Canonical Allele Identifier: CA146809971

Gene: GJA1

Linked Data

• dbSNP Id: rs781159058
• gnomAD v2: 6-121767639-CAAAT-C
• gnomAD v3: 6-121446493-CAAAT-C
• gnomAD v4: 6-121446493-CAAAT-C
• MyVariant Identifiers: chr6:g.121767640_121767643del (hg19) ; chr6:g.121446494_121446497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446497_121446500del , CM000668.2:g.121446497_121446500del	GRCh38
NC_000006.11:g.121767643_121767646del , CM000668.1:g.121767643_121767646del	GRCh37
NC_000006.10:g.121809342_121809345del	NCBI36
NG_008308.1:g.15899_15902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-335_-16-332del MANE Select	ENSP00000282561.3:n.-16-335_-16-332del
ENST00000647564.1:c.-16-335_-16-332del	ENSP00000497565.1:n.-16-335_-16-332del
ENST00000649003.1:c.-16-335_-16-332del	ENSP00000497283.1:n.-16-335_-16-332del
ENST00000650427.1:c.-16-335_-16-332del	ENSP00000497367.1:n.-16-335_-16-332del
ENST00000282561.3:c.-16-335_-16-332del	ENSP00000282561.3:n.-16-335_-16-332del
NM_000165.4:c.-16-335_-16-332del	NP_000156.1:n.-16-335_-16-332del
NM_000165.5:c.-16-335_-16-332del MANE Select	NP_000156.1:n.-16-335_-16-332del