Canonical Allele Identifier: CA10621012

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 354635
• ClinVar RCV Id: RCV000273783 ; RCV000331249
• dbSNP Id: rs886060885
• gnomAD v2: 5-95728442-CT-C
• gnomAD v3: 5-96392738-CT-C
• gnomAD v4: 5-96392738-CT-C
• MyVariant Identifiers: chr5:g.95728443del (hg19) ; chr5:g.96392739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392739del , CM000667.2:g.96392739del	GRCh38
NC_000005.9:g.95728443del , CM000667.1:g.95728443del	GRCh37
NC_000005.8:g.95754199del	NCBI36
NG_021161.1:g.45543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*262del MANE Select	ENSP00000308024.2:n.*262del
ENST00000311106.7:c.*262del	ENSP00000308024.2:n.*262del
NM_000439.4:c.*262del	NP_000430.3:n.*262del
NM_001177875.1:c.*262del	NP_001171346.1:n.*262del
NR_130776.1:n.354+13087del
NM_000439.5:c.*262del MANE Select	NP_000430.3:n.*262del
NM_001177875.2:c.*262del	NP_001171346.1:n.*262del