Canonical Allele Identifier: CA2645840636
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063709-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063712del , CM000663.2:g.55063712del GRCh38
NC_000001.10:g.55529385del , CM000663.1:g.55529385del GRCh37
NC_000001.9:g.55301973del NCBI36
NG_009061.1:g.29166del , LRG_275:g.29166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*547del ENSP00000501161.2:n.*547del
ENST00000710286.1:c.*128del ENSP00000518176.1:n.*128del
ENST00000673903.1:c.*128del ENSP00000501257.1:n.*128del
ENST00000302118.5:c.*128del MANE Select ENSP00000303208.5:n.*128del
ENST00000490692.1:n.2753del
NM_174936.3:c.*128del , LRG_275t1:c.*128del NP_777596.2:n.*128del
NR_110451.1:n.1814del
XM_011541193.1:c.*128del XP_011539495.1:n.*128del
NM_174936.4:c.*128del MANE Select NP_777596.2:n.*128del
NR_110451.2:n.1814del
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