(used for variant description)
(last modified June 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004086.2 in the COCH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008211.2, covering COCH transcript NM_004086.2.
(upstream sequence)
. . g.5020
gcggccgcgggggccttgcc c.-61
. . . . | 02 . . g.5404
ttccgcactcgggcgcagccgggtggatctcgagcag | gtgtgagcagcctatcagtcacc c.-1
. . . | 03 . . . g.5547
ATGTCCGCAGCCTGGATCCCGGCTCTCGGCCTCG | GTGTGTGTCTGCTGCTGCTGCCGGGG c.60
M S A A W I P A L G L G | V C L L L L P G p.20
. . | 04 . . . . g.8075
CCCGCGGGCAGCGAGGGAGCCG | CTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGAC c.120
P A G S E G A A | P I A I T C F T R G L D p.40
. . . . . . g.8135
ATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCT c.180
I R K E K A D V L C P G G C P L E E F S p.60
. . . . . | 05 g.9277
GTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAG | G c.240
V Y G N I V Y A S V S S I C G A A V H R | p.80
. . . . . . g.9337
GGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAAC c.300
G V I S N S G G P V R V Y S L P G R E N p.100
. . . . . . g.9397
TATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCT c.360
Y S S V D A N G I Q S Q M L S R W S A S p.120
. | 06 . . . . . g.9935
TTCACAGTAACTA | AAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACA c.420
F T V T K | G K S S T Q E A T G Q A V S T p.140
. | 07 . . . . . g.10961
GCACATCCACCAACAG | GTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAA c.480
A H P P T G | K R L K K T P E K K T G N K p.160
| 08 . . . . . . g.11111
G | ATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGA c.540
D | C K A D I A F L I D G S F N I G Q R R p.180
. . . . . . g.11171
TTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAA c.600
F N L Q K N F V G K V A L M L G I G T E p.200
. . | 09 . . . g.15049
GGACCACATGTGGGCCTTGTTCAAGCCAG | TGAACATCCCAAAATAGAATTTTACTTGAAA c.660
G P H V G L V Q A S | E H P K I E F Y L K p.220
. . . . . . g.15109
AACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGT c.720
N F T S A K D V L F A I K E V G F R G G p.240
. | 10 . . . . . g.15906
AATTCCAATACAG | GAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCT c.780
N S N T G | K A L K H T A Q K F F T V D A p.260
. . . . . . g.15966
GGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGAT c.840
G V R K G I P K V V V V F I D G W P S D p.280
. . . . . . g.16026
GACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCT c.900
D I E E A G I V A R E F G V N V F I V S p.300
. . . . . . g.16086
GTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAG c.960
V A K P I P E E L G M V Q D V T F V D K p.320
| 11 . . . . . . g.16321
| GCTGTCTGTCGGAATAATGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACA c.1020
| A V C R N N G F F S Y H M P N W F G T T p.340
. . . . . . g.16381
AAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAG c.1080
K Y V K P L V Q K L C T H E Q M M C S K p.360
. . . . . . g.16441
ACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGAT c.1140
T C Y N S V N I A F L I D G S S S V G D p.380
. . . . . . g.16501
AGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCG c.1200
S N F R L M L E F V S N I A K T F E I S p.400
. . . . . . g.16561
GACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGT c.1260
D I G A K I A A V Q F T Y D Q R T E F S p.420
. . . . . . g.16621
TTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATG c.1320
F T D Y S T K E N V L A V I R N I R Y M p.440
. . . . . . g.16681
AGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCT c.1380
S G G T A T G D A I S F T V R N V F G P p.460
. . . . . . g.16741
ATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGAT c.1440
I R E S P N K N F L V I V T D G Q S Y D p.480
. . . | 12. . . g.20104
GATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAG | GAATCACTATCTTCTCTGTTGGT c.1500
D V Q G P A A A A H D A G | I T I F S V G p.500
. . . . . . g.20164
GTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCAT c.1560
V A W A P L D D L K D M A S K P K E S H p.520
. . . . . . g.20224
GCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGC c.1620
A F F T R E F T G L E P I V S D V I R G p.540
. . . g.20257
ATTTGTAGAGATTTCTTAGAATCCCAGCAATAA c.1653
I C R D F L E S Q Q X p.550
. . . . . . g.20317
tggtaacattttgacaactgaaagaaaaagtacaaggggatccagtgtgtaaattgtatt c.*60
. . . . . . g.20377
ctcataatactgaaatgctttagcatactagaatcagatacaaaactattaagtatgtca c.*120
. . . . . . g.20437
acagccatttaggcaaataagcactcctttaaagccgctgccttctggttacaatttaca c.*180
. . . . . . g.20497
gtgtactttgttaaaaacactgctgaggcttcataatcatggctcttagaaactcaggaa c.*240
. . . . . . g.20557
agaggagataatgtggattaaaaccttaagagttctaaccatgcctactaaatgtacaga c.*300
. . . . . . g.20617
tatgcaaattccatagctcaataaaagaatctgatacttagaccaaaagcaacattcgtt c.*360
. . . . . . g.20677
ctctaaccattctgtattgattatataagcaaaatgaaaagagaaacttaaatgaacaca c.*420
. . . . . . g.20737
gctctttaacatggttcaggtacacatattttgacccaagtggatattttcttaaaacca c.*480
. . . . . . g.20797
atcaataatagctagctattactgcagactataaaatctggatatagaaaggagacctgt c.*540
. . . . . . g.20857
atcaaactgcttttgtagtgtgttttcataacaacttatgactaaaaatatcacactgaa c.*600
. . . . . . g.20917
taagagagcaggattgccaggtatttttctatttctctccttaattttatatgtatatag c.*660
. . . . . . g.20977
atatatttggcttatattctaagtcacctaagtacttaaaagttaagttggtaaagtatt c.*720
. . . . . . g.21037
tactgactgcttataaacatttaaagacaaagacatttcaaataactgcagaaaaaatat c.*780
. . . . g.21082
tgtagtttgaatatttaagcaataaaactgctagtgagttattgt c.*825
(downstream sequence)
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