Canonical Allele Identifier: CA2574381375

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063562del , CM000663.2:g.55063562del	GRCh38
NC_000001.10:g.55529235del , CM000663.1:g.55529235del	GRCh37
NC_000001.9:g.55301823del	NCBI36
NG_009061.1:g.29016del , LRG_275:g.29016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*397del	ENSP00000501161.2:n.*397del
ENST00000710286.1:c.2414del	ENSP00000518176.1:p.Gln805ArgfsTer?
ENST00000673903.1:c.1682del	ENSP00000501257.1:p.Gln561ArgfsTer?
ENST00000302118.5:c.2057del MANE Select	ENSP00000303208.5:p.Gln686ArgfsTer?
ENST00000490692.1:n.2603del
NM_174936.3:c.2057del , LRG_275t1:c.2057del	NP_777596.2:p.Gln686ArgfsTer?
NR_110451.1:n.1664del
XM_011541193.1:c.1178del	XP_011539495.1:p.Gln393ArgfsTer?
NM_174936.4:c.2057del MANE Select	NP_777596.2:p.Gln686ArgfsTer?
NR_110451.2:n.1664del