Canonical Allele Identifier: CA2645837927
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55043692-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043697del , CM000663.2:g.55043697del GRCh38
NC_000001.10:g.55509370del , CM000663.1:g.55509370del GRCh37
NC_000001.9:g.55281958del NCBI36
NG_009061.1:g.9151del , LRG_275:g.9151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.208-146del ENSP00000501161.2:n.208-146del
ENST00000710286.1:c.565-146del ENSP00000518176.1:n.565-146del
ENST00000673726.1:c.208-146del ENSP00000501004.1:n.208-146del
ENST00000673903.1:c.-168-146del ENSP00000501257.1:n.-168-146del
ENST00000302118.5:c.208-146del MANE Select ENSP00000303208.5:n.208-146del
NM_174936.3:c.208-146del , LRG_275t1:c.208-146del NP_777596.2:n.208-146del
NR_110451.1:n.182+3294del
NM_174936.4:c.208-146del MANE Select NP_777596.2:n.208-146del
NR_110451.2:n.182+3294del
Search 100 bp 5'
Search 100 bp 3'