Canonical Allele Identifier: CA658656060

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 459711
• ClinVar RCV Id: RCV002231308
• dbSNP Id: rs1554726279
• MyVariant Identifiers: chr9:g.137726979del (hg19) ; chr9:g.134835133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835133del , CM000671.2:g.134835133del	GRCh38
NC_000009.11:g.137726979del , CM000671.1:g.137726979del	GRCh37
NC_000009.10:g.136866800del	NCBI36
NG_008030.1:g.198328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5299del	ENSP00000360885.4:p.Leu1767TrpfsTer?
ENST00000371817.8:c.5299del MANE Select	ENSP00000360882.3:p.Leu1767TrpfsTer?
ENST00000371817.7:c.5299del	ENSP00000360882.3:p.Leu1767TrpfsTer?
ENST00000371820.3:c.557del
ENST00000618395.4:c.5299del	ENSP00000481360.1:p.Leu1767TrpfsTer?
NM_000093.4:c.5299del	NP_000084.3:p.Leu1767TrpfsTer?
NM_001278074.1:c.5299del	NP_001265003.1:p.Leu1767TrpfsTer?
NR_103451.2:n.71-14923del
NM_000093.5:c.5299del MANE Select	NP_000084.3:p.Leu1767TrpfsTer?