Canonical Allele Identifier: CA1043065936

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073763431
• gnomAD v3: 2-227312088-CA-C
• gnomAD v4: 2-227312088-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312091del , CM000664.2:g.227312091del	GRCh38
NC_000002.11:g.228176807del , CM000664.1:g.228176807del	GRCh37
NC_000002.10:g.227885051del	NCBI36
NG_011591.1:g.152527del , LRG_230:g.152527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2492del (COL4A3)
ENST00000682257.1:n.456del (COL4A3)
ENST00000682970.1:n.532del (COL4A3)
ENST00000683077.1:n.2173del (COL4A3)
ENST00000684413.1:n.2801del (COL4A3)
ENST00000684724.1:n.655del (COL4A3)
ENST00000396578.8:c.*221del (COL4A3) MANE Select	ENSP00000379823.3:n.*221del
ENST00000396578.7:c.*221del (COL4A3)	ENSP00000379823.3:n.*221del
NM_000091.4:c.*221del , LRG_230t1:c.*221del (COL4A3)	NP_000082.2:n.*221del
NR_102371.1:n.48-6434del (MFF-DT)
XM_005246276.2:c.*147del (COL4A3)	XP_005246333.1:n.*147del
XM_005246277.2:c.*221del (COL4A3)	XP_005246334.1:n.*221del
XM_011510556.1:c.*221del (COL4A3)	XP_011508858.1:n.*221del
XR_241280.2:n.5194del (COL4A3)
XM_005246277.3:c.*221del (COL4A3)	XP_005246334.1:n.*221del
XM_011510556.2:c.*221del (COL4A3)	XP_011508858.1:n.*221del
XR_241280.3:n.5194del (COL4A3)
NM_000091.5:c.*221del (COL4A3) MANE Select	NP_000082.2:n.*221del