Canonical Allele Identifier: CA2663415053

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164794-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164796dup , CM000664.2:g.227164796dup	GRCh38
NC_000002.11:g.228029512dup , CM000664.1:g.228029512dup	GRCh37
NC_000002.10:g.227737756dup	NCBI36
NG_011591.1:g.5232dup , LRG_230:g.5232dup
NG_011592.1:g.4765dup , LRG_231:g.4765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.70dup MANE Select	ENSP00000379823.3:p.Ala24GlyfsTer11
ENST00000396578.7:c.70dup	ENSP00000379823.3:p.Ala24GlyfsTer11
NM_000091.4:c.70dup , LRG_230t1:c.70dup	NP_000082.2:p.Ala24GlyfsTer11
XM_005246276.2:c.70dup	XP_005246333.1:p.Ala24GlyfsTer11
XM_005246277.2:c.70dup	XP_005246334.1:p.Ala24GlyfsTer11
XM_005246280.2:c.70dup	XP_005246337.1:p.Ala24GlyfsTer11
XM_006712245.2:c.70dup	XP_006712308.1:p.Ala24GlyfsTer11
XM_011510555.1:c.70dup	XP_011508857.1:p.Ala24GlyfsTer11
XR_241280.2:n.208dup
XM_005246277.3:c.70dup	XP_005246334.1:p.Ala24GlyfsTer11
XM_005246280.3:c.70dup	XP_005246337.1:p.Ala24GlyfsTer11
XM_006712245.3:c.70dup	XP_006712308.1:p.Ala24GlyfsTer11
XM_017003295.1:c.70dup	XP_016858784.1:p.Ala24GlyfsTer11
XR_001738601.1:n.208dup
XR_241280.3:n.208dup
NM_000091.5:c.70dup MANE Select	NP_000082.2:p.Ala24GlyfsTer11