Canonical Allele Identifier: CA2645841032

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059527-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059532del , CM000663.2:g.55059532del	GRCh38
NC_000001.10:g.55525205del , CM000663.1:g.55525205del	GRCh37
NC_000001.9:g.55297793del	NCBI36
NG_009061.1:g.24986del , LRG_275:g.24986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1550del	ENSP00000501161.2:p.Gly517ValfsTer?
ENST00000710286.1:c.1907del	ENSP00000518176.1:p.Gly636ValfsTer?
ENST00000673903.1:c.1175del	ENSP00000501257.1:p.Gly392ValfsTer?
ENST00000673913.1:c.290del	ENSP00000501161.1:p.Gly97ValfsTer?
ENST00000302118.5:c.1550del MANE Select	ENSP00000303208.5:p.Gly517ValfsTer?
ENST00000490692.1:n.2227+885del
NM_174936.3:c.1550del , LRG_275t1:c.1550del	NP_777596.2:p.Gly517ValfsTer?
NR_110451.1:n.1157del
XM_011541193.1:c.671del	XP_011539495.1:p.Gly224ValfsTer?
NM_174936.4:c.1550del MANE Select	NP_777596.2:p.Gly517ValfsTer?
NR_110451.2:n.1157del