Canonical Allele Identifier: CA2577265711

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311985del , CM000664.2:g.227311985del	GRCh38
NC_000002.11:g.228176701del , CM000664.1:g.228176701del	GRCh37
NC_000002.10:g.227884945del	NCBI36
NG_011591.1:g.152421del , LRG_230:g.152421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2386del (COL4A3)
ENST00000682257.1:n.350del (COL4A3)
ENST00000682970.1:n.426del (COL4A3)
ENST00000683077.1:n.2067del (COL4A3)
ENST00000684413.1:n.2695del (COL4A3)
ENST00000684724.1:n.549del (COL4A3)
ENST00000396578.8:c.*115del (COL4A3) MANE Select	ENSP00000379823.3:n.*115del
ENST00000396578.7:c.*115del (COL4A3)	ENSP00000379823.3:n.*115del
NM_000091.4:c.*115del , LRG_230t1:c.*115del (COL4A3)	NP_000082.2:n.*115del
NR_102371.1:n.48-6329del (MFF-DT)
XM_005246276.2:c.*41del (COL4A3)	XP_005246333.1:n.*41del
XM_005246277.2:c.*115del (COL4A3)	XP_005246334.1:n.*115del
XM_011510556.1:c.*115del (COL4A3)	XP_011508858.1:n.*115del
XR_241280.2:n.5088del (COL4A3)
XM_005246277.3:c.*115del (COL4A3)	XP_005246334.1:n.*115del
XM_011510556.2:c.*115del (COL4A3)	XP_011508858.1:n.*115del
XR_241280.3:n.5088del (COL4A3)
NM_000091.5:c.*115del (COL4A3) MANE Select	NP_000082.2:n.*115del