Canonical Allele Identifier: CA2586966705

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061517-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061520del , CM000663.2:g.55061520del	GRCh38
NC_000001.10:g.55527193del , CM000663.1:g.55527193del	GRCh37
NC_000001.9:g.55299781del	NCBI36
NG_009061.1:g.26974del , LRG_275:g.26974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*167del	ENSP00000501161.2:n.*167del
ENST00000710286.1:c.2184del	ENSP00000518176.1:p.Val729SerfsTer13
ENST00000673903.1:c.1452del	ENSP00000501257.1:p.Val485SerfsTer13
ENST00000673913.1:c.677del	ENSP00000501161.1:n.677del
ENST00000302118.5:c.1827del MANE Select	ENSP00000303208.5:p.Val610SerfsTer13
ENST00000490692.1:n.2373del
NM_174936.3:c.1827del , LRG_275t1:c.1827del	NP_777596.2:p.Val610SerfsTer13
NR_110451.1:n.1434del
XM_011541193.1:c.948del	XP_011539495.1:p.Val317SerfsTer13
NM_174936.4:c.1827del MANE Select	NP_777596.2:p.Val610SerfsTer13
NR_110451.2:n.1434del