Canonical Allele Identifier: CA2518078925

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227308815-C-CTGCAGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308815_227308816insTGCAGCTA , CM000664.2:g.227308815_227308816insTGCAGCTA	GRCh38
NC_000002.11:g.228173531_228173532insTGCAGCTA , CM000664.1:g.228173531_228173532insTGCAGCTA	GRCh37
NC_000002.10:g.227881775_227881776insTGCAGCTA	NCBI36
NG_011591.1:g.149251_149252insTGCAGCTA , LRG_230:g.149251_149252insTGCAGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1721-84_1721-83insTGCAGCTA (COL4A3)
ENST00000684413.1:n.1819_1820insTGCAGCTA (COL4A3)
ENST00000396578.8:c.4463-84_4463-83insTGCAGCTA (COL4A3) MANE Select	ENSP00000379823.3:n.4463-84_4463-83insTGCAGCTA
ENST00000469504.2:c.434-389_434-388insTGCAGCTA (COL4A3)	ENSP00000493493.1:n.434-389_434-388insTGCAGCTA
ENST00000643388.1:c.149-84_149-83insTGCAGCTA (COL4A3)	ENSP00000495177.1:n.149-84_149-83insTGCAGCTA
ENST00000396578.7:c.4463-84_4463-83insTGCAGCTA (COL4A3)	ENSP00000379823.3:n.4463-84_4463-83insTGCAGCTA
ENST00000469504.1:n.149-389_149-388insTGCAGCTA (COL4A3)
NM_000091.4:c.4463-84_4463-83insTGCAGCTA , LRG_230t1:c.4463-84_4463-83insTGCAGCTA (COL4A3)	NP_000082.2:n.4463-84_4463-83insTGCAGCTA
NR_102371.1:n.48-3161_48-3160insTAGCTGCA (MFF-DT)
XM_005246276.2:c.4463-84_4463-83insTGCAGCTA (COL4A3)	XP_005246333.1:n.4463-84_4463-83insTGCAGCTA
XM_005246277.2:c.4358-84_4358-83insTGCAGCTA (COL4A3)	XP_005246334.1:n.4358-84_4358-83insTGCAGCTA
XM_011510555.1:c.4463-84_4463-83insTGCAGCTA (COL4A3)	XP_011508857.1:n.4463-84_4463-83insTGCAGCTA
XM_011510556.1:c.3224-84_3224-83insTGCAGCTA (COL4A3)	XP_011508858.1:n.3224-84_3224-83insTGCAGCTA
XR_241280.2:n.4601-389_4601-388insTGCAGCTA (COL4A3)
XM_005246277.3:c.4358-84_4358-83insTGCAGCTA (COL4A3)	XP_005246334.1:n.4358-84_4358-83insTGCAGCTA
XM_011510556.2:c.3224-84_3224-83insTGCAGCTA (COL4A3)	XP_011508858.1:n.3224-84_3224-83insTGCAGCTA
XR_241280.3:n.4601-389_4601-388insTGCAGCTA (COL4A3)
NM_000091.5:c.4463-84_4463-83insTGCAGCTA (COL4A3) MANE Select	NP_000082.2:n.4463-84_4463-83insTGCAGCTA