Canonical Allele Identifier: CA645528644

Gene: GJA5

Linked Data

• COSMIC: COSM5446306

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759114_147759115del , CM000663.2:g.147759114_147759115del	GRCh38
NC_000001.10:g.147231222_147231223del , CM000663.1:g.147231222_147231223del	GRCh37
NC_000001.9:g.145697846_145697847del	NCBI36
NG_009369.2:g.19261_19262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.125_126del MANE Select	ENSP00000463851.1:p.Glu42ValfsTer6
ENST00000430508.1:c.125_126del	ENSP00000407645.1:p.Glu42ValfsTer6
ENST00000579774.2:c.125_126del	ENSP00000463851.1:p.Glu42ValfsTer6
ENST00000621517.1:c.125_126del	ENSP00000484552.1:p.Glu42ValfsTer6
NM_005266.6:c.125_126del	NP_005257.2:p.Glu42ValfsTer6
NM_181703.3:c.125_126del	NP_859054.1:p.Glu42ValfsTer6
XM_005272951.3:c.125_126del	XP_005273008.1:p.Glu42ValfsTer6
XM_011509415.1:c.125_126del	XP_011507717.1:p.Glu42ValfsTer6
XR_922078.1:n.434-18447_434-18446del
XR_922079.1:n.434-18447_434-18446del
XM_005272951.4:c.125_126del	XP_005273008.1:p.Glu42ValfsTer6
XM_017001044.1:c.125_126del	XP_016856533.1:p.Glu42ValfsTer6
XR_922079.3:n.744-18447_744-18446del
NM_181703.4:c.125_126del MANE Select	NP_859054.1:p.Glu42ValfsTer6
NM_005266.7:c.125_126del	NP_005257.2:p.Glu42ValfsTer6