Canonical Allele Identifier: CA16618790

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 422922
• ClinVar RCV Id: RCV000481607
• dbSNP Id: rs1064796096
• MyVariant Identifiers: chr9:g.137726907_137726915del (hg19) ; chr9:g.134835061_134835069del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835061_134835069del , CM000671.2:g.134835061_134835069del	GRCh38
NC_000009.11:g.137726907_137726915del , CM000671.1:g.137726907_137726915del	GRCh37
NC_000009.10:g.136866728_136866736del	NCBI36
NG_008030.1:g.198256_198264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5227_5235del	ENSP00000360885.4:p.Thr1743_His1745del
ENST00000371817.8:c.5227_5235del MANE Select	ENSP00000360882.3:p.Thr1743_His1745del
ENST00000371817.7:c.5227_5235del	ENSP00000360882.3:p.Thr1743_His1745del
ENST00000371820.3:c.485_493del
ENST00000618395.4:c.5227_5235del	ENSP00000481360.1:p.Thr1743_His1745del
NM_000093.4:c.5227_5235del	NP_000084.3:p.Thr1743_His1745del
NM_001278074.1:c.5227_5235del	NP_001265003.1:p.Thr1743_His1745del
NR_103451.2:n.71-14859_71-14851del
NM_000093.5:c.5227_5235del MANE Select	NP_000084.3:p.Thr1743_His1745del