Canonical Allele Identifier: CA2956922543

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063540_55063542del , CM000663.2:g.55063540_55063542del	GRCh38
NC_000001.10:g.55529213_55529215del , CM000663.1:g.55529213_55529215del	GRCh37
NC_000001.9:g.55301801_55301803del	NCBI36
NG_009061.1:g.28994_28996del , LRG_275:g.28994_28996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*375_*377del	ENSP00000501161.2:n.*375_*377del
ENST00000710286.1:c.2392_2394del	ENSP00000518176.1:p.Cys798del
ENST00000673903.1:c.1660_1662del	ENSP00000501257.1:p.Cys554del
ENST00000302118.5:c.2035_2037del MANE Select	ENSP00000303208.5:p.Cys679del
ENST00000490692.1:n.2581_2583del
NM_174936.3:c.2035_2037del , LRG_275t1:c.2035_2037del	NP_777596.2:p.Cys679del
NR_110451.1:n.1642_1644del
XM_011541193.1:c.1156_1158del	XP_011539495.1:p.Cys386del
NM_174936.4:c.2035_2037del MANE Select	NP_777596.2:p.Cys679del
NR_110451.2:n.1642_1644del