Canonical Allele Identifier: CA860876128

Gene: COL5A1

Linked Data

• dbSNP Id: rs1341778988
• MyVariant Identifiers: chr9:g.137642524del (hg19) ; chr9:g.134750678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750680del , CM000671.2:g.134750680del	GRCh38
NC_000009.11:g.137642526del , CM000671.1:g.137642526del	GRCh37
NC_000009.10:g.136782347del	NCBI36
NG_008030.1:g.113875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1569+64del	ENSP00000360885.4:n.1569+64del
ENST00000371817.8:c.1569+64del MANE Select	ENSP00000360882.3:n.1569+64del
ENST00000371817.7:c.1569+64del	ENSP00000360882.3:n.1569+64del
ENST00000618395.4:c.1569+64del	ENSP00000481360.1:n.1569+64del
NM_000093.4:c.1569+64del	NP_000084.3:n.1569+64del
NM_001278074.1:c.1569+64del	NP_001265003.1:n.1569+64del
XR_929712.1:n.1971+64del
XR_929713.1:n.1971+64del
XM_017014266.2:c.1569+64del	XP_016869755.1:n.1569+64del
XR_001746183.1:n.1967+64del
NM_000093.5:c.1569+64del MANE Select	NP_000084.3:n.1569+64del