Canonical Allele Identifier: CA2147696

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs757677681
• ExAC: 2:228176521 GT / G
• gnomAD v2: 2-228176521-GT-G
• MyVariant Identifiers: chr2:g.228176522del (hg19) ; chr2:g.227311806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311806del , CM000664.2:g.227311806del	GRCh38
NC_000002.11:g.228176522del , CM000664.1:g.228176522del	GRCh37
NC_000002.10:g.227884766del	NCBI36
NG_011591.1:g.152242del , LRG_230:g.152242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2207del (COL4A3)
ENST00000682257.1:n.171del (COL4A3)
ENST00000682970.1:n.247del (COL4A3)
ENST00000683077.1:n.1888del (COL4A3)
ENST00000684413.1:n.2516del (COL4A3)
ENST00000684724.1:n.370del (COL4A3)
ENST00000396578.8:c.4949del (COL4A3) MANE Select	ENSP00000379823.3:p.Val1650GlyfsTer6
ENST00000469504.2:c.742del (COL4A3)	ENSP00000493493.1:n.742del
ENST00000643388.1:c.462del (COL4A3)	ENSP00000495177.1:p.Cys154TrpfsTer22
ENST00000396578.7:c.4949del (COL4A3)	ENSP00000379823.3:p.Val1650GlyfsTer6
ENST00000469504.1:n.457del (COL4A3)
NM_000091.4:c.4949del , LRG_230t1:c.4949del (COL4A3)	NP_000082.2:p.Val1650GlyfsTer6
NR_102371.1:n.48-6151del (MFF-DT)
XM_005246276.2:c.4776del (COL4A3)	XP_005246333.1:p.Cys1592TrpfsTer22
XM_005246277.2:c.4844del (COL4A3)	XP_005246334.1:p.Val1615GlyfsTer6
XM_011510556.1:c.3710del (COL4A3)	XP_011508858.1:p.Val1237GlyfsTer6
XR_241280.2:n.4909del (COL4A3)
XM_005246277.3:c.4844del (COL4A3)	XP_005246334.1:p.Val1615GlyfsTer6
XM_011510556.2:c.3710del (COL4A3)	XP_011508858.1:p.Val1237GlyfsTer6
XR_241280.3:n.4909del (COL4A3)
NM_000091.5:c.4949del (COL4A3) MANE Select	NP_000082.2:p.Val1650GlyfsTer6