Canonical Allele Identifier: CA2645840813
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063788-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063789del , CM000663.2:g.55063789del GRCh38
NC_000001.10:g.55529462del , CM000663.1:g.55529462del GRCh37
NC_000001.9:g.55302050del NCBI36
NG_009061.1:g.29243del , LRG_275:g.29243del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*624del ENSP00000501161.2:n.*624del
ENST00000710286.1:c.*205del ENSP00000518176.1:n.*205del
ENST00000673903.1:c.*205del ENSP00000501257.1:n.*205del
ENST00000302118.5:c.*205del MANE Select ENSP00000303208.5:n.*205del
ENST00000490692.1:n.2830del
NM_174936.3:c.*205del , LRG_275t1:c.*205del NP_777596.2:n.*205del
NR_110451.1:n.1891del
XM_011541193.1:c.*205del XP_011539495.1:n.*205del
NM_174936.4:c.*205del MANE Select NP_777596.2:n.*205del
NR_110451.2:n.1891del
Search 100 bp 5'
Search 100 bp 3'