Canonical Allele Identifier: CA645372278

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 2774071
• ClinVar RCV Id: RCV003582168
• dbSNP Id: rs1338458619
• MyVariant Identifiers: chr1:g.55529225_55529226insA (hg19) ; chr1:g.55063552_55063553insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063553dup , CM000663.2:g.55063553dup	GRCh38
NC_000001.10:g.55529226dup , CM000663.1:g.55529226dup	GRCh37
NC_000001.9:g.55301814dup	NCBI36
NG_009061.1:g.29007dup , LRG_275:g.29007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*388dup	ENSP00000501161.2:n.*388dup
ENST00000710286.1:c.2405dup	ENSP00000518176.1:p.His802GlnfsTer28
ENST00000673903.1:c.1673dup	ENSP00000501257.1:p.His558GlnfsTer28
ENST00000302118.5:c.2048dup MANE Select	ENSP00000303208.5:p.His683GlnfsTer28
ENST00000490692.1:n.2594dup
NM_174936.3:c.2048dup , LRG_275t1:c.2048dup	NP_777596.2:p.His683GlnfsTer28
NR_110451.1:n.1655dup
XM_011541193.1:c.1169dup	XP_011539495.1:p.His390GlnfsTer28
NM_174936.4:c.2048dup MANE Select	NP_777596.2:p.His683GlnfsTer28
NR_110451.2:n.1655dup