Canonical Allele Identifier: CA1167985723

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061517_55061519delinsCAA , CM000663.2:g.55061517_55061519delinsCAA	GRCh38
NC_000001.10:g.55527190_55527192delinsCAA , CM000663.1:g.55527190_55527192delinsCAA	GRCh37
NC_000001.9:g.55299778_55299780delinsCAA	NCBI36
NG_009061.1:g.26971_26973delinsCAA , LRG_275:g.26971_26973delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*164_*166delinsCAA	ENSP00000501161.2:n.*164_*166delinsCAA
ENST00000710286.1:c.2181_2183delinsCAA	ENSP00000518176.1:p.Cys727=
ENST00000673903.1:c.1449_1451delinsCAA	ENSP00000501257.1:p.Cys483=
ENST00000673913.1:c.674_676delinsCAA	ENSP00000501161.1:n.674_676delinsCAA
ENST00000302118.5:c.1824_1826delinsCAA MANE Select	ENSP00000303208.5:p.Cys608=
ENST00000490692.1:n.2370_2372delinsCAA
NM_174936.3:c.1824_1826delinsCAA , LRG_275t1:c.1824_1826delinsCAA	NP_777596.2:p.Cys608=
NR_110451.1:n.1431_1433delinsCAA
XM_011541193.1:c.945_947delinsCAA	XP_011539495.1:p.Cys315=
NM_174936.4:c.1824_1826delinsCAA MANE Select	NP_777596.2:p.Cys608=
NR_110451.2:n.1431_1433delinsCAA