Canonical Allele Identifier: CA645529440

Gene: COL4A3 MFF-DT

Linked Data

• COSMIC: COSM5950049

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311895del , CM000664.2:g.227311895del	GRCh38
NC_000002.11:g.228176611del , CM000664.1:g.228176611del	GRCh37
NC_000002.10:g.227884855del	NCBI36
NG_011591.1:g.152331del , LRG_230:g.152331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2296del (COL4A3)
ENST00000682257.1:n.260del (COL4A3)
ENST00000682970.1:n.336del (COL4A3)
ENST00000683077.1:n.1977del (COL4A3)
ENST00000684413.1:n.2605del (COL4A3)
ENST00000684724.1:n.459del (COL4A3)
ENST00000396578.8:c.*25del (COL4A3) MANE Select	ENSP00000379823.3:n.*25del
ENST00000643388.1:c.551del (COL4A3)	ENSP00000495177.1:p.Leu184HisfsTer5
ENST00000396578.7:c.*25del (COL4A3)	ENSP00000379823.3:n.*25del
NM_000091.4:c.*25del , LRG_230t1:c.*25del (COL4A3)	NP_000082.2:n.*25del
NR_102371.1:n.48-6240del (MFF-DT)
XM_005246276.2:c.4865del (COL4A3)	XP_005246333.1:p.Leu1622HisfsTer5
XM_005246277.2:c.*25del (COL4A3)	XP_005246334.1:n.*25del
XM_011510556.1:c.*25del (COL4A3)	XP_011508858.1:n.*25del
XR_241280.2:n.4998del (COL4A3)
XM_005246277.3:c.*25del (COL4A3)	XP_005246334.1:n.*25del
XM_011510556.2:c.*25del (COL4A3)	XP_011508858.1:n.*25del
XR_241280.3:n.4998del (COL4A3)
NM_000091.5:c.*25del (COL4A3) MANE Select	NP_000082.2:n.*25del