Canonical Allele Identifier: CA2680194981

Gene: GJA1

Linked Data

• gnomAD v4: 6-121446731-GAAACCGTTGGTAGTATTTTGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446732_121446753del , CM000668.2:g.121446732_121446753del	GRCh38
NC_000006.11:g.121767878_121767899del , CM000668.1:g.121767878_121767899del	GRCh37
NC_000006.10:g.121809577_121809598del	NCBI36
NG_008308.1:g.16134_16155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-100_-16-79del MANE Select	ENSP00000282561.3:n.-16-100_-16-79del
ENST00000647564.1:c.-16-100_-16-79del	ENSP00000497565.1:n.-16-100_-16-79del
ENST00000649003.1:c.-16-100_-16-79del	ENSP00000497283.1:n.-16-100_-16-79del
ENST00000650427.1:c.-16-100_-16-79del	ENSP00000497367.1:n.-16-100_-16-79del
ENST00000282561.3:c.-16-100_-16-79del	ENSP00000282561.3:n.-16-100_-16-79del
NM_000165.4:c.-16-100_-16-79del	NP_000156.1:n.-16-100_-16-79del
NM_000165.5:c.-16-100_-16-79del MANE Select	NP_000156.1:n.-16-100_-16-79del