Canonical Allele Identifier: CA645535868

Gene: PCSK9

Linked Data

• COSMIC: COSM133484

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061461_55061462delinsAA , CM000663.2:g.55061461_55061462delinsAA	GRCh38
NC_000001.10:g.55527134_55527135delinsAA , CM000663.1:g.55527134_55527135delinsAA	GRCh37
NC_000001.9:g.55299722_55299723delinsAA	NCBI36
NG_009061.1:g.26915_26916delinsAA , LRG_275:g.26915_26916delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*108_*109delinsAA	ENSP00000501161.2:n.*108_*109delinsAA
ENST00000710286.1:c.2125_2126delinsAA	ENSP00000518176.1:p.Gly709Asn
ENST00000673903.1:c.1393_1394delinsAA	ENSP00000501257.1:p.Gly465Asn
ENST00000673913.1:c.618_619delinsAA	ENSP00000501161.1:n.618_619delinsAA
ENST00000302118.5:c.1768_1769delinsAA MANE Select	ENSP00000303208.5:p.Gly590Asn
ENST00000490692.1:n.2314_2315delinsAA
NM_174936.3:c.1768_1769delinsAA , LRG_275t1:c.1768_1769delinsAA	NP_777596.2:p.Gly590Asn
NR_110451.1:n.1375_1376delinsAA
XM_011541193.1:c.889_890delinsAA	XP_011539495.1:p.Gly297Asn
NM_174936.4:c.1768_1769delinsAA MANE Select	NP_777596.2:p.Gly590Asn
NR_110451.2:n.1375_1376delinsAA