Canonical Allele Identifier: CA452033583

Gene: GJA1

Linked Data

• dbSNP Id: rs1215395223
• gnomAD v3: 6-121446817-CTT-C
• gnomAD v4: 6-121446817-CTT-C
• MyVariant Identifiers: chr6:g.121767964_121767965del (hg19) ; chr6:g.121446818_121446819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446819_121446820del , CM000668.2:g.121446819_121446820del	GRCh38
NC_000006.11:g.121767965_121767966del , CM000668.1:g.121767965_121767966del	GRCh37
NC_000006.10:g.121809664_121809665del	NCBI36
NG_008308.1:g.16221_16222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-13_-16-12del MANE Select	ENSP00000282561.3:n.-16-13_-16-12del
ENST00000647564.1:c.-16-13_-16-12del	ENSP00000497565.1:n.-16-13_-16-12del
ENST00000649003.1:c.-16-13_-16-12del	ENSP00000497283.1:n.-16-13_-16-12del
ENST00000650427.1:c.-16-13_-16-12del	ENSP00000497367.1:n.-16-13_-16-12del
ENST00000282561.3:c.-16-13_-16-12del	ENSP00000282561.3:n.-16-13_-16-12del
NM_000165.4:c.-16-13_-16-12del	NP_000156.1:n.-16-13_-16-12del
NM_000165.5:c.-16-13_-16-12del MANE Select	NP_000156.1:n.-16-13_-16-12del