Canonical Allele Identifier: CA2645840880
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063838_55063842del , CM000663.2:g.55063838_55063842del GRCh38
NC_000001.10:g.55529511_55529515del , CM000663.1:g.55529511_55529515del GRCh37
NC_000001.9:g.55302099_55302103del NCBI36
NG_009061.1:g.29292_29296del , LRG_275:g.29292_29296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*673_*677del ENSP00000501161.2:n.*673_*677del
ENST00000710286.1:c.*254_*258del ENSP00000518176.1:n.*254_*258del
ENST00000673903.1:c.*254_*258del ENSP00000501257.1:n.*254_*258del
ENST00000302118.5:c.*254_*258del MANE Select ENSP00000303208.5:n.*254_*258del
ENST00000490692.1:n.2879_2883del
NM_174936.3:c.*254_*258del , LRG_275t1:c.*254_*258del NP_777596.2:n.*254_*258del
NR_110451.1:n.1940_1944del
XM_011541193.1:c.*254_*258del XP_011539495.1:n.*254_*258del
NM_174936.4:c.*254_*258del MANE Select NP_777596.2:n.*254_*258del
NR_110451.2:n.1940_1944del