Canonical Allele Identifier: CA22765520

Gene: PCSK9

Linked Data

• dbSNP Id: rs36120999
• gnomAD v4: 1-55059523-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059527del , CM000663.2:g.55059527del	GRCh38
NC_000001.10:g.55525200del , CM000663.1:g.55525200del	GRCh37
NC_000001.9:g.55297788del	NCBI36
NG_009061.1:g.24981del , LRG_275:g.24981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1545del	ENSP00000501161.2:p.Phe515LeufsTer?
ENST00000710286.1:c.1902del	ENSP00000518176.1:p.Phe634LeufsTer?
ENST00000673903.1:c.1170del	ENSP00000501257.1:p.Phe390LeufsTer?
ENST00000673913.1:c.285del	ENSP00000501161.1:p.Phe95LeufsTer?
ENST00000302118.5:c.1545del MANE Select	ENSP00000303208.5:p.Phe515LeufsTer?
ENST00000490692.1:n.2227+880del
NM_174936.3:c.1545del , LRG_275t1:c.1545del	NP_777596.2:p.Phe515LeufsTer?
NR_110451.1:n.1152del
XM_011541193.1:c.666del	XP_011539495.1:p.Phe222LeufsTer?
NM_174936.4:c.1545del MANE Select	NP_777596.2:p.Phe515LeufsTer?
NR_110451.2:n.1152del