Canonical Allele Identifier: CA2743687373
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063823_55063824del , CM000663.2:g.55063823_55063824del GRCh38
NC_000001.10:g.55529496_55529497del , CM000663.1:g.55529496_55529497del GRCh37
NC_000001.9:g.55302084_55302085del NCBI36
NG_009061.1:g.29277_29278del , LRG_275:g.29277_29278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*658_*659del ENSP00000501161.2:n.*658_*659del
ENST00000710286.1:c.*239_*240del ENSP00000518176.1:n.*239_*240del
ENST00000673903.1:c.*239_*240del ENSP00000501257.1:n.*239_*240del
ENST00000302118.5:c.*239_*240del MANE Select ENSP00000303208.5:n.*239_*240del
ENST00000490692.1:n.2864_2865del
NM_174936.3:c.*239_*240del , LRG_275t1:c.*239_*240del NP_777596.2:n.*239_*240del
NR_110451.1:n.1925_1926del
XM_011541193.1:c.*239_*240del XP_011539495.1:n.*239_*240del
NM_174936.4:c.*239_*240del MANE Select NP_777596.2:n.*239_*240del
NR_110451.2:n.1925_1926del
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