Canonical Allele Identifier: CA2663415117

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164879-C-CGTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164880_227164881insTGGAG , CM000664.2:g.227164880_227164881insTGGAG	GRCh38
NC_000002.11:g.228029596_228029597insTGGAG , CM000664.1:g.228029596_228029597insTGGAG	GRCh37
NC_000002.10:g.227737840_227737841insTGGAG	NCBI36
NG_011591.1:g.5316_5317insTGGAG , LRG_230:g.5316_5317insTGGAG
NG_011592.1:g.4680_4681insTCCAC , LRG_231:g.4680_4681insTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+67_87+68insTGGAG MANE Select	ENSP00000379823.3:n.87+67_87+68insTGGAG
ENST00000396578.7:c.87+67_87+68insTGGAG	ENSP00000379823.3:n.87+67_87+68insTGGAG
NM_000091.4:c.87+67_87+68insTGGAG , LRG_230t1:c.87+67_87+68insTGGAG	NP_000082.2:n.87+67_87+68insTGGAG
XM_005246276.2:c.87+67_87+68insTGGAG	XP_005246333.1:n.87+67_87+68insTGGAG
XM_005246277.2:c.87+67_87+68insTGGAG	XP_005246334.1:n.87+67_87+68insTGGAG
XM_005246280.2:c.87+67_87+68insTGGAG	XP_005246337.1:n.87+67_87+68insTGGAG
XM_006712245.2:c.87+67_87+68insTGGAG	XP_006712308.1:n.87+67_87+68insTGGAG
XM_011510555.1:c.87+67_87+68insTGGAG	XP_011508857.1:n.87+67_87+68insTGGAG
XR_241280.2:n.225+67_225+68insTGGAG
XM_005246277.3:c.87+67_87+68insTGGAG	XP_005246334.1:n.87+67_87+68insTGGAG
XM_005246280.3:c.87+67_87+68insTGGAG	XP_005246337.1:n.87+67_87+68insTGGAG
XM_006712245.3:c.87+67_87+68insTGGAG	XP_006712308.1:n.87+67_87+68insTGGAG
XM_017003295.1:c.87+67_87+68insTGGAG	XP_016858784.1:n.87+67_87+68insTGGAG
XR_001738601.1:n.225+67_225+68insTGGAG
XR_241280.3:n.225+67_225+68insTGGAG
NM_000091.5:c.87+67_87+68insTGGAG MANE Select	NP_000082.2:n.87+67_87+68insTGGAG