Canonical Allele Identifier: CA2692462629

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134843135-AGTTTTTGATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843136_134843145del , CM000671.2:g.134843136_134843145del	GRCh38
NC_000009.11:g.137734982_137734991del , CM000671.1:g.137734982_137734991del	GRCh37
NC_000009.10:g.136874803_136874812del	NCBI36
NG_008030.1:g.206331_206340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*833_*842del	ENSP00000360885.4:n.*833_*842del
ENST00000371817.8:c.*833_*842del MANE Select	ENSP00000360882.3:n.*833_*842del
ENST00000371817.7:c.*833_*842del	ENSP00000360882.3:n.*833_*842del
ENST00000618395.4:c.*833_*842del	ENSP00000481360.1:n.*833_*842del
NM_000093.4:c.*833_*842del	NP_000084.3:n.*833_*842del
NM_001278074.1:c.*833_*842del	NP_001265003.1:n.*833_*842del
NR_103451.2:n.71-22936_71-22927del
NM_000093.5:c.*833_*842del MANE Select	NP_000084.3:n.*833_*842del