Canonical Allele Identifier: CA1659501442
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446817_121446819delinsCTT , CM000668.2:g.121446817_121446819delinsCTT GRCh38
NC_000006.11:g.121767963_121767965delinsCTT , CM000668.1:g.121767963_121767965delinsCTT GRCh37
NC_000006.10:g.121809662_121809664delinsCTT NCBI36
NG_008308.1:g.16219_16221delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-15_-16-13delinsCTT MANE Select ENSP00000282561.3:n.-16-15_-16-13delinsCTT
ENST00000647564.1:c.-16-15_-16-13delinsCTT ENSP00000497565.1:n.-16-15_-16-13delinsCTT
ENST00000649003.1:c.-16-15_-16-13delinsCTT ENSP00000497283.1:n.-16-15_-16-13delinsCTT
ENST00000650427.1:c.-16-15_-16-13delinsCTT ENSP00000497367.1:n.-16-15_-16-13delinsCTT
ENST00000282561.3:c.-16-15_-16-13delinsCTT ENSP00000282561.3:n.-16-15_-16-13delinsCTT
NM_000165.4:c.-16-15_-16-13delinsCTT NP_000156.1:n.-16-15_-16-13delinsCTT
NM_000165.5:c.-16-15_-16-13delinsCTT MANE Select NP_000156.1:n.-16-15_-16-13delinsCTT