Canonical Allele Identifier: CA2118733177

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170024_110170025delinsGA , CM000675.2:g.110170024_110170025delinsGA	GRCh38
NC_000013.10:g.110822371_110822372delinsGA , CM000675.1:g.110822371_110822372delinsGA	GRCh37
NC_000013.9:g.109620372_109620373delinsGA	NCBI36
NG_011544.2:g.142125_142126delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-263_3743-262delinsTC MANE Select	ENSP00000364979.4:n.3743-263_3743-262delinsTC
ENST00000375820.8:c.3743-263_3743-262delinsTC	ENSP00000364979.4:n.3743-263_3743-262delinsTC
NM_001845.5:c.3743-263_3743-262delinsTC	NP_001836.3:n.3743-263_3743-262delinsTC
XM_011521048.1:c.3551-263_3551-262delinsTC	XP_011519350.1:n.3551-263_3551-262delinsTC
XM_011521048.2:c.3551-263_3551-262delinsTC	XP_011519350.1:n.3551-263_3551-262delinsTC
NM_001845.6:c.3743-263_3743-262delinsTC MANE Select	NP_001836.3:n.3743-263_3743-262delinsTC