Canonical Allele Identifier: CA1167981850

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053083_55053091delinsGATGTCTTT , CM000663.2:g.55053083_55053091delinsGATGTCTTT	GRCh38
NC_000001.10:g.55518756_55518764delinsGATGTCTTT , CM000663.1:g.55518756_55518764delinsGATGTCTTT	GRCh37
NC_000001.9:g.55291344_55291352delinsGATGTCTTT	NCBI36
NG_009061.1:g.18537_18545delinsGATGTCTTT , LRG_275:g.18537_18545delinsGATGTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+292_799+300delinsGATGTCTTT	ENSP00000501161.2:n.799+292_799+300delinsGATGTCTTT
ENST00000710286.1:c.1156+292_1156+300delinsGATGTCTTT	ENSP00000518176.1:n.1156+292_1156+300delinsGATGTCTTT
ENST00000673903.1:c.424+292_424+300delinsGATGTCTTT	ENSP00000501257.1:n.424+292_424+300delinsGATGTCTTT
ENST00000302118.5:c.799+292_799+300delinsGATGTCTTT MANE Select	ENSP00000303208.5:n.799+292_799+300delinsGATGTCTTT
ENST00000490692.1:n.1620+292_1620+300delinsGATGTCTTT
NM_174936.3:c.799+292_799+300delinsGATGTCTTT , LRG_275t1:c.799+292_799+300delinsGATGTCTTT	NP_777596.2:n.799+292_799+300delinsGATGTCTTT
NR_110451.1:n.458+292_458+300delinsGATGTCTTT
NM_174936.4:c.799+292_799+300delinsGATGTCTTT MANE Select	NP_777596.2:n.799+292_799+300delinsGATGTCTTT
NR_110451.2:n.458+292_458+300delinsGATGTCTTT