Canonical Allele Identifier: CA1140607412

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059524_55059527delinsTTTT , CM000663.2:g.55059524_55059527delinsTTTT	GRCh38
NC_000001.10:g.55525197_55525200delinsTTTT , CM000663.1:g.55525197_55525200delinsTTTT	GRCh37
NC_000001.9:g.55297785_55297788delinsTTTT	NCBI36
NG_009061.1:g.24978_24981delinsTTTT , LRG_275:g.24978_24981delinsTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1542_1545delinsTTTT	ENSP00000501161.2:p.Ala514=
ENST00000710286.1:c.1899_1902delinsTTTT	ENSP00000518176.1:p.Ala633=
ENST00000673903.1:c.1167_1170delinsTTTT	ENSP00000501257.1:p.Ala389=
ENST00000673913.1:c.282_285delinsTTTT	ENSP00000501161.1:p.Ala94=
ENST00000302118.5:c.1542_1545delinsTTTT MANE Select	ENSP00000303208.5:p.Ala514=
ENST00000490692.1:n.2227+877_2227+880delinsTTTT
NM_174936.3:c.1542_1545delinsTTTT , LRG_275t1:c.1542_1545delinsTTTT	NP_777596.2:p.Ala514=
NR_110451.1:n.1149_1152delinsTTTT
XM_011541193.1:c.663_666delinsTTTT	XP_011539495.1:p.Ala221=
NM_174936.4:c.1542_1545delinsTTTT MANE Select	NP_777596.2:p.Ala514=
NR_110451.2:n.1149_1152delinsTTTT