Canonical Allele Identifier: CA2645840437

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3072800
• ClinVar RCV Id: RCV004013822
• gnomAD v4: 1-55063463-C-CGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063466_55063469dup , CM000663.2:g.55063466_55063469dup	GRCh38
NC_000001.10:g.55529139_55529142dup , CM000663.1:g.55529139_55529142dup	GRCh37
NC_000001.9:g.55301727_55301730dup	NCBI36
NG_009061.1:g.28920_28923dup , LRG_275:g.28920_28923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*301_*304dup	ENSP00000501161.2:n.*301_*304dup
ENST00000710286.1:c.2318_2321dup	ENSP00000518176.1:p.Val775CysfsTer?
ENST00000673903.1:c.1586_1589dup	ENSP00000501257.1:p.Val531CysfsTer?
ENST00000673913.1:c.811_814dup	ENSP00000501161.1:n.811_814dup
ENST00000302118.5:c.1961_1964dup MANE Select	ENSP00000303208.5:p.Val656CysfsTer?
ENST00000490692.1:n.2507_2510dup
NM_174936.3:c.1961_1964dup , LRG_275t1:c.1961_1964dup	NP_777596.2:p.Val656CysfsTer?
NR_110451.1:n.1568_1571dup
XM_011541193.1:c.1082_1085dup	XP_011539495.1:p.Val363CysfsTer?
NM_174936.4:c.1961_1964dup MANE Select	NP_777596.2:p.Val656CysfsTer?
NR_110451.2:n.1568_1571dup