Canonical Allele Identifier: CA1167986573

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644779555
• gnomAD v3: 1-55063601-TG-T
• gnomAD v4: 1-55063601-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063604del , CM000663.2:g.55063604del	GRCh38
NC_000001.10:g.55529277del , CM000663.1:g.55529277del	GRCh37
NC_000001.9:g.55301865del	NCBI36
NG_009061.1:g.29058del , LRG_275:g.29058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*439del	ENSP00000501161.2:n.*439del
ENST00000710286.1:c.*20del	ENSP00000518176.1:n.*20del
ENST00000673903.1:c.*20del	ENSP00000501257.1:n.*20del
ENST00000302118.5:c.*20del MANE Select	ENSP00000303208.5:n.*20del
ENST00000490692.1:n.2645del
NM_174936.3:c.*20del , LRG_275t1:c.*20del	NP_777596.2:n.*20del
NR_110451.1:n.1706del
XM_011541193.1:c.*20del	XP_011539495.1:n.*20del
NM_174936.4:c.*20del MANE Select	NP_777596.2:n.*20del
NR_110451.2:n.1706del