Canonical Allele Identifier: CA2645840463
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063569-CCAGGAGCTCCAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063570_55063581del , CM000663.2:g.55063570_55063581del GRCh38
NC_000001.10:g.55529243_55529254del , CM000663.1:g.55529243_55529254del GRCh37
NC_000001.9:g.55301831_55301842del NCBI36
NG_009061.1:g.29024_29035del , LRG_275:g.29024_29035del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*405_*416del ENSP00000501161.2:n.*405_*416del
ENST00000710286.1:c.2422_2433del ENSP00000518176.1:p.Gln808_Gln811del
ENST00000673903.1:c.1690_1701del ENSP00000501257.1:p.Gln564_Gln567del
ENST00000302118.5:c.2065_2076del MANE Select ENSP00000303208.5:p.Gln689_Gln692del
ENST00000490692.1:n.2611_2622del
NM_174936.3:c.2065_2076del , LRG_275t1:c.2065_2076del NP_777596.2:p.Gln689_Gln692del
NR_110451.1:n.1672_1683del
XM_011541193.1:c.1186_1197del XP_011539495.1:p.Gln396_Gln399del
NM_174936.4:c.2065_2076del MANE Select NP_777596.2:p.Gln689_Gln692del
NR_110451.2:n.1672_1683del
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