Canonical Allele Identifier: CA2645837338
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039914-CGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039916_55039917del , CM000663.2:g.55039916_55039917del GRCh38
NC_000001.10:g.55505589_55505590del , CM000663.1:g.55505589_55505590del GRCh37
NC_000001.9:g.55278177_55278178del NCBI36
NG_009061.1:g.5370_5371del , LRG_275:g.5370_5371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.79_80del ENSP00000501161.2:p.Gly27ArgfsTer?
ENST00000710286.1:c.436_437del ENSP00000518176.1:p.Gly146ArgfsTer?
ENST00000673726.1:c.79_80del ENSP00000501004.1:p.Gly27ArgfsTer?
ENST00000302118.5:c.79_80del MANE Select ENSP00000303208.5:p.Gly27ArgfsTer?
NM_174936.3:c.79_80del , LRG_275t1:c.79_80del NP_777596.2:p.Gly27ArgfsTer?
NM_174936.4:c.79_80del MANE Select NP_777596.2:p.Gly27ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'