Canonical Allele Identifier: CA891842660

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 575473
• ClinVar RCV Id: RCV002233646
• dbSNP Id: rs1564390373
• MyVariant Identifiers: chr9:g.137582774_137582776del (hg19) ; chr9:g.134690928_134690930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690928_134690930del , CM000671.2:g.134690928_134690930del	GRCh38
NC_000009.11:g.137582774_137582776del , CM000671.1:g.137582774_137582776del	GRCh37
NC_000009.10:g.136722595_136722597del	NCBI36
NG_008030.1:g.54123_54125del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.126_128del	ENSP00000360885.4:p.Leu43del
ENST00000371817.8:c.126_128del MANE Select	ENSP00000360882.3:p.Leu43del
ENST00000371817.7:c.126_128del	ENSP00000360882.3:p.Leu43del
ENST00000464187.1:n.312_314del
ENST00000618395.4:c.126_128del	ENSP00000481360.1:p.Leu43del
NM_000093.4:c.126_128del	NP_000084.3:p.Leu43del
NM_001278074.1:c.126_128del	NP_001265003.1:p.Leu43del
XR_929712.1:n.528_530del
XR_929713.1:n.528_530del
XM_017014266.2:c.126_128del	XP_016869755.1:p.Leu43del
XR_001746183.1:n.524_526del
NM_000093.5:c.126_128del MANE Select	NP_000084.3:p.Leu43del