Canonical Allele Identifier: CA2743685337
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039891_55039902del , CM000663.2:g.55039891_55039902del GRCh38
NC_000001.10:g.55505564_55505575del , CM000663.1:g.55505564_55505575del GRCh37
NC_000001.9:g.55278152_55278163del NCBI36
NG_009061.1:g.5345_5356del , LRG_275:g.5345_5356del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.54_65del ENSP00000501161.2:p.Leu19_Leu22del
ENST00000710286.1:c.411_422del ENSP00000518176.1:p.Leu138_Leu141del
ENST00000673726.1:c.54_65del ENSP00000501004.1:p.Leu19_Leu22del
ENST00000302118.5:c.54_65del MANE Select ENSP00000303208.5:p.Leu19_Leu22del
NM_174936.3:c.54_65del , LRG_275t1:c.54_65del NP_777596.2:p.Leu19_Leu22del
NM_174936.4:c.54_65del MANE Select NP_777596.2:p.Leu19_Leu22del
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