Canonical Allele Identifier: CA2645840841
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063806-AGCTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063807_55063810del , CM000663.2:g.55063807_55063810del GRCh38
NC_000001.10:g.55529480_55529483del , CM000663.1:g.55529480_55529483del GRCh37
NC_000001.9:g.55302068_55302071del NCBI36
NG_009061.1:g.29261_29264del , LRG_275:g.29261_29264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*642_*645del ENSP00000501161.2:n.*642_*645del
ENST00000710286.1:c.*223_*226del ENSP00000518176.1:n.*223_*226del
ENST00000673903.1:c.*223_*226del ENSP00000501257.1:n.*223_*226del
ENST00000302118.5:c.*223_*226del MANE Select ENSP00000303208.5:n.*223_*226del
ENST00000490692.1:n.2848_2851del
NM_174936.3:c.*223_*226del , LRG_275t1:c.*223_*226del NP_777596.2:n.*223_*226del
NR_110451.1:n.1909_1912del
XM_011541193.1:c.*223_*226del XP_011539495.1:n.*223_*226del
NM_174936.4:c.*223_*226del MANE Select NP_777596.2:n.*223_*226del
NR_110451.2:n.1909_1912del
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