Canonical Allele Identifier: CA2645841574

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059726-C-CCCAACAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059726_55059727insCCAACAGG , CM000663.2:g.55059726_55059727insCCAACAGG	GRCh38
NC_000001.10:g.55525399_55525400insCCAACAGG , CM000663.1:g.55525399_55525400insCCAACAGG	GRCh37
NC_000001.9:g.55297987_55297988insCCAACAGG	NCBI36
NG_009061.1:g.25180_25181insCCAACAGG , LRG_275:g.25180_25181insCCAACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+63_1681+64insCCAACAGG	ENSP00000501161.2:n.1681+63_1681+64insCCAACAGG
ENST00000710286.1:c.2038+63_2038+64insCCAACAGG	ENSP00000518176.1:n.2038+63_2038+64insCCAACAGG
ENST00000673903.1:c.1306+63_1306+64insCCAACAGG	ENSP00000501257.1:n.1306+63_1306+64insCCAACAGG
ENST00000673913.1:c.421+63_421+64insCCAACAGG	ENSP00000501161.1:n.421+63_421+64insCCAACAGG
ENST00000302118.5:c.1681+63_1681+64insCCAACAGG MANE Select	ENSP00000303208.5:n.1681+63_1681+64insCCAACAGG
ENST00000490692.1:n.2227+1079_2227+1080insCCAACAGG
NM_174936.3:c.1681+63_1681+64insCCAACAGG , LRG_275t1:c.1681+63_1681+64insCCAACAGG	NP_777596.2:n.1681+63_1681+64insCCAACAGG
NR_110451.1:n.1288+63_1288+64insCCAACAGG
XM_011541193.1:c.802+63_802+64insCCAACAGG	XP_011539495.1:n.802+63_802+64insCCAACAGG
NM_174936.4:c.1681+63_1681+64insCCAACAGG MANE Select	NP_777596.2:n.1681+63_1681+64insCCAACAGG
NR_110451.2:n.1288+63_1288+64insCCAACAGG