Canonical Allele Identifier: CA523275412
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2884120
ClinVar RCV Id: RCV003606657
dbSNP Id: rs1369105603
gnomAD v2: 1-55509715-AC-A
gnomAD v3: 1-55044042-AC-A
gnomAD v4: 1-55044042-AC-A
MyVariant Identifiers: chr1:g.55509716del (hg19) chr1:g.55044043del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044045del , CM000663.2:g.55044045del GRCh38
NC_000001.10:g.55509718del , CM000663.1:g.55509718del GRCh37
NC_000001.9:g.55282306del NCBI36
NG_009061.1:g.9499del , LRG_275:g.9499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.399+11del ENSP00000501161.2:n.399+11del
ENST00000710286.1:c.756+11del ENSP00000518176.1:n.756+11del
ENST00000673662.1:n.69+11del
ENST00000673726.1:c.399+11del ENSP00000501004.1:n.399+11del
ENST00000673903.1:c.24+11del ENSP00000501257.1:n.24+11del
ENST00000302118.5:c.399+11del MANE Select ENSP00000303208.5:n.399+11del
NM_174936.3:c.399+11del , LRG_275t1:c.399+11del NP_777596.2:n.399+11del
NR_110451.1:n.182+3642del
NM_174936.4:c.399+11del MANE Select NP_777596.2:n.399+11del
NR_110451.2:n.182+3642del
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