Canonical Allele Identifier: CA737023026
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1471672092
MyVariant Identifiers: chr1:g.55505521_55505522insG (hg19) chr1:g.55039848_55039849insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039848_55039849insG , CM000663.2:g.55039848_55039849insG GRCh38
NC_000001.10:g.55505521_55505522insG , CM000663.1:g.55505521_55505522insG GRCh37
NC_000001.9:g.55278109_55278110insG NCBI36
NG_009061.1:g.5302_5303insG , LRG_275:g.5302_5303insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.11_12insG ENSP00000501161.2:p.Ser5GlnfsTer?
ENST00000710286.1:c.368_369insG ENSP00000518176.1:p.Ser124GlnfsTer?
ENST00000673726.1:c.11_12insG ENSP00000501004.1:p.Ser5GlnfsTer?
ENST00000302118.5:c.11_12insG MANE Select ENSP00000303208.5:p.Ser5GlnfsTer?
NM_174936.3:c.11_12insG , LRG_275t1:c.11_12insG NP_777596.2:p.Ser5GlnfsTer?
NM_174936.4:c.11_12insG MANE Select NP_777596.2:p.Ser5GlnfsTer?
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