Canonical Allele Identifier: CA2645837978
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55043870-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043871dup , CM000663.2:g.55043871dup GRCh38
NC_000001.10:g.55509544dup , CM000663.1:g.55509544dup GRCh37
NC_000001.9:g.55282132dup NCBI36
NG_009061.1:g.9325dup , LRG_275:g.9325dup

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.236dup ENSP00000501161.2:p.Val80GlyfsTer?
ENST00000710286.1:c.593dup ENSP00000518176.1:p.Val199GlyfsTer?
ENST00000673726.1:c.236dup ENSP00000501004.1:p.Val80GlyfsTer?
ENST00000673903.1:c.-140dup ENSP00000501257.1:n.-140dup
ENST00000302118.5:c.236dup MANE Select ENSP00000303208.5:p.Val80GlyfsTer?
NM_174936.3:c.236dup , LRG_275t1:c.236dup NP_777596.2:p.Val80GlyfsTer?
NR_110451.1:n.182+3468dup
NM_174936.4:c.236dup MANE Select NP_777596.2:p.Val80GlyfsTer?
NR_110451.2:n.182+3468dup
Search 100 bp 5'
Search 100 bp 3'