Canonical Allele Identifier: CA2574381382

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063605_55063607del , CM000663.2:g.55063605_55063607del	GRCh38
NC_000001.10:g.55529278_55529280del , CM000663.1:g.55529278_55529280del	GRCh37
NC_000001.9:g.55301866_55301868del	NCBI36
NG_009061.1:g.29059_29061del , LRG_275:g.29059_29061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*440_*442del	ENSP00000501161.2:n.*440_*442del
ENST00000710286.1:c.*21_*23del	ENSP00000518176.1:n.*21_*23del
ENST00000673903.1:c.*21_*23del	ENSP00000501257.1:n.*21_*23del
ENST00000302118.5:c.*21_*23del MANE Select	ENSP00000303208.5:n.*21_*23del
ENST00000490692.1:n.2646_2648del
NM_174936.3:c.*21_*23del , LRG_275t1:c.*21_*23del	NP_777596.2:n.*21_*23del
NR_110451.1:n.1707_1709del
XM_011541193.1:c.*21_*23del	XP_011539495.1:n.*21_*23del
NM_174936.4:c.*21_*23del MANE Select	NP_777596.2:n.*21_*23del
NR_110451.2:n.1707_1709del