Canonical Allele Identifier: CA2692461732

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134835147-CGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835151_134835153del , CM000671.2:g.134835151_134835153del	GRCh38
NC_000009.11:g.137726997_137726999del , CM000671.1:g.137726997_137726999del	GRCh37
NC_000009.10:g.136866818_136866820del	NCBI36
NG_008030.1:g.198346_198348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5317_5319del	ENSP00000360885.4:p.Glu1773del
ENST00000371817.8:c.5317_5319del MANE Select	ENSP00000360882.3:p.Glu1773del
ENST00000371817.7:c.5317_5319del	ENSP00000360882.3:p.Glu1773del
ENST00000371820.3:c.575_577del
ENST00000618395.4:c.5317_5319del	ENSP00000481360.1:p.Glu1773del
NM_000093.4:c.5317_5319del	NP_000084.3:p.Glu1773del
NM_001278074.1:c.5317_5319del	NP_001265003.1:p.Glu1773del
NR_103451.2:n.71-14941_71-14939del
NM_000093.5:c.5317_5319del MANE Select	NP_000084.3:p.Glu1773del