Canonical Allele Identifier: CA737023103
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 924119
ClinVar RCV Id: RCV001185290
dbSNP Id: rs1453893690
gnomAD v3: 1-55039878-CACT-C
gnomAD v4: 1-55039878-CACT-C
MyVariant Identifiers: chr1:g.55505552_55505554del (hg19) chr1:g.55039879_55039881del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039879_55039881del , CM000663.2:g.55039879_55039881del GRCh38
NC_000001.10:g.55505552_55505554del , CM000663.1:g.55505552_55505554del GRCh37
NC_000001.9:g.55278140_55278142del NCBI36
NG_009061.1:g.5333_5335del , LRG_275:g.5333_5335del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.42_44del ENSP00000501161.2:p.Leu15del
ENST00000710286.1:c.399_401del ENSP00000518176.1:p.Leu134del
ENST00000673726.1:c.42_44del ENSP00000501004.1:p.Leu15del
ENST00000302118.5:c.42_44del MANE Select ENSP00000303208.5:p.Leu15del
NM_174936.3:c.42_44del , LRG_275t1:c.42_44del NP_777596.2:p.Leu15del
NM_174936.4:c.42_44del MANE Select NP_777596.2:p.Leu15del
Search 100 bp 5'
Search 100 bp 3'