Canonical Allele Identifier: CA658797360

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 529240
• ClinVar RCV Id: RCV002234432
• dbSNP Id: rs1554726283
• MyVariant Identifiers: chr9:g.137726997del (hg19) ; chr9:g.134835151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835151del , CM000671.2:g.134835151del	GRCh38
NC_000009.11:g.137726997del , CM000671.1:g.137726997del	GRCh37
NC_000009.10:g.136866818del	NCBI36
NG_008030.1:g.198346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5317del	ENSP00000360885.4:p.Glu1773ArgfsTer?
ENST00000371817.8:c.5317del MANE Select	ENSP00000360882.3:p.Glu1773ArgfsTer?
ENST00000371817.7:c.5317del	ENSP00000360882.3:p.Glu1773ArgfsTer?
ENST00000371820.3:c.575del
ENST00000618395.4:c.5317del	ENSP00000481360.1:p.Glu1773ArgfsTer?
NM_000093.4:c.5317del	NP_000084.3:p.Glu1773ArgfsTer?
NM_001278074.1:c.5317del	NP_001265003.1:p.Glu1773ArgfsTer?
NR_103451.2:n.71-14941del
NM_000093.5:c.5317del MANE Select	NP_000084.3:p.Glu1773ArgfsTer?