Canonical Allele Identifier: CA871473
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 627764
ClinVar RCV Id: RCV002352281 RCV003235390 RCV003605677
dbSNP Id: rs35574083
ExAC: 1:55505552 ACTGCTG / A
gnomAD v2: 1-55505552-ACTGCTG-A
gnomAD v3: 1-55039879-ACTGCTG-A
gnomAD v4: 1-55039879-ACTGCTG-A
MyVariant Identifiers: chr1:g.55505553_55505558del (hg19) chr1:g.55039880_55039885del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039897_55039902del , CM000663.2:g.55039897_55039902del GRCh38
NC_000001.10:g.55505570_55505575del , CM000663.1:g.55505570_55505575del GRCh37
NC_000001.9:g.55278158_55278163del NCBI36
NG_009061.1:g.5351_5356del , LRG_275:g.5351_5356del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.60_65del ENSP00000501161.2:p.Leu21_Leu22del
ENST00000710286.1:c.417_422del ENSP00000518176.1:p.Leu140_Leu141del
ENST00000673726.1:c.60_65del ENSP00000501004.1:p.Leu21_Leu22del
ENST00000302118.5:c.60_65del MANE Select ENSP00000303208.5:p.Leu21_Leu22del
NM_174936.3:c.60_65del , LRG_275t1:c.60_65del NP_777596.2:p.Leu21_Leu22del
NM_174936.4:c.60_65del MANE Select NP_777596.2:p.Leu21_Leu22del
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