Canonical Allele Identifier: CA1167985706

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061470_55061474delinsGAGGC , CM000663.2:g.55061470_55061474delinsGAGGC	GRCh38
NC_000001.10:g.55527143_55527147delinsGAGGC , CM000663.1:g.55527143_55527147delinsGAGGC	GRCh37
NC_000001.9:g.55299731_55299735delinsGAGGC	NCBI36
NG_009061.1:g.26924_26928delinsGAGGC , LRG_275:g.26924_26928delinsGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*117_*121delinsGAGGC	ENSP00000501161.2:n.*117_*121delinsGAGGC
ENST00000710286.1:c.2134_2138delinsGAGGC	ENSP00000518176.1:p.Glu712=
ENST00000673903.1:c.1402_1406delinsGAGGC	ENSP00000501257.1:p.Glu468=
ENST00000673913.1:c.627_631delinsGAGGC	ENSP00000501161.1:n.627_631delinsGAGGC
ENST00000302118.5:c.1777_1781delinsGAGGC MANE Select	ENSP00000303208.5:p.Glu593=
ENST00000490692.1:n.2323_2327delinsGAGGC
NM_174936.3:c.1777_1781delinsGAGGC , LRG_275t1:c.1777_1781delinsGAGGC	NP_777596.2:p.Glu593=
NR_110451.1:n.1384_1388delinsGAGGC
XM_011541193.1:c.898_902delinsGAGGC	XP_011539495.1:p.Glu300=
NM_174936.4:c.1777_1781delinsGAGGC MANE Select	NP_777596.2:p.Glu593=
NR_110451.2:n.1384_1388delinsGAGGC