Canonical Allele Identifier: CA2118762061

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110229029_110229032delinsTCAG , CM000675.2:g.110229029_110229032delinsTCAG	GRCh38
NC_000013.10:g.110881376_110881379delinsTCAG , CM000675.1:g.110881376_110881379delinsTCAG	GRCh37
NC_000013.9:g.109679377_109679380delinsTCAG	NCBI36
NG_011544.2:g.83118_83121delinsCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.144+13643_144+13646delinsCTGA MANE Select	ENSP00000364979.4:n.144+13643_144+13646delinsCTGA
ENST00000543140.6:c.144+13643_144+13646delinsCTGA	ENSP00000443348.1:n.144+13643_144+13646delinsCTGA
ENST00000615732.2:c.-49+13643_-49+13646delinsCTGA	ENSP00000478222.2:n.-49+13643_-49+13646delinsCTGA
ENST00000647797.1:c.23+13643_23+13646delinsCTGA
ENST00000648170.1:n.23+13643_23+13646delinsCTGA
ENST00000648966.1:c.23+13643_23+13646delinsCTGA
ENST00000649484.1:c.23+13643_23+13646delinsCTGA
ENST00000649738.1:n.274+13643_274+13646delinsCTGA
ENST00000375820.8:c.144+13643_144+13646delinsCTGA	ENSP00000364979.4:n.144+13643_144+13646delinsCTGA
ENST00000543140.5:c.144+13643_144+13646delinsCTGA	ENSP00000443348.1:n.144+13643_144+13646delinsCTGA
ENST00000615732.1:c.-49+13639_-49+13642delinsCTGA	ENSP00000478222.1:n.-49+13639_-49+13642delinsCTGA
NM_001303110.1:c.144+13643_144+13646delinsCTGA	NP_001290039.1:n.144+13643_144+13646delinsCTGA
NM_001845.5:c.144+13643_144+13646delinsCTGA	NP_001836.3:n.144+13643_144+13646delinsCTGA
XM_011521048.1:c.-49+13643_-49+13646delinsCTGA	XP_011519350.1:n.-49+13643_-49+13646delinsCTGA
XM_011521048.2:c.-49+13643_-49+13646delinsCTGA	XP_011519350.1:n.-49+13643_-49+13646delinsCTGA
NM_001845.6:c.144+13643_144+13646delinsCTGA MANE Select	NP_001836.3:n.144+13643_144+13646delinsCTGA
NM_001303110.2:c.144+13643_144+13646delinsCTGA	NP_001290039.1:n.144+13643_144+13646delinsCTGA