Canonical Allele Identifier: CA1167986654

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644781239
• gnomAD v4: 1-55063784-TCCCCAGGTGGAGGTGCCAGGAAGCTCCCTCCCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063786_55063820del , CM000663.2:g.55063786_55063820del	GRCh38
NC_000001.10:g.55529459_55529493del , CM000663.1:g.55529459_55529493del	GRCh37
NC_000001.9:g.55302047_55302081del	NCBI36
NG_009061.1:g.29240_29274del , LRG_275:g.29240_29274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*621_*655del	ENSP00000501161.2:n.*621_*655del
ENST00000710286.1:c.*202_*236del	ENSP00000518176.1:n.*202_*236del
ENST00000673903.1:c.*202_*236del	ENSP00000501257.1:n.*202_*236del
ENST00000302118.5:c.*202_*236del MANE Select	ENSP00000303208.5:n.*202_*236del
ENST00000490692.1:n.2827_2861del
NM_174936.3:c.*202_*236del , LRG_275t1:c.*202_*236del	NP_777596.2:n.*202_*236del
NR_110451.1:n.1888_1922del
XM_011541193.1:c.*202_*236del	XP_011539495.1:n.*202_*236del
NM_174936.4:c.*202_*236del MANE Select	NP_777596.2:n.*202_*236del
NR_110451.2:n.1888_1922del