Canonical Allele Identifier: CA2695882064
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs2100250775

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039879_55039881dup , CM000663.2:g.55039879_55039881dup GRCh38
NC_000001.10:g.55505552_55505554dup , CM000663.1:g.55505552_55505554dup GRCh37
NC_000001.9:g.55278140_55278142dup NCBI36
NG_009061.1:g.5333_5335dup , LRG_275:g.5333_5335dup

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.42_44dup ENSP00000501161.2:p.Leu15_Leu16insLeu
ENST00000710286.1:c.399_401dup ENSP00000518176.1:p.Leu134_Leu135insLeu
ENST00000673726.1:c.42_44dup ENSP00000501004.1:p.Leu15_Leu16insLeu
ENST00000302118.5:c.42_44dup MANE Select ENSP00000303208.5:p.Leu15_Leu16insLeu
NM_174936.3:c.42_44dup , LRG_275t1:c.42_44dup NP_777596.2:p.Leu15_Leu16insLeu
NM_174936.4:c.42_44dup MANE Select NP_777596.2:p.Leu15_Leu16insLeu