Canonical Allele Identifier: CA2663415050

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164768-G-GCCGCTCCTGCTGGTGCTCCTGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164789_227164790insCTACCGCTCCTGCTGGTGCTCCTG , CM000664.2:g.227164789_227164790insCTACCGCTCCTGCTGGTGCTCCTG	GRCh38
NC_000002.11:g.228029505_228029506insCTACCGCTCCTGCTGGTGCTCCTG , CM000664.1:g.228029505_228029506insCTACCGCTCCTGCTGGTGCTCCTG	GRCh37
NC_000002.10:g.227737749_227737750insCTACCGCTCCTGCTGGTGCTCCTG	NCBI36
NG_011591.1:g.5225_5226insCTACCGCTCCTGCTGGTGCTCCTG , LRG_230:g.5225_5226insCTACCGCTCCTGCTGGTGCTCCTG
NG_011592.1:g.4791_4792insTAGCAGGAGCACCAGCAGGAGCGG , LRG_231:g.4791_4792insTAGCAGGAGCACCAGCAGGAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG MANE Select	ENSP00000379823.3:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
ENST00000396578.7:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	ENSP00000379823.3:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
NM_000091.4:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG , LRG_230t1:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	NP_000082.2:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_005246276.2:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_005246333.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_005246277.2:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_005246334.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_005246280.2:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_005246337.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_006712245.2:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_006712308.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_011510555.1:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_011508857.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XR_241280.2:n.201_202insCTACCGCTCCTGCTGGTGCTCCTG
XM_005246277.3:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_005246334.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_005246280.3:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_005246337.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_006712245.3:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_006712308.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XM_017003295.1:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG	XP_016858784.1:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu
XR_001738601.1:n.201_202insCTACCGCTCCTGCTGGTGCTCCTG
XR_241280.3:n.201_202insCTACCGCTCCTGCTGGTGCTCCTG
NM_000091.5:c.63_64insCTACCGCTCCTGCTGGTGCTCCTG MANE Select	NP_000082.2:p.Leu21_Ala22insLeuProLeuLeuLeuValLeuLeu