Canonical Allele Identifier: CA2573144124

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1368240
• ClinVar RCV Id: RCV001867404
• dbSNP Id: rs2132642108

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731570_134731572del , CM000671.2:g.134731570_134731572del	GRCh38
NC_000009.11:g.137623416_137623418del , CM000671.1:g.137623416_137623418del	GRCh37
NC_000009.10:g.136763237_136763239del	NCBI36
NG_008030.1:g.94765_94767del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1239_1241del	ENSP00000360885.4:p.Asp413del
ENST00000371817.8:c.1239_1241del MANE Select	ENSP00000360882.3:p.Asp413del
ENST00000371817.7:c.1239_1241del	ENSP00000360882.3:p.Asp413del
ENST00000618395.4:c.1239_1241del	ENSP00000481360.1:p.Asp413del
NM_000093.4:c.1239_1241del	NP_000084.3:p.Asp413del
NM_001278074.1:c.1239_1241del	NP_001265003.1:p.Asp413del
XR_929712.1:n.1641_1643del
XR_929713.1:n.1641_1643del
XM_017014266.2:c.1239_1241del	XP_016869755.1:p.Asp413del
XR_001746183.1:n.1637_1639del
NM_000093.5:c.1239_1241del MANE Select	NP_000084.3:p.Asp413del