Canonical Allele Identifier: CA645528643

Gene: GJA5

Linked Data

• gnomAD v4: 1-147759099-T-TC
• COSMIC: COSM265569

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759105dup , CM000663.2:g.147759105dup	GRCh38
NC_000001.10:g.147231213dup , CM000663.1:g.147231213dup	GRCh37
NC_000001.9:g.145697837dup	NCBI36
NG_009369.2:g.19275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.139dup MANE Select	ENSP00000463851.1:p.Asp47GlyfsTer2
ENST00000430508.1:c.139dup	ENSP00000407645.1:p.Asp47GlyfsTer2
ENST00000579774.2:c.139dup	ENSP00000463851.1:p.Asp47GlyfsTer2
ENST00000621517.1:c.139dup	ENSP00000484552.1:p.Asp47GlyfsTer2
NM_005266.6:c.139dup	NP_005257.2:p.Asp47GlyfsTer2
NM_181703.3:c.139dup	NP_859054.1:p.Asp47GlyfsTer2
XM_005272951.3:c.139dup	XP_005273008.1:p.Asp47GlyfsTer2
XM_011509415.1:c.139dup	XP_011507717.1:p.Asp47GlyfsTer2
XR_922078.1:n.434-18456dup
XR_922079.1:n.434-18456dup
XM_005272951.4:c.139dup	XP_005273008.1:p.Asp47GlyfsTer2
XM_017001044.1:c.139dup	XP_016856533.1:p.Asp47GlyfsTer2
XR_922079.3:n.744-18456dup
NM_181703.4:c.139dup MANE Select	NP_859054.1:p.Asp47GlyfsTer2
NM_005266.7:c.139dup	NP_005257.2:p.Asp47GlyfsTer2