Canonical Allele Identifier: CA1332861862

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073620242

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308814_227308815insGCTGCAGCT , CM000664.2:g.227308814_227308815insGCTGCAGCT	GRCh38
NC_000002.11:g.228173530_228173531insGCTGCAGCT , CM000664.1:g.228173530_228173531insGCTGCAGCT	GRCh37
NC_000002.10:g.227881774_227881775insGCTGCAGCT	NCBI36
NG_011591.1:g.149250_149251insGCTGCAGCT , LRG_230:g.149250_149251insGCTGCAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1721-85_1721-84insGCTGCAGCT (COL4A3)
ENST00000684413.1:n.1818_1819insGCTGCAGCT (COL4A3)
ENST00000396578.8:c.4463-85_4463-84insGCTGCAGCT (COL4A3) MANE Select	ENSP00000379823.3:n.4463-85_4463-84insGCTGCAGCT
ENST00000469504.2:c.434-390_434-389insGCTGCAGCT (COL4A3)	ENSP00000493493.1:n.434-390_434-389insGCTGCAGCT
ENST00000643388.1:c.149-85_149-84insGCTGCAGCT (COL4A3)	ENSP00000495177.1:n.149-85_149-84insGCTGCAGCT
ENST00000396578.7:c.4463-85_4463-84insGCTGCAGCT (COL4A3)	ENSP00000379823.3:n.4463-85_4463-84insGCTGCAGCT
ENST00000469504.1:n.149-390_149-389insGCTGCAGCT (COL4A3)
NM_000091.4:c.4463-85_4463-84insGCTGCAGCT , LRG_230t1:c.4463-85_4463-84insGCTGCAGCT (COL4A3)	NP_000082.2:n.4463-85_4463-84insGCTGCAGCT
NR_102371.1:n.48-3160_48-3159insAGCTGCAGC (MFF-DT)
XM_005246276.2:c.4463-85_4463-84insGCTGCAGCT (COL4A3)	XP_005246333.1:n.4463-85_4463-84insGCTGCAGCT
XM_005246277.2:c.4358-85_4358-84insGCTGCAGCT (COL4A3)	XP_005246334.1:n.4358-85_4358-84insGCTGCAGCT
XM_011510555.1:c.4463-85_4463-84insGCTGCAGCT (COL4A3)	XP_011508857.1:n.4463-85_4463-84insGCTGCAGCT
XM_011510556.1:c.3224-85_3224-84insGCTGCAGCT (COL4A3)	XP_011508858.1:n.3224-85_3224-84insGCTGCAGCT
XR_241280.2:n.4601-390_4601-389insGCTGCAGCT (COL4A3)
XM_005246277.3:c.4358-85_4358-84insGCTGCAGCT (COL4A3)	XP_005246334.1:n.4358-85_4358-84insGCTGCAGCT
XM_011510556.2:c.3224-85_3224-84insGCTGCAGCT (COL4A3)	XP_011508858.1:n.3224-85_3224-84insGCTGCAGCT
XR_241280.3:n.4601-390_4601-389insGCTGCAGCT (COL4A3)
NM_000091.5:c.4463-85_4463-84insGCTGCAGCT (COL4A3) MANE Select	NP_000082.2:n.4463-85_4463-84insGCTGCAGCT