Canonical Allele Identifier: CA1659501314

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446520_121446521delinsAG , CM000668.2:g.121446520_121446521delinsAG	GRCh38
NC_000006.11:g.121767666_121767667delinsAG , CM000668.1:g.121767666_121767667delinsAG	GRCh37
NC_000006.10:g.121809365_121809366delinsAG	NCBI36
NG_008308.1:g.15922_15923delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-312_-16-311delinsAG MANE Select	ENSP00000282561.3:n.-16-312_-16-311delinsAG
ENST00000647564.1:c.-16-312_-16-311delinsAG	ENSP00000497565.1:n.-16-312_-16-311delinsAG
ENST00000649003.1:c.-16-312_-16-311delinsAG	ENSP00000497283.1:n.-16-312_-16-311delinsAG
ENST00000650427.1:c.-16-312_-16-311delinsAG	ENSP00000497367.1:n.-16-312_-16-311delinsAG
ENST00000282561.3:c.-16-312_-16-311delinsAG	ENSP00000282561.3:n.-16-312_-16-311delinsAG
NM_000165.4:c.-16-312_-16-311delinsAG	NP_000156.1:n.-16-312_-16-311delinsAG
NM_000165.5:c.-16-312_-16-311delinsAG MANE Select	NP_000156.1:n.-16-312_-16-311delinsAG