Canonical Allele Identifier: CA818131071

Gene: GJA1

Linked Data

• dbSNP Id: rs1475341950
• MyVariant Identifiers: chr6:g.121767828_121767829insA (hg19) ; chr6:g.121446682_121446683insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446683dup , CM000668.2:g.121446683dup	GRCh38
NC_000006.11:g.121767829dup , CM000668.1:g.121767829dup	GRCh37
NC_000006.10:g.121809528dup	NCBI36
NG_008308.1:g.16085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-149dup MANE Select	ENSP00000282561.3:n.-16-149dup
ENST00000647564.1:c.-16-149dup	ENSP00000497565.1:n.-16-149dup
ENST00000649003.1:c.-16-149dup	ENSP00000497283.1:n.-16-149dup
ENST00000650427.1:c.-16-149dup	ENSP00000497367.1:n.-16-149dup
ENST00000282561.3:c.-16-149dup	ENSP00000282561.3:n.-16-149dup
NM_000165.4:c.-16-149dup	NP_000156.1:n.-16-149dup
NM_000165.5:c.-16-149dup MANE Select	NP_000156.1:n.-16-149dup