Canonical Allele Identifier: CA2645838025

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55044073-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044074del , CM000663.2:g.55044074del	GRCh38
NC_000001.10:g.55509747del , CM000663.1:g.55509747del	GRCh37
NC_000001.9:g.55282335del	NCBI36
NG_009061.1:g.9528del , LRG_275:g.9528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.399+40del	ENSP00000501161.2:n.399+40del
ENST00000710286.1:c.756+40del	ENSP00000518176.1:n.756+40del
ENST00000673662.1:n.69+40del
ENST00000673726.1:c.399+40del	ENSP00000501004.1:n.399+40del
ENST00000673903.1:c.24+40del	ENSP00000501257.1:n.24+40del
ENST00000302118.5:c.399+40del MANE Select	ENSP00000303208.5:n.399+40del
NM_174936.3:c.399+40del , LRG_275t1:c.399+40del	NP_777596.2:n.399+40del
NR_110451.1:n.182+3671del
NM_174936.4:c.399+40del MANE Select	NP_777596.2:n.399+40del
NR_110451.2:n.182+3671del