Canonical Allele Identifier: CA2645840804

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063784-TCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063786_55063788del , CM000663.2:g.55063786_55063788del	GRCh38
NC_000001.10:g.55529459_55529461del , CM000663.1:g.55529459_55529461del	GRCh37
NC_000001.9:g.55302047_55302049del	NCBI36
NG_009061.1:g.29240_29242del , LRG_275:g.29240_29242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*621_*623del	ENSP00000501161.2:n.*621_*623del
ENST00000710286.1:c.*202_*204del	ENSP00000518176.1:n.*202_*204del
ENST00000673903.1:c.*202_*204del	ENSP00000501257.1:n.*202_*204del
ENST00000302118.5:c.*202_*204del MANE Select	ENSP00000303208.5:n.*202_*204del
ENST00000490692.1:n.2827_2829del
NM_174936.3:c.*202_*204del , LRG_275t1:c.*202_*204del	NP_777596.2:n.*202_*204del
NR_110451.1:n.1888_1890del
XM_011541193.1:c.*202_*204del	XP_011539495.1:n.*202_*204del
NM_174936.4:c.*202_*204del MANE Select	NP_777596.2:n.*202_*204del
NR_110451.2:n.1888_1890del