Canonical Allele Identifier: CA2645836578
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039713-GCCCTGCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039716_55039722del , CM000663.2:g.55039716_55039722del GRCh38
NC_000001.10:g.55505389_55505395del , CM000663.1:g.55505389_55505395del GRCh37
NC_000001.9:g.55277977_55277983del NCBI36
NG_009061.1:g.5170_5176del , LRG_275:g.5170_5176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-122_-116del ENSP00000501161.2:n.-122_-116del
ENST00000710286.1:c.236_242del ENSP00000518176.1:p.Pro79LeufsTer26
ENST00000673726.1:c.-122_-116del ENSP00000501004.1:n.-122_-116del
ENST00000302118.5:c.-122_-116del MANE Select ENSP00000303208.5:n.-122_-116del
NM_174936.3:c.-122_-116del , LRG_275t1:c.-122_-116del NP_777596.2:n.-122_-116del
NM_174936.4:c.-122_-116del MANE Select NP_777596.2:n.-122_-116del
Search 100 bp 5'
Search 100 bp 3'