Canonical Allele Identifier: CA2574381384

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063614_55063617del , CM000663.2:g.55063614_55063617del	GRCh38
NC_000001.10:g.55529287_55529290del , CM000663.1:g.55529287_55529290del	GRCh37
NC_000001.9:g.55301875_55301878del	NCBI36
NG_009061.1:g.29068_29071del , LRG_275:g.29068_29071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*449_*452del	ENSP00000501161.2:n.*449_*452del
ENST00000710286.1:c.*30_*33del	ENSP00000518176.1:n.*30_*33del
ENST00000673903.1:c.*30_*33del	ENSP00000501257.1:n.*30_*33del
ENST00000302118.5:c.*30_*33del MANE Select	ENSP00000303208.5:n.*30_*33del
ENST00000490692.1:n.2655_2658del
NM_174936.3:c.*30_*33del , LRG_275t1:c.*30_*33del	NP_777596.2:n.*30_*33del
NR_110451.1:n.1716_1719del
XM_011541193.1:c.*30_*33del	XP_011539495.1:n.*30_*33del
NM_174936.4:c.*30_*33del MANE Select	NP_777596.2:n.*30_*33del
NR_110451.2:n.1716_1719del