Canonical Allele Identifier: CA2663432175

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312201-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312204del , CM000664.2:g.227312204del	GRCh38
NC_000002.11:g.228176920del , CM000664.1:g.228176920del	GRCh37
NC_000002.10:g.227885164del	NCBI36
NG_011591.1:g.152640del , LRG_230:g.152640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2605del (COL4A3)
ENST00000682257.1:n.569del (COL4A3)
ENST00000682970.1:n.645del (COL4A3)
ENST00000683077.1:n.2286del (COL4A3)
ENST00000684413.1:n.2914del (COL4A3)
ENST00000684724.1:n.768del (COL4A3)
ENST00000396578.8:c.*334del (COL4A3) MANE Select	ENSP00000379823.3:n.*334del
ENST00000396578.7:c.*334del (COL4A3)	ENSP00000379823.3:n.*334del
NM_000091.4:c.*334del , LRG_230t1:c.*334del (COL4A3)	NP_000082.2:n.*334del
NR_102371.1:n.48-6547del (MFF-DT)
XM_005246276.2:c.*260del (COL4A3)	XP_005246333.1:n.*260del
XM_005246277.2:c.*334del (COL4A3)	XP_005246334.1:n.*334del
XM_011510556.1:c.*334del (COL4A3)	XP_011508858.1:n.*334del
XR_241280.2:n.5307del (COL4A3)
XM_005246277.3:c.*334del (COL4A3)	XP_005246334.1:n.*334del
XM_011510556.2:c.*334del (COL4A3)	XP_011508858.1:n.*334del
XR_241280.3:n.5307del (COL4A3)
NM_000091.5:c.*334del (COL4A3) MANE Select	NP_000082.2:n.*334del