Canonical Allele Identifier: CA2645840688

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063725-G-GGAAGGGGAACACAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063725_55063726insGAAGGGGAACACAGA , CM000663.2:g.55063725_55063726insGAAGGGGAACACAGA	GRCh38
NC_000001.10:g.55529398_55529399insGAAGGGGAACACAGA , CM000663.1:g.55529398_55529399insGAAGGGGAACACAGA	GRCh37
NC_000001.9:g.55301986_55301987insGAAGGGGAACACAGA	NCBI36
NG_009061.1:g.29179_29180insGAAGGGGAACACAGA , LRG_275:g.29179_29180insGAAGGGGAACACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*560_*561insGAAGGGGAACACAGA	ENSP00000501161.2:n.*560_*561insGAAGGGGAACACAGA
ENST00000710286.1:c.*141_*142insGAAGGGGAACACAGA	ENSP00000518176.1:n.*141_*142insGAAGGGGAACACAGA
ENST00000673903.1:c.*141_*142insGAAGGGGAACACAGA	ENSP00000501257.1:n.*141_*142insGAAGGGGAACACAGA
ENST00000302118.5:c.*141_*142insGAAGGGGAACACAGA MANE Select	ENSP00000303208.5:n.*141_*142insGAAGGGGAACACAGA
ENST00000490692.1:n.2766_2767insGAAGGGGAACACAGA
NM_174936.3:c.*141_*142insGAAGGGGAACACAGA , LRG_275t1:c.*141_*142insGAAGGGGAACACAGA	NP_777596.2:n.*141_*142insGAAGGGGAACACAGA
NR_110451.1:n.1827_1828insGAAGGGGAACACAGA
XM_011541193.1:c.*141_*142insGAAGGGGAACACAGA	XP_011539495.1:n.*141_*142insGAAGGGGAACACAGA
NM_174936.4:c.*141_*142insGAAGGGGAACACAGA MANE Select	NP_777596.2:n.*141_*142insGAAGGGGAACACAGA
NR_110451.2:n.1827_1828insGAAGGGGAACACAGA