Canonical Allele Identifier: CA2645840469
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063583-G-GACAGCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063585_55063592dup , CM000663.2:g.55063585_55063592dup GRCh38
NC_000001.10:g.55529258_55529265dup , CM000663.1:g.55529258_55529265dup GRCh37
NC_000001.9:g.55301846_55301853dup NCBI36
NG_009061.1:g.29039_29046dup , LRG_275:g.29039_29046dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*420_*427dup ENSP00000501161.2:n.*420_*427dup
ENST00000710286.1:c.*1_*8dup ENSP00000518176.1:n.*1_*8dup
ENST00000673903.1:c.*1_*8dup ENSP00000501257.1:n.*1_*8dup
ENST00000302118.5:c.*1_*8dup MANE Select ENSP00000303208.5:n.*1_*8dup
ENST00000490692.1:n.2626_2633dup
NM_174936.3:c.*1_*8dup , LRG_275t1:c.*1_*8dup NP_777596.2:n.*1_*8dup
NR_110451.1:n.1687_1694dup
XM_011541193.1:c.*1_*8dup XP_011539495.1:n.*1_*8dup
NM_174936.4:c.*1_*8dup MANE Select NP_777596.2:n.*1_*8dup
NR_110451.2:n.1687_1694dup
Search 100 bp 5'
Search 100 bp 3'