Canonical Allele Identifier: CA1167986462

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063338_55063340delinsCAT , CM000663.2:g.55063338_55063340delinsCAT	GRCh38
NC_000001.10:g.55529011_55529013delinsCAT , CM000663.1:g.55529011_55529013delinsCAT	GRCh37
NC_000001.9:g.55301599_55301601delinsCAT	NCBI36
NG_009061.1:g.28792_28794delinsCAT , LRG_275:g.28792_28794delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*204-31_*204-29delinsCAT	ENSP00000501161.2:n.*204-31_*204-29delinsCAT
ENST00000710286.1:c.2221-31_2221-29delinsCAT	ENSP00000518176.1:n.2221-31_2221-29delinsCAT
ENST00000673903.1:c.1489-31_1489-29delinsCAT	ENSP00000501257.1:n.1489-31_1489-29delinsCAT
ENST00000673913.1:c.714-31_714-29delinsCAT	ENSP00000501161.1:n.714-31_714-29delinsCAT
ENST00000302118.5:c.1864-31_1864-29delinsCAT MANE Select	ENSP00000303208.5:n.1864-31_1864-29delinsCAT
ENST00000490692.1:n.2410-31_2410-29delinsCAT
NM_174936.3:c.1864-31_1864-29delinsCAT , LRG_275t1:c.1864-31_1864-29delinsCAT	NP_777596.2:n.1864-31_1864-29delinsCAT
NR_110451.1:n.1471-31_1471-29delinsCAT
XM_011541193.1:c.985-31_985-29delinsCAT	XP_011539495.1:n.985-31_985-29delinsCAT
NM_174936.4:c.1864-31_1864-29delinsCAT MANE Select	NP_777596.2:n.1864-31_1864-29delinsCAT
NR_110451.2:n.1471-31_1471-29delinsCAT