Canonical Allele Identifier: CA818131024

Gene: GJA1

Linked Data

• dbSNP Id: rs575409588
• gnomAD v3: 6-121446631-C-CAAACA
• gnomAD v4: 6-121446631-C-CAAACA
• MyVariant Identifiers: chr6:g.121767777_121767778insAAACA (hg19) ; chr6:g.121446631_121446632insAAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446642_121446646dup , CM000668.2:g.121446642_121446646dup	GRCh38
NC_000006.11:g.121767788_121767792dup , CM000668.1:g.121767788_121767792dup	GRCh37
NC_000006.10:g.121809487_121809491dup	NCBI36
NG_008308.1:g.16044_16048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-190_-16-186dup MANE Select	ENSP00000282561.3:n.-16-190_-16-186dup
ENST00000647564.1:c.-16-190_-16-186dup	ENSP00000497565.1:n.-16-190_-16-186dup
ENST00000649003.1:c.-16-190_-16-186dup	ENSP00000497283.1:n.-16-190_-16-186dup
ENST00000650427.1:c.-16-190_-16-186dup	ENSP00000497367.1:n.-16-190_-16-186dup
ENST00000282561.3:c.-16-190_-16-186dup	ENSP00000282561.3:n.-16-190_-16-186dup
NM_000165.4:c.-16-190_-16-186dup	NP_000156.1:n.-16-190_-16-186dup
NM_000165.5:c.-16-190_-16-186dup MANE Select	NP_000156.1:n.-16-190_-16-186dup