Canonical Allele Identifier: CA1659501382
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446686_121446688delinsAAG , CM000668.2:g.121446686_121446688delinsAAG GRCh38
NC_000006.11:g.121767832_121767834delinsAAG , CM000668.1:g.121767832_121767834delinsAAG GRCh37
NC_000006.10:g.121809531_121809533delinsAAG NCBI36
NG_008308.1:g.16088_16090delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-146_-16-144delinsAAG MANE Select ENSP00000282561.3:n.-16-146_-16-144delinsAAG
ENST00000647564.1:c.-16-146_-16-144delinsAAG ENSP00000497565.1:n.-16-146_-16-144delinsAAG
ENST00000649003.1:c.-16-146_-16-144delinsAAG ENSP00000497283.1:n.-16-146_-16-144delinsAAG
ENST00000650427.1:c.-16-146_-16-144delinsAAG ENSP00000497367.1:n.-16-146_-16-144delinsAAG
ENST00000282561.3:c.-16-146_-16-144delinsAAG ENSP00000282561.3:n.-16-146_-16-144delinsAAG
NM_000165.4:c.-16-146_-16-144delinsAAG NP_000156.1:n.-16-146_-16-144delinsAAG
NM_000165.5:c.-16-146_-16-144delinsAAG MANE Select NP_000156.1:n.-16-146_-16-144delinsAAG