Canonical Allele Identifier: CA2692461552

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134834874-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834876del , CM000671.2:g.134834876del	GRCh38
NC_000009.11:g.137726722del , CM000671.1:g.137726722del	GRCh37
NC_000009.10:g.136866543del	NCBI36
NG_008030.1:g.198071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-95del	ENSP00000360885.4:n.5137-95del
ENST00000371817.8:c.5137-95del MANE Select	ENSP00000360882.3:n.5137-95del
ENST00000371817.7:c.5137-95del	ENSP00000360882.3:n.5137-95del
ENST00000371820.3:c.395-95del
ENST00000618395.4:c.5137-95del	ENSP00000481360.1:n.5137-95del
NM_000093.4:c.5137-95del	NP_000084.3:n.5137-95del
NM_001278074.1:c.5137-95del	NP_001265003.1:n.5137-95del
NR_103451.2:n.71-14666del
XR_929712.1:n.5821-95del
XR_929713.1:n.5689-95del
XM_017014266.2:c.*2123del	XP_016869755.1:n.*2123del
XR_001746183.1:n.7801del
NM_000093.5:c.5137-95del MANE Select	NP_000084.3:n.5137-95del