Canonical Allele Identifier: CA2645837984
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55043975-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043976del , CM000663.2:g.55043976del GRCh38
NC_000001.10:g.55509649del , CM000663.1:g.55509649del GRCh37
NC_000001.9:g.55282237del NCBI36
NG_009061.1:g.9430del , LRG_275:g.9430del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.341del ENSP00000501161.2:p.Val114AlafsTer11
ENST00000710286.1:c.698del ENSP00000518176.1:p.Val233AlafsTer11
ENST00000673662.1:n.11del
ENST00000673726.1:c.341del ENSP00000501004.1:p.Val114AlafsTer11
ENST00000673903.1:c.-35del ENSP00000501257.1:n.-35del
ENST00000302118.5:c.341del MANE Select ENSP00000303208.5:p.Val114AlafsTer11
NM_174936.3:c.341del , LRG_275t1:c.341del NP_777596.2:p.Val114AlafsTer11
NR_110451.1:n.182+3573del
NM_174936.4:c.341del MANE Select NP_777596.2:p.Val114AlafsTer11
NR_110451.2:n.182+3573del
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