(used for variant description)
(last modified May 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005266.6 in the GJA5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009369.2, covering GJA5 transcript NM_005266.6.
(upstream sequence)
. . g.5036
gaggaacaactgacaggctcaaga c.-121
. . . . . . g.5096
gcaaaaagcgtgggcagttggagaagaagcagccagagtgtgaagaagcccacggaagga c.-61
. . . | 02 . . . g.19136
aagtccagggaggaggaaaagaagcag | aagttttggcatctgttccctggctgtgccaag c.-1
. . . . . . g.19196
ATGGGCGATTGGAGCTTCCTGGGAAATTTCCTGGAGGAAGTACACAAGCACTCGACCGTG c.60
M G D W S F L G N F L E E V H K H S T V p.20
. . . . . . g.19256
GTAGGCAAGGTCTGGCTCACTGTCCTCTTCATATTCCGTATGCTCGTGCTGGGCACAGCT c.120
V G K V W L T V L F I F R M L V L G T A p.40
. . . . . . g.19316
GCTGAGTCTTCCTGGGGGGATGAGCAGGCTGATTTCCGGTGTGATACGATTCAGCCTGGC c.180
A E S S W G D E Q A D F R C D T I Q P G p.60
. . . . . . g.19376
TGCCAGAATGTCTGCTACGACCAGGCTTTCCCCATCTCCCACATTCGCTACTGGGTGCTG c.240
C Q N V C Y D Q A F P I S H I R Y W V L p.80
. . . . . . g.19436
CAGATCATCTTCGTCTCCACGCCCTCTCTGGTGTACATGGGCCACGCCATGCACACTGTG c.300
Q I I F V S T P S L V Y M G H A M H T V p.100
. . . . . . g.19496
CGCATGCAGGAGAAGCGCAAGCTACGGGAGGCCGAGAGGGCCAAAGAGGTCCGGGGCTCT c.360
R M Q E K R K L R E A E R A K E V R G S p.120
. . . . . . g.19556
GGCTCTTACGAGTACCCGGTGGCAGAGAAGGCAGAACTGTCCTGCTGGGAGGAAGGGAAT c.420
G S Y E Y P V A E K A E L S C W E E G N p.140
. . . . . . g.19616
GGAAGGATTGCCCTCCAGGGCACTCTGCTCAACACCTATGTGTGCAGCATCCTGATCCGC c.480
G R I A L Q G T L L N T Y V C S I L I R p.160
. . . . . . g.19676
ACCACCATGGAGGTGGGCTTCATTGTGGGCCAGTACTTCATCTACGGAATCTTCCTGACC c.540
T T M E V G F I V G Q Y F I Y G I F L T p.180
. . . . . . g.19736
ACCCTGCATGTCTGCCGCAGGAGTCCCTGTCCCCACCCGGTCAACTGTTACGTATCCCGG c.600
T L H V C R R S P C P H P V N C Y V S R p.200
. . . . . . g.19796
CCCACAGAGAAGAATGTCTTCATTGTCTTTATGCTGGCTGTGGCTGCACTGTCCCTCCTC c.660
P T E K N V F I V F M L A V A A L S L L p.220
. . . . . . g.19856
CTTAGCCTGGCTGAACTCTACCACCTGGGCTGGAAGAAGATCAGACAGCGATTTGTCAAA c.720
L S L A E L Y H L G W K K I R Q R F V K p.240
. . . . . . g.19916
CCGCGGCAGCACATGGCTAAGTGCCAGCTTTCTGGCCCCTCTGTGGGCATAGTCCAGAGC c.780
P R Q H M A K C Q L S G P S V G I V Q S p.260
. . . . . . g.19976
TGCACACCACCCCCCGACTTTAATCAGTGCCTGGAGAATGGCCCTGGGGGAAAATTCTTC c.840
C T P P P D F N Q C L E N G P G G K F F p.280
. . . . . . g.20036
AATCCCTTCAGCAATAATATGGCCTCCCAACAAAACACAGACAACCTGGTCACCGAGCAA c.900
N P F S N N M A S Q Q N T D N L V T E Q p.300
. . . . . . g.20096
GTACGAGGTCAGGAGCAGACTCCTGGGGAAGGTTTCATCCAGGTTCGTTATGGCCAGAAG c.960
V R G Q E Q T P G E G F I Q V R Y G Q K p.320
. . . . . . g.20156
CCTGAGGTGCCCAATGGAGTCTCACCAGGTCACCGCCTTCCCCATGGCTATCATAGTGAC c.1020
P E V P N G V S P G H R L P H G Y H S D p.340
. . . . . g.20213
AAGCGACGTCTTAGTAAGGCCAGCAGCAAGGCAAGGTCAGATGACCTATCAGTGTGA c.1077
K R R L S K A S S K A R S D D L S V X p.358
. . . . . . g.20273
ccctcctttatgggaggatcaggaccaggtgggaacaaaggaggctcagagaggaaagac c.*60
. . . . . . g.20333
gtgtcccttctgaactgatgctttctcactgtcatcactgcttggctcctttgagccccg c.*120
. . . . . . g.20393
ggtctcaatgacgttgctcattaattctagaaactataaccagggctctgggatagtaag c.*180
. . . . . . g.20453
agaggtgacaacccacccagactgcagttccctccccaccctctacccagtatacgaagc c.*240
. . . . . . g.20513
ctttcagattactcatgaaacagggtagagggaaagaagggaagcatggcaaaagctggc c.*300
. . . . . . g.20573
ctggaagggatagccagagggatagaatgactctctctctacataccagcagcataccaa c.*360
. . . . . . g.20633
atgcgttctctaagttcctacctccttgacctgatcaccctccctcctccaaggaagagc c.*420
. . . . . . g.20693
tcaaagttcccagccaatagacagcatgaatcaaggaacttgcattatatgtgctcttga c.*480
. . . . . . g.20753
atctgttgtctccatggaccattcctcggagtagtggtgagatggccttgggttgccctt c.*540
. . . . . . g.20813
ggcttctcctccctctactcagccttaaaaagggcttcttggaactttaccagcagcctc c.*600
. . . . . . g.20873
agctttacaaatgccttggtatgtacctctggcaaatgccctggtatgtacctctggcaa c.*660
. . . . . . g.20933
atgccccaccttggtgatgttgcaacctttccttctgctagggtgtacacctagcctgtg c.*720
. . . . . . g.20993
caggtgtcagccctgctagggagtcactgtacacacaaactctactggaattcctgccaa c.*780
. . . . . . g.21053
catctgtcaccctgcagctcctttacagttcaatccaatgatagaaaccatcccttccct c.*840
. . . . . . g.21113
ttctcccttggctgttcacccagccattccctgaaggccttaccaacaggaatatccaag c.*900
. . . . . . g.21173
aagctgttgtcctctctcgaaccctgaccagatcatcagccactgaggccagtggaattt c.*960
. . . . . . g.21233
ccccaggccttgttaaaacaaagaaagcattgtacttctcagattccccttgtggaaaaa c.*1020
. . . . . . g.21293
aaaattctgctgtgaagatgaaaataaaaatggagagaaaacactggaaaactattttcc c.*1080
. . . . . . g.21353
cctcctatttacttcctttgctgactgccaacttagtgccaagaggaggtgtgatgacag c.*1140
. . . . . . g.21413
ctatggaggcccccagatctctctctcctggaggctttagcaggggcaaggaaatagtag c.*1200
. . . . . . g.21473
gggaatctccagctctcttggcagggcctttatttaaagagcgcagagattcctatgtct c.*1260
. . . . . . g.21533
ccctagtgcccctaatgagactgccaagtgggggctgtagaaaagccttgccttccccag c.*1320
. . . . . . g.21593
ggattggcctggtctctgtattcactggatccataatgggttgctgttgttttggatgaa c.*1380
. . . . . . g.21653
ggtaaacgatgcttggaattggaaactgagacttatagagggattattacattattaaaa c.*1440
. . . . . . g.21713
tgcacgtgtgtgtgtgtgtgggtgctgatgggatgggtaaaggcttggggagtcctgaaa c.*1500
. . . . . . g.21773
taaggaaaggaaaccacagagaaacttgtgtcttcctgctctcctctccggctgcctggc c.*1560
. . . . . . g.21833
agttattaacctaaacagatagccacaagaggttgggacagaggagggtaaaggctcaga c.*1620
. . . . . . g.21893
aggaggttcaacctctgactcacctgcccatctctgggccctctgctgacacttggatgc c.*1680
. . . . . . g.21953
tattgttgggtggaaagataaatgagagtggagaggtggaggaaagtgactaggatgcca c.*1740
. . . . . . g.22013
tttaggaaggaatgtctgatcatcccgggtccctggaggggacaccttttaatctattgc c.*1800
. . . . . . g.22073
ctagcattaatattttctctccttctatctctgaaatgttttatgaaatgagtgttcttg c.*1860
. . . . . . g.22133
aattagaaattctgtgggatcaatctttgatggtgagggttttagaaaggaaaaatatag c.*1920
. . . . g.22176
taaaatgtgtaatttgtcttaataaaatctatctctacatcta c.*1963
(downstream sequence)
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