Canonical Allele Identifier: CA2580065859

Gene: COL4A3

Linked Data

• ClinVar Variation Id: 2125295
• ClinVar RCV Id: RCV003049504

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164794del , CM000664.2:g.227164794del	GRCh38
NC_000002.11:g.228029510del , CM000664.1:g.228029510del	GRCh37
NC_000002.10:g.227737754del	NCBI36
NG_011591.1:g.5230del , LRG_230:g.5230del
NG_011592.1:g.4766del , LRG_231:g.4766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.68del MANE Select	ENSP00000379823.3:p.Ala23GlyfsTer?
ENST00000396578.7:c.68del	ENSP00000379823.3:p.Ala23GlyfsTer?
NM_000091.4:c.68del , LRG_230t1:c.68del	NP_000082.2:p.Ala23GlyfsTer?
XM_005246276.2:c.68del	XP_005246333.1:p.Ala23GlyfsTer?
XM_005246277.2:c.68del	XP_005246334.1:p.Ala23GlyfsTer?
XM_005246280.2:c.68del	XP_005246337.1:p.Ala23GlyfsTer?
XM_006712245.2:c.68del	XP_006712308.1:p.Ala23GlyfsTer?
XM_011510555.1:c.68del	XP_011508857.1:p.Ala23GlyfsTer?
XR_241280.2:n.206del
XM_005246277.3:c.68del	XP_005246334.1:p.Ala23GlyfsTer?
XM_005246280.3:c.68del	XP_005246337.1:p.Ala23GlyfsTer?
XM_006712245.3:c.68del	XP_006712308.1:p.Ala23GlyfsTer?
XM_017003295.1:c.68del	XP_016858784.1:p.Ala23GlyfsTer?
XR_001738601.1:n.206del
XR_241280.3:n.206del
NM_000091.5:c.68del MANE Select	NP_000082.2:p.Ala23GlyfsTer?