Canonical Allele Identifier: CA1167986491

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063406_55063416delinsGCTGCAGTGCC , CM000663.2:g.55063406_55063416delinsGCTGCAGTGCC	GRCh38
NC_000001.10:g.55529079_55529089delinsGCTGCAGTGCC , CM000663.1:g.55529079_55529089delinsGCTGCAGTGCC	GRCh37
NC_000001.9:g.55301667_55301677delinsGCTGCAGTGCC	NCBI36
NG_009061.1:g.28860_28870delinsGCTGCAGTGCC , LRG_275:g.28860_28870delinsGCTGCAGTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*241_*251delinsGCTGCAGTGCC	ENSP00000501161.2:n.*241_*251delinsGCTGCAGTGCC
ENST00000710286.1:c.2258_2268delinsGCTGCAGTGCC	ENSP00000518176.1:p.Gly753=
ENST00000673903.1:c.1526_1536delinsGCTGCAGTGCC	ENSP00000501257.1:p.Gly509=
ENST00000673913.1:c.751_761delinsGCTGCAGTGCC	ENSP00000501161.1:n.751_761delinsGCTGCAGTGCC
ENST00000302118.5:c.1901_1911delinsGCTGCAGTGCC MANE Select	ENSP00000303208.5:p.Gly634=
ENST00000490692.1:n.2447_2457delinsGCTGCAGTGCC
NM_174936.3:c.1901_1911delinsGCTGCAGTGCC , LRG_275t1:c.1901_1911delinsGCTGCAGTGCC	NP_777596.2:p.Gly634=
NR_110451.1:n.1508_1518delinsGCTGCAGTGCC
XM_011541193.1:c.1022_1032delinsGCTGCAGTGCC	XP_011539495.1:p.Gly341=
NM_174936.4:c.1901_1911delinsGCTGCAGTGCC MANE Select	NP_777596.2:p.Gly634=
NR_110451.2:n.1508_1518delinsGCTGCAGTGCC