Canonical Allele Identifier: CA1659501407

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446728_121446730delinsCGT , CM000668.2:g.121446728_121446730delinsCGT	GRCh38
NC_000006.11:g.121767874_121767876delinsCGT , CM000668.1:g.121767874_121767876delinsCGT	GRCh37
NC_000006.10:g.121809573_121809575delinsCGT	NCBI36
NG_008308.1:g.16130_16132delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-104_-16-102delinsCGT MANE Select	ENSP00000282561.3:n.-16-104_-16-102delinsCGT
ENST00000647564.1:c.-16-104_-16-102delinsCGT	ENSP00000497565.1:n.-16-104_-16-102delinsCGT
ENST00000649003.1:c.-16-104_-16-102delinsCGT	ENSP00000497283.1:n.-16-104_-16-102delinsCGT
ENST00000650427.1:c.-16-104_-16-102delinsCGT	ENSP00000497367.1:n.-16-104_-16-102delinsCGT
ENST00000282561.3:c.-16-104_-16-102delinsCGT	ENSP00000282561.3:n.-16-104_-16-102delinsCGT
NM_000165.4:c.-16-104_-16-102delinsCGT	NP_000156.1:n.-16-104_-16-102delinsCGT
NM_000165.5:c.-16-104_-16-102delinsCGT MANE Select	NP_000156.1:n.-16-104_-16-102delinsCGT