Canonical Allele Identifier: CA2692461832

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134835234-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835235del , CM000671.2:g.134835235del	GRCh38
NC_000009.11:g.137727081del , CM000671.1:g.137727081del	GRCh37
NC_000009.10:g.136866902del	NCBI36
NG_008030.1:g.198430del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5370+31del	ENSP00000360885.4:n.5370+31del
ENST00000371817.8:c.5370+31del MANE Select	ENSP00000360882.3:n.5370+31del
ENST00000371817.7:c.5370+31del	ENSP00000360882.3:n.5370+31del
ENST00000618395.4:c.5370+31del	ENSP00000481360.1:n.5370+31del
NM_000093.4:c.5370+31del	NP_000084.3:n.5370+31del
NM_001278074.1:c.5370+31del	NP_001265003.1:n.5370+31del
NR_103451.2:n.71-15026del
NM_000093.5:c.5370+31del MANE Select	NP_000084.3:n.5370+31del