Canonical Allele Identifier: CA3981644
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs748634511
ExAC: 6:121767963 CTTTG / C
gnomAD v2: 6-121767963-CTTTG-C
gnomAD v3: 6-121446817-CTTTG-C
gnomAD v4: 6-121446817-CTTTG-C
MyVariant Identifiers: chr6:g.121767964_121767967del (hg19) chr6:g.121446818_121446821del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446821_121446824del , CM000668.2:g.121446821_121446824del GRCh38
NC_000006.11:g.121767967_121767970del , CM000668.1:g.121767967_121767970del GRCh37
NC_000006.10:g.121809666_121809669del NCBI36
NG_008308.1:g.16223_16226del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-11_-16-8del MANE Select ENSP00000282561.3:n.-16-11_-16-8del
ENST00000647564.1:c.-16-11_-16-8del ENSP00000497565.1:n.-16-11_-16-8del
ENST00000649003.1:c.-16-11_-16-8del ENSP00000497283.1:n.-16-11_-16-8del
ENST00000650427.1:c.-16-11_-16-8del ENSP00000497367.1:n.-16-11_-16-8del
ENST00000282561.3:c.-16-11_-16-8del ENSP00000282561.3:n.-16-11_-16-8del
NM_000165.4:c.-16-11_-16-8del NP_000156.1:n.-16-11_-16-8del
NM_000165.5:c.-16-11_-16-8del MANE Select NP_000156.1:n.-16-11_-16-8del
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