Canonical Allele Identifier: CA1659501670

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447490_121447499delinsGTGGTGTCCT , CM000668.2:g.121447490_121447499delinsGTGGTGTCCT	GRCh38
NC_000006.11:g.121768636_121768645delinsGTGGTGTCCT , CM000668.1:g.121768636_121768645delinsGTGGTGTCCT	GRCh37
NC_000006.10:g.121810335_121810344delinsGTGGTGTCCT	NCBI36
NG_008308.1:g.16892_16901delinsGTGGTGTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.643_652delinsGTGGTGTCCT MANE Select	ENSP00000282561.3:p.Val215=
ENST00000647564.1:c.643_652delinsGTGGTGTCCT	ENSP00000497565.1:p.Val215=
ENST00000649003.1:c.643_652delinsGTGGTGTCCT	ENSP00000497283.1:p.Val215=
ENST00000650427.1:c.643_652delinsGTGGTGTCCT	ENSP00000497367.1:p.Val215=
ENST00000282561.3:c.643_652delinsGTGGTGTCCT	ENSP00000282561.3:p.Val215=
NM_000165.4:c.643_652delinsGTGGTGTCCT	NP_000156.1:p.Val215=
NM_000165.5:c.643_652delinsGTGGTGTCCT MANE Select	NP_000156.1:p.Val215=