Canonical Allele Identifier: CA1883397528

Gene: COL5A1

Linked Data

• dbSNP Id: rs1830153738

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843181del , CM000671.2:g.134843181del	GRCh38
NC_000009.11:g.137735027del , CM000671.1:g.137735027del	GRCh37
NC_000009.10:g.136874848del	NCBI36
NG_008030.1:g.206376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*878del	ENSP00000360885.4:n.*878del
ENST00000371817.8:c.*878del MANE Select	ENSP00000360882.3:n.*878del
ENST00000371817.7:c.*878del	ENSP00000360882.3:n.*878del
ENST00000618395.4:c.*878del	ENSP00000481360.1:n.*878del
NM_000093.4:c.*878del	NP_000084.3:n.*878del
NM_001278074.1:c.*878del	NP_001265003.1:n.*878del
NR_103451.2:n.71-22967del
NM_000093.5:c.*878del MANE Select	NP_000084.3:n.*878del