Canonical Allele Identifier: CA1167986540

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063527_55063528delinsCG , CM000663.2:g.55063527_55063528delinsCG	GRCh38
NC_000001.10:g.55529200_55529201delinsCG , CM000663.1:g.55529200_55529201delinsCG	GRCh37
NC_000001.9:g.55301788_55301789delinsCG	NCBI36
NG_009061.1:g.28981_28982delinsCG , LRG_275:g.28981_28982delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*362_*363delinsCG	ENSP00000501161.2:n.*362_*363delinsCG
ENST00000710286.1:c.2379_2380delinsCG	ENSP00000518176.1:p.Ala793=
ENST00000673903.1:c.1647_1648delinsCG	ENSP00000501257.1:p.Ala549=
ENST00000673913.1:c.872_873delinsCG	ENSP00000501161.1:n.872_873delinsCG
ENST00000302118.5:c.2022_2023delinsCG MANE Select	ENSP00000303208.5:p.Ala674=
ENST00000490692.1:n.2568_2569delinsCG
NM_174936.3:c.2022_2023delinsCG , LRG_275t1:c.2022_2023delinsCG	NP_777596.2:p.Ala674=
NR_110451.1:n.1629_1630delinsCG
XM_011541193.1:c.1143_1144delinsCG	XP_011539495.1:p.Ala381=
NM_174936.4:c.2022_2023delinsCG MANE Select	NP_777596.2:p.Ala674=
NR_110451.2:n.1629_1630delinsCG