Canonical Allele Identifier: CA737023242
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039902_55039903insGCTCCT , CM000663.2:g.55039902_55039903insGCTCCT GRCh38
NC_000001.10:g.55505575_55505576insGCTCCT , CM000663.1:g.55505575_55505576insGCTCCT GRCh37
NC_000001.9:g.55278163_55278164insGCTCCT NCBI36
NG_009061.1:g.5356_5357insGCTCCT , LRG_275:g.5356_5357insGCTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.65_66insGCTCCT ENSP00000501161.2:p.Leu22_Leu23insLeuLeu
ENST00000710286.1:c.422_423insGCTCCT ENSP00000518176.1:p.Leu141_Leu142insLeuLeu
ENST00000673726.1:c.65_66insGCTCCT ENSP00000501004.1:p.Leu22_Leu23insLeuLeu
ENST00000302118.5:c.65_66insGCTCCT MANE Select ENSP00000303208.5:p.Leu22_Leu23insLeuLeu
NM_174936.3:c.65_66insGCTCCT , LRG_275t1:c.65_66insGCTCCT NP_777596.2:p.Leu22_Leu23insLeuLeu
NM_174936.4:c.65_66insGCTCCT MANE Select NP_777596.2:p.Leu22_Leu23insLeuLeu