Canonical Allele Identifier: CA1093869919

Gene: GJA1

Linked Data

• dbSNP Id: rs1773895969
• gnomAD v3: 6-121446728-CGT-C
• gnomAD v4: 6-121446728-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446730_121446731del , CM000668.2:g.121446730_121446731del	GRCh38
NC_000006.11:g.121767876_121767877del , CM000668.1:g.121767876_121767877del	GRCh37
NC_000006.10:g.121809575_121809576del	NCBI36
NG_008308.1:g.16132_16133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-102_-16-101del MANE Select	ENSP00000282561.3:n.-16-102_-16-101del
ENST00000647564.1:c.-16-102_-16-101del	ENSP00000497565.1:n.-16-102_-16-101del
ENST00000649003.1:c.-16-102_-16-101del	ENSP00000497283.1:n.-16-102_-16-101del
ENST00000650427.1:c.-16-102_-16-101del	ENSP00000497367.1:n.-16-102_-16-101del
ENST00000282561.3:c.-16-102_-16-101del	ENSP00000282561.3:n.-16-102_-16-101del
NM_000165.4:c.-16-102_-16-101del	NP_000156.1:n.-16-102_-16-101del
NM_000165.5:c.-16-102_-16-101del MANE Select	NP_000156.1:n.-16-102_-16-101del