Canonical Allele Identifier: CA2514430347

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446639del , CM000668.2:g.121446639del	GRCh38
NC_000006.11:g.121767785del , CM000668.1:g.121767785del	GRCh37
NC_000006.10:g.121809484del	NCBI36
NG_008308.1:g.16041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-193del MANE Select	ENSP00000282561.3:n.-16-193del
ENST00000647564.1:c.-16-193del	ENSP00000497565.1:n.-16-193del
ENST00000649003.1:c.-16-193del	ENSP00000497283.1:n.-16-193del
ENST00000650427.1:c.-16-193del	ENSP00000497367.1:n.-16-193del
ENST00000282561.3:c.-16-193del	ENSP00000282561.3:n.-16-193del
NM_000165.4:c.-16-193del	NP_000156.1:n.-16-193del
NM_000165.5:c.-16-193del MANE Select	NP_000156.1:n.-16-193del