Canonical Allele Identifier: CA2720753586

Gene: COL5A1

Linked Data

• dbSNP Id: rs2132927373

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835466del , CM000671.2:g.134835466del	GRCh38
NC_000009.11:g.137727312del , CM000671.1:g.137727312del	GRCh37
NC_000009.10:g.136867133del	NCBI36
NG_008030.1:g.198661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+262del	ENSP00000360885.4:n.5370+262del
ENST00000371817.8:c.5370+262del MANE Select	ENSP00000360882.3:n.5370+262del
ENST00000371817.7:c.5370+262del	ENSP00000360882.3:n.5370+262del
ENST00000618395.4:c.5370+262del	ENSP00000481360.1:n.5370+262del
NM_000093.4:c.5370+262del	NP_000084.3:n.5370+262del
NM_001278074.1:c.5370+262del	NP_001265003.1:n.5370+262del
NR_103451.2:n.71-15255del
NM_000093.5:c.5370+262del MANE Select	NP_000084.3:n.5370+262del