Canonical Allele Identifier: CA2695882651

Gene: PCSK9

Linked Data

• dbSNP Id: rs2100251192

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039897_55039898insTTG , CM000663.2:g.55039897_55039898insTTG	GRCh38
NC_000001.10:g.55505570_55505571insTTG , CM000663.1:g.55505570_55505571insTTG	GRCh37
NC_000001.9:g.55278158_55278159insTTG	NCBI36
NG_009061.1:g.5351_5352insTTG , LRG_275:g.5351_5352insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.60_61insTTG	ENSP00000501161.2:p.Leu20_Leu21insLeu
ENST00000710286.1:c.417_418insTTG	ENSP00000518176.1:p.Leu139_Leu140insLeu
ENST00000673726.1:c.60_61insTTG	ENSP00000501004.1:p.Leu20_Leu21insLeu
ENST00000302118.5:c.60_61insTTG MANE Select	ENSP00000303208.5:p.Leu20_Leu21insLeu
NM_174936.3:c.60_61insTTG , LRG_275t1:c.60_61insTTG	NP_777596.2:p.Leu20_Leu21insLeu
NM_174936.4:c.60_61insTTG MANE Select	NP_777596.2:p.Leu20_Leu21insLeu