Canonical Allele Identifier: CA2645843470

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063315-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063320del , CM000663.2:g.55063320del	GRCh38
NC_000001.10:g.55528993del , CM000663.1:g.55528993del	GRCh37
NC_000001.9:g.55301581del	NCBI36
NG_009061.1:g.28774del , LRG_275:g.28774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*204-49del	ENSP00000501161.2:n.*204-49del
ENST00000710286.1:c.2221-49del	ENSP00000518176.1:n.2221-49del
ENST00000673903.1:c.1489-49del	ENSP00000501257.1:n.1489-49del
ENST00000673913.1:c.714-49del	ENSP00000501161.1:n.714-49del
ENST00000302118.5:c.1864-49del MANE Select	ENSP00000303208.5:n.1864-49del
ENST00000490692.1:n.2410-49del
NM_174936.3:c.1864-49del , LRG_275t1:c.1864-49del	NP_777596.2:n.1864-49del
NR_110451.1:n.1471-49del
XM_011541193.1:c.985-49del	XP_011539495.1:n.985-49del
NM_174936.4:c.1864-49del MANE Select	NP_777596.2:n.1864-49del
NR_110451.2:n.1471-49del