Canonical Allele Identifier: CA913187506

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 922063
• ClinVar RCV Id: RCV001181909 ; RCV001349801
• dbSNP Id: rs1644584450
• gnomAD v4: 1-55039878-CACTGCTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039879_55039887del , CM000663.2:g.55039879_55039887del	GRCh38
NC_000001.10:g.55505552_55505560del , CM000663.1:g.55505552_55505560del	GRCh37
NC_000001.9:g.55278140_55278148del	NCBI36
NG_009061.1:g.5333_5341del , LRG_275:g.5333_5341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.42_50del	ENSP00000501161.2:p.Leu15_Leu17del
ENST00000710286.1:c.399_407del	ENSP00000518176.1:p.Leu134_Leu136del
ENST00000673726.1:c.42_50del	ENSP00000501004.1:p.Leu15_Leu17del
ENST00000302118.5:c.42_50del MANE Select	ENSP00000303208.5:p.Leu15_Leu17del
NM_174936.3:c.42_50del , LRG_275t1:c.42_50del	NP_777596.2:p.Leu15_Leu17del
NM_174936.4:c.42_50del MANE Select	NP_777596.2:p.Leu15_Leu17del