Canonical Allele Identifier: CA044217
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075405
ClinVar RCV Id: RCV004016923
dbSNP Id: rs775052433
ExAC: 1:55505582 TC / T
gnomAD v2: 1-55505582-TC-T
gnomAD v4: 1-55039909-TC-T
MyVariant Identifiers: chr1:g.55505583del (hg19) chr1:g.55039910del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039912del , CM000663.2:g.55039912del GRCh38
NC_000001.10:g.55505585del , CM000663.1:g.55505585del GRCh37
NC_000001.9:g.55278173del NCBI36
NG_009061.1:g.5366del , LRG_275:g.5366del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.75del ENSP00000501161.2:p.Ala26ArgfsTer18
ENST00000710286.1:c.432del ENSP00000518176.1:p.Ala145ArgfsTer18
ENST00000673726.1:c.75del ENSP00000501004.1:p.Ala26ArgfsTer18
ENST00000302118.5:c.75del MANE Select ENSP00000303208.5:p.Ala26ArgfsTer18
NM_174936.3:c.75del , LRG_275t1:c.75del NP_777596.2:p.Ala26ArgfsTer18
NM_174936.4:c.75del MANE Select NP_777596.2:p.Ala26ArgfsTer18
Search 100 bp 5'
Search 100 bp 3'