Canonical Allele Identifier: CA2574381155
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55052300-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052301dup , CM000663.2:g.55052301dup GRCh38
NC_000001.10:g.55517974dup , CM000663.1:g.55517974dup GRCh37
NC_000001.9:g.55290562dup NCBI36
NG_009061.1:g.17755dup , LRG_275:g.17755dup

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.547dup ENSP00000501161.2:p.Tyr183LeufsTer10
ENST00000710286.1:c.904dup ENSP00000518176.1:p.Tyr302LeufsTer10
ENST00000673726.1:c.*43dup ENSP00000501004.1:n.*43dup
ENST00000673903.1:c.172dup ENSP00000501257.1:p.Tyr58LeufsTer10
ENST00000302118.5:c.547dup MANE Select ENSP00000303208.5:p.Tyr183LeufsTer10
ENST00000490692.1:n.1368dup
NM_174936.3:c.547dup , LRG_275t1:c.547dup NP_777596.2:p.Tyr183LeufsTer10
NR_110451.1:n.206dup
NM_174936.4:c.547dup MANE Select NP_777596.2:p.Tyr183LeufsTer10
NR_110451.2:n.206dup
Search 100 bp 5'
Search 100 bp 3'