Canonical Allele Identifier: CA2505518756

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061569_55061570insGGATTCCATGCTCCT , CM000663.2:g.55061569_55061570insGGATTCCATGCTCCT	GRCh38
NC_000001.10:g.55527242_55527243insGGATTCCATGCTCCT , CM000663.1:g.55527242_55527243insGGATTCCATGCTCCT	GRCh37
NC_000001.9:g.55299830_55299831insGGATTCCATGCTCCT	NCBI36
NG_009061.1:g.27023_27024insGGATTCCATGCTCCT , LRG_275:g.27023_27024insGGATTCCATGCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*203+13_*203+14insGGATTCCATGCTCCT	ENSP00000501161.2:n.*203+13_*203+14insGGATTCCATGCTCCT
ENST00000710286.1:c.2220+13_2220+14insGGATTCCATGCTCCT	ENSP00000518176.1:n.2220+13_2220+14insGGATTCCATGCTCCT
ENST00000673903.1:c.1488+13_1488+14insGGATTCCATGCTCCT	ENSP00000501257.1:n.1488+13_1488+14insGGATTCCATGCTCCT
ENST00000673913.1:c.713+13_713+14insGGATTCCATGCTCCT	ENSP00000501161.1:n.713+13_713+14insGGATTCCATGCTCCT
ENST00000302118.5:c.1863+13_1863+14insGGATTCCATGCTCCT MANE Select	ENSP00000303208.5:n.1863+13_1863+14insGGATTCCATGCTCCT
ENST00000490692.1:n.2409+13_2409+14insGGATTCCATGCTCCT
NM_174936.3:c.1863+13_1863+14insGGATTCCATGCTCCT , LRG_275t1:c.1863+13_1863+14insGGATTCCATGCTCCT	NP_777596.2:n.1863+13_1863+14insGGATTCCATGCTCCT
NR_110451.1:n.1470+13_1470+14insGGATTCCATGCTCCT
XM_011541193.1:c.984+13_984+14insGGATTCCATGCTCCT	XP_011539495.1:n.984+13_984+14insGGATTCCATGCTCCT
NM_174936.4:c.1863+13_1863+14insGGATTCCATGCTCCT MANE Select	NP_777596.2:n.1863+13_1863+14insGGATTCCATGCTCCT
NR_110451.2:n.1470+13_1470+14insGGATTCCATGCTCCT