Canonical Allele Identifier: CA2645840668

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063720-T-TCCTCATTTTTACGGGTAACAGTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063720_55063721insCCTCATTTTTACGGGTAACAGTGAG , CM000663.2:g.55063720_55063721insCCTCATTTTTACGGGTAACAGTGAG	GRCh38
NC_000001.10:g.55529393_55529394insCCTCATTTTTACGGGTAACAGTGAG , CM000663.1:g.55529393_55529394insCCTCATTTTTACGGGTAACAGTGAG	GRCh37
NC_000001.9:g.55301981_55301982insCCTCATTTTTACGGGTAACAGTGAG	NCBI36
NG_009061.1:g.29174_29175insCCTCATTTTTACGGGTAACAGTGAG , LRG_275:g.29174_29175insCCTCATTTTTACGGGTAACAGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*555_*556insCCTCATTTTTACGGGTAACAGTGAG	ENSP00000501161.2:n.*555_*556insCCTCATTTTTACGGGTAACAGTGAG
ENST00000710286.1:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG	ENSP00000518176.1:n.*136_*137insCCTCATTTTTACGGGTAACAGTGAG
ENST00000673903.1:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG	ENSP00000501257.1:n.*136_*137insCCTCATTTTTACGGGTAACAGTGAG
ENST00000302118.5:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG MANE Select	ENSP00000303208.5:n.*136_*137insCCTCATTTTTACGGGTAACAGTGAG
ENST00000490692.1:n.2761_2762insCCTCATTTTTACGGGTAACAGTGAG
NM_174936.3:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG , LRG_275t1:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG	NP_777596.2:n.*136_*137insCCTCATTTTTACGGGTAACAGTGAG
NR_110451.1:n.1822_1823insCCTCATTTTTACGGGTAACAGTGAG
XM_011541193.1:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG	XP_011539495.1:n.*136_*137insCCTCATTTTTACGGGTAACAGTGAG
NM_174936.4:c.*136_*137insCCTCATTTTTACGGGTAACAGTGAG MANE Select	NP_777596.2:n.*136_*137insCCTCATTTTTACGGGTAACAGTGAG
NR_110451.2:n.1822_1823insCCTCATTTTTACGGGTAACAGTGAG