCTG c.1080
T V A V L G E L K P R Q Q Q D L V A F L p.360
. . . . . . g.56794
CAGCTGGTGGGGTGCAGCTTACAGGGTGGGTGTCCGGGCCCCGAGGATGCAGGCAGCAAG c.1140
Q L V G C S L Q G G C P G P E D A G S K p.380
. . . . | 09 . . g.60204
CAGCTGTTTATGACAGCCTACTTCTTGGTCAGTGCCCTCGCAG | AAATGCCAGATAGCGCA c.1200
Q L F M T A Y F L V S A L A E | M P D S A p.400
. . . . . | 10. g.63764
GCAGCTCTGCTGGGCACTTGCTGCAAACTCCAGATCATTCCCACACTGTGCCACTTG | CTT c.1260
A A L L G T C C K L Q I I P T L C H L | L p.420
. . . . . . g.63824
CGTGCTCTGTCTGATGATGGAGTATCTGATCTTGAAGACCCAACCTTGACTCCCCTGAAA c.1320
R A L S D D G V S D L E D P T L T P L K p.440
. . . . . . g.63884
GATACAGAAAGGTTTGGGATTGTGCAGCGCTTGTTTGCCTCAGCTGACATTAGTCTGGAG c.1380
D T E R F G I V Q R L F A S A D I S L E p.460
. . . . . . g.63944
AGACTGAAGTCATCTGTGAAAGCTGTCATTCTGAAGGACTCTAAAGTCTTCCCACTGCTT c.1440
R L K S S V K A V I L K D S K V F P L L p.480
. . . . . g.63995
CTTTGTATAACCCTGAATGGACTCTGTGCTTTAGGCAGAGAACATTCATGA c.1491
L C I T L N G L C A L G R E H S X p.496
. . . . . . g.64055
tgtcatatgtgaactagaagtacgtgttactggccaaggctatttttcagaactgttaaa c.*60
. . . . . . g.64115
ggtcatatgcacgttaaaagttgaccaatgaaatgaatttacagaacagtttaagaagtg c.*120
. . . . . . g.64175
gtgacattttgcatgatgaatgacctgacttttagccaccaggtactctttaaacagttt c.*180
. . . . . . g.64235
tccttatcagaggccctcctgtgctggtgacccagcatctgagttaggttccagcatgta c.*240
. . . . . . g.64295
aagagctgggagggcggagaattcttagcatacattcagacgttttttctgcacaataat c.*300
. . . . . . g.64355
aagtccatctgtcacttgcattccactttttgttacatagaaagagtctgaccctttaat c.*360
. . . . . . g.64415
ccaaaaggtctttttacattgtgaatgctgtgggaaggcaatttctctgcacacaagagg c.*420
. . . . . . g.64475
ctacgttttggaagtgatgtatgttatttgatgactgaaaatgaactgtaaatgctccta c.*480
. . . . . . g.64535
gagtatattcctctgctgaacaaaattaaacttcaaaaaaatctaacagtaacacacccc c.*540
. . . . . . g.64595
tgcttgggaccctagctatatgcattttatgtgaccttgccatgcttcagtgaacatact c.*600
. . . . . . g.64655
aattctatgtctagcacatgttgatttcctatgtattctgggtattctattaaaggaaac c.*660
. g.64666
tttgaactatg c.*671
(downstream sequence)
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