Canonical Allele Identifier: CA1659501434

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446805_121446810delinsCTTGAA , CM000668.2:g.121446805_121446810delinsCTTGAA	GRCh38
NC_000006.11:g.121767951_121767956delinsCTTGAA , CM000668.1:g.121767951_121767956delinsCTTGAA	GRCh37
NC_000006.10:g.121809650_121809655delinsCTTGAA	NCBI36
NG_008308.1:g.16207_16212delinsCTTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-27_-16-22delinsCTTGAA MANE Select	ENSP00000282561.3:n.-16-27_-16-22delinsCTTGAA
ENST00000647564.1:c.-16-27_-16-22delinsCTTGAA	ENSP00000497565.1:n.-16-27_-16-22delinsCTTGAA
ENST00000649003.1:c.-16-27_-16-22delinsCTTGAA	ENSP00000497283.1:n.-16-27_-16-22delinsCTTGAA
ENST00000650427.1:c.-16-27_-16-22delinsCTTGAA	ENSP00000497367.1:n.-16-27_-16-22delinsCTTGAA
ENST00000282561.3:c.-16-27_-16-22delinsCTTGAA	ENSP00000282561.3:n.-16-27_-16-22delinsCTTGAA
NM_000165.4:c.-16-27_-16-22delinsCTTGAA	NP_000156.1:n.-16-27_-16-22delinsCTTGAA
NM_000165.5:c.-16-27_-16-22delinsCTTGAA MANE Select	NP_000156.1:n.-16-27_-16-22delinsCTTGAA