Canonical Allele Identifier: CA2645840874
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063834-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063836del , CM000663.2:g.55063836del GRCh38
NC_000001.10:g.55529509del , CM000663.1:g.55529509del GRCh37
NC_000001.9:g.55302097del NCBI36
NG_009061.1:g.29290del , LRG_275:g.29290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*671del ENSP00000501161.2:n.*671del
ENST00000710286.1:c.*252del ENSP00000518176.1:n.*252del
ENST00000673903.1:c.*252del ENSP00000501257.1:n.*252del
ENST00000302118.5:c.*252del MANE Select ENSP00000303208.5:n.*252del
ENST00000490692.1:n.2877del
NM_174936.3:c.*252del , LRG_275t1:c.*252del NP_777596.2:n.*252del
NR_110451.1:n.1938del
XM_011541193.1:c.*252del XP_011539495.1:n.*252del
NM_174936.4:c.*252del MANE Select NP_777596.2:n.*252del
NR_110451.2:n.1938del
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