Canonical Allele Identifier: CA1332840294

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2070279718
• gnomAD v4: 2-227257733-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227257738_227257739del , CM000664.2:g.227257738_227257739del	GRCh38
NC_000002.11:g.228122454_228122455del , CM000664.1:g.228122454_228122455del	GRCh37
NC_000002.10:g.227830698_227830699del	NCBI36
NG_011591.1:g.98174_98175del , LRG_230:g.98174_98175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.1029+94_1029+95del (COL4A3) MANE Select	ENSP00000379823.3:n.1029+94_1029+95del
ENST00000396578.7:c.1029+94_1029+95del (COL4A3)	ENSP00000379823.3:n.1029+94_1029+95del
NM_000091.4:c.1029+94_1029+95del , LRG_230t1:c.1029+94_1029+95del (COL4A3)	NP_000082.2:n.1029+94_1029+95del
NR_102371.1:n.1592+1443_1592+1444del (MFF-DT)
XM_005246276.2:c.1029+94_1029+95del (COL4A3)	XP_005246333.1:n.1029+94_1029+95del
XM_005246277.2:c.1029+94_1029+95del (COL4A3)	XP_005246334.1:n.1029+94_1029+95del
XM_005246280.2:c.1029+94_1029+95del (COL4A3)	XP_005246337.1:n.1029+94_1029+95del
XM_006712245.2:c.1029+94_1029+95del (COL4A3)	XP_006712308.1:n.1029+94_1029+95del
XM_011510555.1:c.1029+94_1029+95del (COL4A3)	XP_011508857.1:n.1029+94_1029+95del
XM_011510556.1:c.-207+94_-207+95del (COL4A3)	XP_011508858.1:n.-207+94_-207+95del
XR_241280.2:n.1167+94_1167+95del (COL4A3)
XM_005246277.3:c.1029+94_1029+95del (COL4A3)	XP_005246334.1:n.1029+94_1029+95del
XM_005246280.3:c.1029+94_1029+95del (COL4A3)	XP_005246337.1:n.1029+94_1029+95del
XM_006712245.3:c.1029+94_1029+95del (COL4A3)	XP_006712308.1:n.1029+94_1029+95del
XM_011510556.2:c.-207+94_-207+95del (COL4A3)	XP_011508858.1:n.-207+94_-207+95del
XM_017003295.1:c.1029+94_1029+95del (COL4A3)	XP_016858784.1:n.1029+94_1029+95del
XR_001738601.1:n.1167+94_1167+95del (COL4A3)
XR_241280.3:n.1167+94_1167+95del (COL4A3)
NM_000091.5:c.1029+94_1029+95del (COL4A3) MANE Select	NP_000082.2:n.1029+94_1029+95del