Canonical Allele Identifier: CA2645840599

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063694-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063698del , CM000663.2:g.55063698del	GRCh38
NC_000001.10:g.55529371del , CM000663.1:g.55529371del	GRCh37
NC_000001.9:g.55301959del	NCBI36
NG_009061.1:g.29152del , LRG_275:g.29152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*533del	ENSP00000501161.2:n.*533del
ENST00000710286.1:c.*114del	ENSP00000518176.1:n.*114del
ENST00000673903.1:c.*114del	ENSP00000501257.1:n.*114del
ENST00000302118.5:c.*114del MANE Select	ENSP00000303208.5:n.*114del
ENST00000490692.1:n.2739del
NM_174936.3:c.*114del , LRG_275t1:c.*114del	NP_777596.2:n.*114del
NR_110451.1:n.1800del
XM_011541193.1:c.*114del	XP_011539495.1:n.*114del
NM_174936.4:c.*114del MANE Select	NP_777596.2:n.*114del
NR_110451.2:n.1800del