Canonical Allele Identifier: CA658797359

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 519656
• ClinVar RCV Id: RCV002314260
• dbSNP Id: rs1554726251
• MyVariant Identifiers: chr9:g.137726845dup (hg19) ; chr9:g.134834999dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834999dup , CM000671.2:g.134834999dup	GRCh38
NC_000009.11:g.137726845dup , CM000671.1:g.137726845dup	GRCh37
NC_000009.10:g.136866666dup	NCBI36
NG_008030.1:g.198194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5165dup	ENSP00000360885.4:p.Val1723CysfsTer?
ENST00000371817.8:c.5165dup MANE Select	ENSP00000360882.3:p.Val1723CysfsTer?
ENST00000371817.7:c.5165dup	ENSP00000360882.3:p.Val1723CysfsTer?
ENST00000371820.3:c.423dup
ENST00000618395.4:c.5165dup	ENSP00000481360.1:p.Val1723CysfsTer?
NM_000093.4:c.5165dup	NP_000084.3:p.Val1723CysfsTer?
NM_001278074.1:c.5165dup	NP_001265003.1:p.Val1723CysfsTer?
NR_103451.2:n.71-14788dup
XR_929712.1:n.5849dup
XR_929713.1:n.5717dup
NM_000093.5:c.5165dup MANE Select	NP_000084.3:p.Val1723CysfsTer?