Canonical Allele Identifier: CA2825000986

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052732_55052733insTGCGCAGCC , CM000663.2:g.55052732_55052733insTGCGCAGCC	GRCh38
NC_000001.10:g.55518405_55518406insTGCGCAGCC , CM000663.1:g.55518405_55518406insTGCGCAGCC	GRCh37
NC_000001.9:g.55290993_55290994insTGCGCAGCC	NCBI36
NG_009061.1:g.18186_18187insTGCGCAGCC , LRG_275:g.18186_18187insTGCGCAGCC

Transcript Alleles

HGVS	Amino-acid Change
NM_174936.4:c.740_741insTGCGCAGCC MANE Select	NP_777596.2:p.Met247delinsIleAlaGlnPro
ENST00000302118.5:c.740_741insTGCGCAGCC MANE Select	ENSP00000303208.5:p.Met247delinsIleAlaGlnPro
NM_174936.3:c.740_741insTGCGCAGCC , LRG_275t1:c.740_741insTGCGCAGCC	NP_777596.2:p.Met247delinsIleAlaGlnPro
NR_110451.1:n.399_400insTGCGCAGCC
NR_110451.2:n.399_400insTGCGCAGCC
ENST00000490692.1:n.1561_1562insTGCGCAGCC
ENST00000673903.1:c.365_366insTGCGCAGCC	ENSP00000501257.1:p.Met122delinsIleAlaGlnPro
ENST00000673913.2:c.740_741insTGCGCAGCC	ENSP00000501161.2:p.Met247delinsIleAlaGlnPro
ENST00000710286.1:c.1097_1098insTGCGCAGCC	ENSP00000518176.1:p.Met366delinsIleAlaGlnPro