Canonical Allele Identifier: CA645517247

Gene: PCSK9

Linked Data

• COSMIC: COSM464787

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043906_55043907delinsAT , CM000663.2:g.55043906_55043907delinsAT	GRCh38
NC_000001.10:g.55509579_55509580delinsAT , CM000663.1:g.55509579_55509580delinsAT	GRCh37
NC_000001.9:g.55282167_55282168delinsAT	NCBI36
NG_009061.1:g.9360_9361delinsAT , LRG_275:g.9360_9361delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.271_272delinsAT	ENSP00000501161.2:p.Ser91Ile
ENST00000710286.1:c.628_629delinsAT	ENSP00000518176.1:p.Ser210Ile
ENST00000673726.1:c.271_272delinsAT	ENSP00000501004.1:p.Ser91Ile
ENST00000673903.1:c.-105_-104delinsAT	ENSP00000501257.1:n.-105_-104delinsAT
ENST00000302118.5:c.271_272delinsAT MANE Select	ENSP00000303208.5:p.Ser91Ile
NM_174936.3:c.271_272delinsAT , LRG_275t1:c.271_272delinsAT	NP_777596.2:p.Ser91Ile
NR_110451.1:n.182+3503_182+3504delinsAT
NM_174936.4:c.271_272delinsAT MANE Select	NP_777596.2:p.Ser91Ile
NR_110451.2:n.182+3503_182+3504delinsAT