Canonical Allele Identifier: CA2574381383

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063609-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063613del , CM000663.2:g.55063613del	GRCh38
NC_000001.10:g.55529286del , CM000663.1:g.55529286del	GRCh37
NC_000001.9:g.55301874del	NCBI36
NG_009061.1:g.29067del , LRG_275:g.29067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*448del	ENSP00000501161.2:n.*448del
ENST00000710286.1:c.*29del	ENSP00000518176.1:n.*29del
ENST00000673903.1:c.*29del	ENSP00000501257.1:n.*29del
ENST00000302118.5:c.*29del MANE Select	ENSP00000303208.5:n.*29del
ENST00000490692.1:n.2654del
NM_174936.3:c.*29del , LRG_275t1:c.*29del	NP_777596.2:n.*29del
NR_110451.1:n.1715del
XM_011541193.1:c.*29del	XP_011539495.1:n.*29del
NM_174936.4:c.*29del MANE Select	NP_777596.2:n.*29del
NR_110451.2:n.1715del