Canonical Allele Identifier: CA1659501341

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446581_121446583delinsTAA , CM000668.2:g.121446581_121446583delinsTAA	GRCh38
NC_000006.11:g.121767727_121767729delinsTAA , CM000668.1:g.121767727_121767729delinsTAA	GRCh37
NC_000006.10:g.121809426_121809428delinsTAA	NCBI36
NG_008308.1:g.15983_15985delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-251_-16-249delinsTAA MANE Select	ENSP00000282561.3:n.-16-251_-16-249delinsTAA
ENST00000647564.1:c.-16-251_-16-249delinsTAA	ENSP00000497565.1:n.-16-251_-16-249delinsTAA
ENST00000649003.1:c.-16-251_-16-249delinsTAA	ENSP00000497283.1:n.-16-251_-16-249delinsTAA
ENST00000650427.1:c.-16-251_-16-249delinsTAA	ENSP00000497367.1:n.-16-251_-16-249delinsTAA
ENST00000282561.3:c.-16-251_-16-249delinsTAA	ENSP00000282561.3:n.-16-251_-16-249delinsTAA
NM_000165.4:c.-16-251_-16-249delinsTAA	NP_000156.1:n.-16-251_-16-249delinsTAA
NM_000165.5:c.-16-251_-16-249delinsTAA MANE Select	NP_000156.1:n.-16-251_-16-249delinsTAA