Canonical Allele Identifier: CA1001921817

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644758808
• gnomAD v3: 1-55061517-CAA-C
• gnomAD v4: 1-55061517-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061519_55061520del , CM000663.2:g.55061519_55061520del	GRCh38
NC_000001.10:g.55527192_55527193del , CM000663.1:g.55527192_55527193del	GRCh37
NC_000001.9:g.55299780_55299781del	NCBI36
NG_009061.1:g.26973_26974del , LRG_275:g.26973_26974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*166_*167del	ENSP00000501161.2:n.*166_*167del
ENST00000710286.1:c.2183_2184del	ENSP00000518176.1:p.Lys728SerfsTer?
ENST00000673903.1:c.1451_1452del	ENSP00000501257.1:p.Lys484SerfsTer?
ENST00000673913.1:c.676_677del	ENSP00000501161.1:n.676_677del
ENST00000302118.5:c.1826_1827del MANE Select	ENSP00000303208.5:p.Lys609SerfsTer?
ENST00000490692.1:n.2372_2373del
NM_174936.3:c.1826_1827del , LRG_275t1:c.1826_1827del	NP_777596.2:p.Lys609SerfsTer?
NR_110451.1:n.1433_1434del
XM_011541193.1:c.947_948del	XP_011539495.1:p.Lys316SerfsTer?
NM_174936.4:c.1826_1827del MANE Select	NP_777596.2:p.Lys609SerfsTer?
NR_110451.2:n.1433_1434del