Canonical Allele Identifier: CA2645835906
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039498-T-TGTA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039499_55039500insTAG , CM000663.2:g.55039499_55039500insTAG GRCh38
NC_000001.10:g.55505172_55505173insTAG , CM000663.1:g.55505172_55505173insTAG GRCh37
NC_000001.9:g.55277760_55277761insTAG NCBI36
NG_009061.1:g.4953_4954insTAG , LRG_275:g.4953_4954insTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-339_-338insTAG ENSP00000501161.2:n.-339_-338insTAG
ENST00000710286.1:c.19_20insTAG ENSP00000518176.1:p.Arg6_Asp7insVal
ENST00000673726.1:c.-339_-338insTAG ENSP00000501004.1:n.-339_-338insTAG
NM_174936.3:c.-339_-338insTAG , LRG_275t1:c.-339_-338insTAG NP_777596.2:n.-339_-338insTAG
Search 100 bp 5'
Search 100 bp 3'