Canonical Allele Identifier: CA2545285793

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843556del , CM000671.2:g.134843556del	GRCh38
NC_000009.11:g.137735402del , CM000671.1:g.137735402del	GRCh37
NC_000009.10:g.136875223del	NCBI36
NG_008030.1:g.206751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1253del	ENSP00000360885.4:n.*1253del
ENST00000371817.8:c.*1253del MANE Select	ENSP00000360882.3:n.*1253del
ENST00000371817.7:c.*1253del	ENSP00000360882.3:n.*1253del
ENST00000618395.4:c.*1253del	ENSP00000481360.1:n.*1253del
NM_000093.4:c.*1253del	NP_000084.3:n.*1253del
NM_001278074.1:c.*1253del	NP_001265003.1:n.*1253del
NR_103451.2:n.71-23345del
NM_000093.5:c.*1253del MANE Select	NP_000084.3:n.*1253del