Canonical Allele Identifier: CA570268882

Gene: GJA1

Linked Data

• dbSNP Id: rs1348582460
• gnomAD v2: 6-121767850-TTTTGTGAAAGAATGTTAGAAATACGTGAAACCG-T
• MyVariant Identifiers: chr6:g.121767851_121767883del (hg19) ; chr6:g.121446705_121446737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446707_121446739del , CM000668.2:g.121446707_121446739del	GRCh38
NC_000006.11:g.121767853_121767885del , CM000668.1:g.121767853_121767885del	GRCh37
NC_000006.10:g.121809552_121809584del	NCBI36
NG_008308.1:g.16109_16141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-125_-16-93del MANE Select	ENSP00000282561.3:n.-16-125_-16-93del
ENST00000647564.1:c.-16-125_-16-93del	ENSP00000497565.1:n.-16-125_-16-93del
ENST00000649003.1:c.-16-125_-16-93del	ENSP00000497283.1:n.-16-125_-16-93del
ENST00000650427.1:c.-16-125_-16-93del	ENSP00000497367.1:n.-16-125_-16-93del
ENST00000282561.3:c.-16-125_-16-93del	ENSP00000282561.3:n.-16-125_-16-93del
NM_000165.4:c.-16-125_-16-93del	NP_000156.1:n.-16-125_-16-93del
NM_000165.5:c.-16-125_-16-93del MANE Select	NP_000156.1:n.-16-125_-16-93del