Canonical Allele Identifier: CA2561684799

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110229051del , CM000675.2:g.110229051del	GRCh38
NC_000013.10:g.110881398del , CM000675.1:g.110881398del	GRCh37
NC_000013.9:g.109679399del	NCBI36
NG_011544.2:g.83101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.144+13626del MANE Select	ENSP00000364979.4:n.144+13626del
ENST00000543140.6:c.144+13626del	ENSP00000443348.1:n.144+13626del
ENST00000615732.2:c.-49+13626del	ENSP00000478222.2:n.-49+13626del
ENST00000647797.1:c.23+13626del
ENST00000648170.1:n.23+13626del
ENST00000648966.1:c.23+13626del
ENST00000649484.1:c.23+13626del
ENST00000649738.1:n.274+13626del
ENST00000375820.8:c.144+13626del	ENSP00000364979.4:n.144+13626del
ENST00000543140.5:c.144+13626del	ENSP00000443348.1:n.144+13626del
ENST00000615732.1:c.-49+13622del	ENSP00000478222.1:n.-49+13622del
NM_001303110.1:c.144+13626del	NP_001290039.1:n.144+13626del
NM_001845.5:c.144+13626del	NP_001836.3:n.144+13626del
XM_011521048.1:c.-49+13626del	XP_011519350.1:n.-49+13626del
XM_011521048.2:c.-49+13626del	XP_011519350.1:n.-49+13626del
NM_001845.6:c.144+13626del MANE Select	NP_001836.3:n.144+13626del
NM_001303110.2:c.144+13626del	NP_001290039.1:n.144+13626del