Canonical Allele Identifier: CA2623676832

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110212667-A-ACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212669_110212671dup , CM000675.2:g.110212669_110212671dup	GRCh38
NC_000013.10:g.110865016_110865018dup , CM000675.1:g.110865016_110865018dup	GRCh37
NC_000013.9:g.109663017_109663019dup	NCBI36
NG_011544.2:g.99480_99482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.280-52_280-50dup MANE Select	ENSP00000364979.4:n.280-52_280-50dup
ENST00000543140.6:c.280-52_280-50dup	ENSP00000443348.1:n.280-52_280-50dup
ENST00000615732.2:c.88-52_88-50dup	ENSP00000478222.2:n.88-52_88-50dup
ENST00000647797.1:c.159-52_159-50dup
ENST00000648170.1:n.159-52_159-50dup
ENST00000648966.1:c.159-52_159-50dup
ENST00000649484.1:c.159-52_159-50dup
ENST00000649738.1:n.410-52_410-50dup
ENST00000375820.8:c.280-52_280-50dup	ENSP00000364979.4:n.280-52_280-50dup
ENST00000543140.5:c.280-52_280-50dup	ENSP00000443348.1:n.280-52_280-50dup
ENST00000615732.1:c.88-52_88-50dup	ENSP00000478222.1:n.88-52_88-50dup
NM_001303110.1:c.280-52_280-50dup	NP_001290039.1:n.280-52_280-50dup
NM_001845.5:c.280-52_280-50dup	NP_001836.3:n.280-52_280-50dup
XM_011521048.1:c.88-52_88-50dup	XP_011519350.1:n.88-52_88-50dup
XM_011521048.2:c.88-52_88-50dup	XP_011519350.1:n.88-52_88-50dup
NM_001845.6:c.280-52_280-50dup MANE Select	NP_001836.3:n.280-52_280-50dup
NM_001303110.2:c.280-52_280-50dup	NP_001290039.1:n.280-52_280-50dup