Canonical Allele Identifier: CA1659501431

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446797_121446799delinsCTG , CM000668.2:g.121446797_121446799delinsCTG	GRCh38
NC_000006.11:g.121767943_121767945delinsCTG , CM000668.1:g.121767943_121767945delinsCTG	GRCh37
NC_000006.10:g.121809642_121809644delinsCTG	NCBI36
NG_008308.1:g.16199_16201delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-35_-16-33delinsCTG MANE Select	ENSP00000282561.3:n.-16-35_-16-33delinsCTG
ENST00000647564.1:c.-16-35_-16-33delinsCTG	ENSP00000497565.1:n.-16-35_-16-33delinsCTG
ENST00000649003.1:c.-16-35_-16-33delinsCTG	ENSP00000497283.1:n.-16-35_-16-33delinsCTG
ENST00000650427.1:c.-16-35_-16-33delinsCTG	ENSP00000497367.1:n.-16-35_-16-33delinsCTG
ENST00000282561.3:c.-16-35_-16-33delinsCTG	ENSP00000282561.3:n.-16-35_-16-33delinsCTG
NM_000165.4:c.-16-35_-16-33delinsCTG	NP_000156.1:n.-16-35_-16-33delinsCTG
NM_000165.5:c.-16-35_-16-33delinsCTG MANE Select	NP_000156.1:n.-16-35_-16-33delinsCTG