Canonical Allele Identifier: CA916790667

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1574846545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312149_227312150dup , CM000664.2:g.227312149_227312150dup	GRCh38
NC_000002.11:g.228176865_228176866dup , CM000664.1:g.228176865_228176866dup	GRCh37
NC_000002.10:g.227885109_227885110dup	NCBI36
NG_011591.1:g.152585_152586dup , LRG_230:g.152585_152586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2550_2551dup (COL4A3)
ENST00000682257.1:n.514_515dup (COL4A3)
ENST00000682970.1:n.590_591dup (COL4A3)
ENST00000683077.1:n.2231_2232dup (COL4A3)
ENST00000684413.1:n.2859_2860dup (COL4A3)
ENST00000684724.1:n.713_714dup (COL4A3)
ENST00000396578.8:c.*279_*280dup (COL4A3) MANE Select	ENSP00000379823.3:n.*279_*280dup
ENST00000396578.7:c.*279_*280dup (COL4A3)	ENSP00000379823.3:n.*279_*280dup
NM_000091.4:c.*279_*280dup , LRG_230t1:c.*279_*280dup (COL4A3)	NP_000082.2:n.*279_*280dup
NR_102371.1:n.48-6494_48-6493dup (MFF-DT)
XM_005246276.2:c.*205_*206dup (COL4A3)	XP_005246333.1:n.*205_*206dup
XM_005246277.2:c.*279_*280dup (COL4A3)	XP_005246334.1:n.*279_*280dup
XM_011510556.1:c.*279_*280dup (COL4A3)	XP_011508858.1:n.*279_*280dup
XR_241280.2:n.5252_5253dup (COL4A3)
XM_005246277.3:c.*279_*280dup (COL4A3)	XP_005246334.1:n.*279_*280dup
XM_011510556.2:c.*279_*280dup (COL4A3)	XP_011508858.1:n.*279_*280dup
XR_241280.3:n.5252_5253dup (COL4A3)
NM_000091.5:c.*279_*280dup (COL4A3) MANE Select	NP_000082.2:n.*279_*280dup