Canonical Allele Identifier: CA2580060955

Gene: GJA5

Linked Data

• ClinVar Variation Id: 2446332
• ClinVar RCV Id: RCV003156686

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758907del , CM000663.2:g.147758907del	GRCh38
NC_000001.10:g.147231015del , CM000663.1:g.147231015del	GRCh37
NC_000001.9:g.145697639del	NCBI36
NG_009369.2:g.19469del

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.333del MANE Select	ENSP00000463851.1:p.Glu112ArgfsTer?
ENST00000430508.1:c.333del	ENSP00000407645.1:p.Glu112ArgfsTer?
ENST00000579774.2:c.333del	ENSP00000463851.1:p.Glu112ArgfsTer?
ENST00000621517.1:c.333del	ENSP00000484552.1:p.Glu112ArgfsTer?
NM_005266.6:c.333del	NP_005257.2:p.Glu112ArgfsTer?
NM_181703.3:c.333del	NP_859054.1:p.Glu112ArgfsTer?
XM_005272951.3:c.333del	XP_005273008.1:p.Glu112ArgfsTer?
XM_011509415.1:c.333del	XP_011507717.1:p.Glu112ArgfsTer?
XR_922078.1:n.434-18654del
XR_922079.1:n.434-18654del
XM_005272951.4:c.333del	XP_005273008.1:p.Glu112ArgfsTer?
XM_017001044.1:c.333del	XP_016856533.1:p.Glu112ArgfsTer?
XR_922079.3:n.744-18654del
NM_181703.4:c.333del MANE Select	NP_859054.1:p.Glu112ArgfsTer?
NM_005266.7:c.333del	NP_005257.2:p.Glu112ArgfsTer?