Canonical Allele Identifier: CA2645840461
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063567-T-TC
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*405dup ENSP00000501161.2:n.*405dup
ENST00000710286.1:c.2422dup ENSP00000518176.1:p.Gln808ProfsTer22
ENST00000673903.1:c.1690dup ENSP00000501257.1:p.Gln564ProfsTer22
ENST00000302118.5:c.2065dup MANE Select ENSP00000303208.5:p.Gln689ProfsTer22
ENST00000490692.1:n.2611dup
NM_174936.3:c.2065dup , LRG_275t1:c.2065dup NP_777596.2:p.Gln689ProfsTer22
NR_110451.1:n.1672dup
XM_011541193.1:c.1186dup XP_011539495.1:p.Gln396ProfsTer22
NM_174936.4:c.2065dup MANE Select NP_777596.2:p.Gln689ProfsTer22
NR_110451.2:n.1672dup
Search 100 bp 5'
Search 100 bp 3'