Canonical Allele Identifier: CA1659501328
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1773892540

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446556_121446581del , CM000668.2:g.121446556_121446581del GRCh38
NC_000006.11:g.121767702_121767727del , CM000668.1:g.121767702_121767727del GRCh37
NC_000006.10:g.121809401_121809426del NCBI36
NG_008308.1:g.15958_15983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-276_-16-251del MANE Select ENSP00000282561.3:n.-16-276_-16-251del
ENST00000647564.1:c.-16-276_-16-251del ENSP00000497565.1:n.-16-276_-16-251del
ENST00000649003.1:c.-16-276_-16-251del ENSP00000497283.1:n.-16-276_-16-251del
ENST00000650427.1:c.-16-276_-16-251del ENSP00000497367.1:n.-16-276_-16-251del
ENST00000282561.3:c.-16-276_-16-251del ENSP00000282561.3:n.-16-276_-16-251del
NM_000165.4:c.-16-276_-16-251del NP_000156.1:n.-16-276_-16-251del
NM_000165.5:c.-16-276_-16-251del MANE Select NP_000156.1:n.-16-276_-16-251del