Canonical Allele Identifier: CA2603681158

Gene: COL5A1

Linked Data

• gnomAD v3: 9-134731574-A-AACTACTACG
• gnomAD v4: 9-134731574-A-AACTACTACG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731577_134731585dup , CM000671.2:g.134731577_134731585dup	GRCh38
NC_000009.11:g.137623423_137623431dup , CM000671.1:g.137623423_137623431dup	GRCh37
NC_000009.10:g.136763244_136763252dup	NCBI36
NG_008030.1:g.94772_94780dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1246_1254dup	ENSP00000360885.4:p.Asp418_Pro419insTyrTy...
ENST00000371817.8:c.1246_1254dup MANE Select	ENSP00000360882.3:p.Asp418_Pro419insTyrTy...
ENST00000371817.7:c.1246_1254dup	ENSP00000360882.3:p.Asp418_Pro419insTyrTy...
ENST00000618395.4:c.1246_1254dup	ENSP00000481360.1:p.Asp418_Pro419insTyrTy...
NM_000093.4:c.1246_1254dup	NP_000084.3:p.Asp418_Pro419insTyrTyrAsp
NM_001278074.1:c.1246_1254dup	NP_001265003.1:p.Asp418_Pro419insTyrTyrAs...
XR_929712.1:n.1648_1656dup
XR_929713.1:n.1648_1656dup
XM_017014266.2:c.1246_1254dup	XP_016869755.1:p.Asp418_Pro419insTyrTyrAs...
XR_001746183.1:n.1644_1652dup
NM_000093.5:c.1246_1254dup MANE Select	NP_000084.3:p.Asp418_Pro419insTyrTyrAsp