Canonical Allele Identifier: CA2695888607

Gene: PCSK9

Linked Data

• dbSNP Id: rs2100331171

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059646_55059648del , CM000663.2:g.55059646_55059648del	GRCh38
NC_000001.10:g.55525319_55525321del , CM000663.1:g.55525319_55525321del	GRCh37
NC_000001.9:g.55297907_55297909del	NCBI36
NG_009061.1:g.25100_25102del , LRG_275:g.25100_25102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1664_1666del	ENSP00000501161.2:p.Gln555_Gly556delinsArg
ENST00000710286.1:c.2021_2023del	ENSP00000518176.1:p.Gln674_Gly675delinsArg
ENST00000673903.1:c.1289_1291del	ENSP00000501257.1:p.Gln430_Gly431delinsArg
ENST00000673913.1:c.404_406del	ENSP00000501161.1:p.Gln135_Gly136delinsArg
ENST00000302118.5:c.1664_1666del MANE Select	ENSP00000303208.5:p.Gln555_Gly556delinsArg
ENST00000490692.1:n.2227+999_2227+1001del
NM_174936.3:c.1664_1666del , LRG_275t1:c.1664_1666del	NP_777596.2:p.Gln555_Gly556delinsArg
NR_110451.1:n.1271_1273del
XM_011541193.1:c.785_787del	XP_011539495.1:p.Gln262_Gly263delinsArg
NM_174936.4:c.1664_1666del MANE Select	NP_777596.2:p.Gln555_Gly556delinsArg
NR_110451.2:n.1271_1273del