Canonical Allele Identifier: CA2573332555

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 2664805
• ClinVar RCV Id: RCV003447780

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227272978_227273013del , CM000664.2:g.227272978_227273013del	GRCh38
NC_000002.11:g.228137694_228137729del , CM000664.1:g.228137694_228137729del	GRCh37
NC_000002.10:g.227845938_227845973del	NCBI36
NG_011591.1:g.113414_113449del , LRG_230:g.113414_113449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.1788_1823del (COL4A3) MANE Select	ENSP00000379823.3:p.Pro597_Gly608del
ENST00000396578.7:c.1788_1823del (COL4A3)	ENSP00000379823.3:p.Pro597_Gly608del
NM_000091.4:c.1788_1823del , LRG_230t1:c.1788_1823del (COL4A3)	NP_000082.2:p.Pro597_Gly608del
NR_102371.1:n.423-4241_423-4206del (MFF-DT)
XM_005246276.2:c.1788_1823del (COL4A3)	XP_005246333.1:p.Pro597_Gly608del
XM_005246277.2:c.1788_1823del (COL4A3)	XP_005246334.1:p.Pro597_Gly608del
XM_005246280.2:c.1788_1823del (COL4A3)	XP_005246337.1:p.Pro597_Gly608del
XM_006712245.2:c.1788_1823del (COL4A3)	XP_006712308.1:p.Pro597_Gly608del
XM_011510555.1:c.1788_1823del (COL4A3)	XP_011508857.1:p.Pro597_Gly608del
XM_011510556.1:c.549_584del (COL4A3)	XP_011508858.1:p.Pro184_Gly195del
XR_241280.2:n.1926_1961del (COL4A3)
XM_005246277.3:c.1788_1823del (COL4A3)	XP_005246334.1:p.Pro597_Gly608del
XM_005246280.3:c.1788_1823del (COL4A3)	XP_005246337.1:p.Pro597_Gly608del
XM_006712245.3:c.1788_1823del (COL4A3)	XP_006712308.1:p.Pro597_Gly608del
XM_011510556.2:c.549_584del (COL4A3)	XP_011508858.1:p.Pro184_Gly195del
XM_017003295.1:c.1788_1823del (COL4A3)	XP_016858784.1:p.Pro597_Gly608del
XR_001738601.1:n.1926_1961del (COL4A3)
XR_241280.3:n.1926_1961del (COL4A3)
NM_000091.5:c.1788_1823del (COL4A3) MANE Select	NP_000082.2:p.Pro597_Gly608del