Canonical Allele Identifier: CA2147717

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs779675451
• ExAC: 2:228176701 TAGTACAA / T
• gnomAD v2: 2-228176701-TAGTACAA-T
• gnomAD v4: 2-227311985-TAGTACAA-T
• MyVariant Identifiers: chr2:g.228176702_228176708del (hg19) ; chr2:g.227311986_227311992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311989_227311995del , CM000664.2:g.227311989_227311995del	GRCh38
NC_000002.11:g.228176705_228176711del , CM000664.1:g.228176705_228176711del	GRCh37
NC_000002.10:g.227884949_227884955del	NCBI36
NG_011591.1:g.152425_152431del , LRG_230:g.152425_152431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2390_2396del (COL4A3)
ENST00000682257.1:n.354_360del (COL4A3)
ENST00000682970.1:n.430_436del (COL4A3)
ENST00000683077.1:n.2071_2077del (COL4A3)
ENST00000684413.1:n.2699_2705del (COL4A3)
ENST00000684724.1:n.553_559del (COL4A3)
ENST00000396578.8:c.*119_*125del (COL4A3) MANE Select	ENSP00000379823.3:n.*119_*125del
ENST00000396578.7:c.*119_*125del (COL4A3)	ENSP00000379823.3:n.*119_*125del
NM_000091.4:c.*119_*125del , LRG_230t1:c.*119_*125del (COL4A3)	NP_000082.2:n.*119_*125del
NR_102371.1:n.48-6337_48-6331del (MFF-DT)
XM_005246276.2:c.*45_*51del (COL4A3)	XP_005246333.1:n.*45_*51del
XM_005246277.2:c.*119_*125del (COL4A3)	XP_005246334.1:n.*119_*125del
XM_011510556.1:c.*119_*125del (COL4A3)	XP_011508858.1:n.*119_*125del
XR_241280.2:n.5092_5098del (COL4A3)
XM_005246277.3:c.*119_*125del (COL4A3)	XP_005246334.1:n.*119_*125del
XM_011510556.2:c.*119_*125del (COL4A3)	XP_011508858.1:n.*119_*125del
XR_241280.3:n.5092_5098del (COL4A3)
NM_000091.5:c.*119_*125del (COL4A3) MANE Select	NP_000082.2:n.*119_*125del