Canonical Allele Identifier: CA871496

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 492238
• ClinVar RCV Id: RCV000582590 ; RCV000776039 ; RCV002065107
• dbSNP Id: rs35115360
• ExAC: 1:55524339 CGTGTGTGTGTGT / C
• gnomAD v2: 1-55524339-CGTGTGTGTGTGT-C
• gnomAD v3: 1-55058666-CGTGTGTGTGTGT-C
• gnomAD v4: 1-55058666-CGTGTGTGTGTGT-C
• MyVariant Identifiers: chr1:g.55524380_55524391del (hg19) ; chr1:g.55524348_55524359del (hg19) ; chr1:g.55524346_55524357del (hg19) ; chr1:g.55524340_55524351del (hg19) ; chr1:g.55058707_55058718del (hg38) ; chr1:g.55058673_55058684del (hg38) ; chr1:g.55058667_55058678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058707_55058718del , CM000663.2:g.55058707_55058718del	GRCh38
NC_000001.10:g.55524380_55524391del , CM000663.1:g.55524380_55524391del	GRCh37
NC_000001.9:g.55296968_55296979del	NCBI36
NG_009061.1:g.24161_24172del , LRG_275:g.24161_24172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1503+60_1503+71del	ENSP00000501161.2:n.1503+60_1503+71del
ENST00000710286.1:c.1860+60_1860+71del	ENSP00000518176.1:n.1860+60_1860+71del
ENST00000673903.1:c.1128+60_1128+71del	ENSP00000501257.1:n.1128+60_1128+71del
ENST00000673913.1:c.243+60_243+71del	ENSP00000501161.1:n.243+60_243+71del
ENST00000302118.5:c.1503+60_1503+71del MANE Select	ENSP00000303208.5:n.1503+60_1503+71del
ENST00000490692.1:n.2227+60_2227+71del
NM_174936.3:c.1503+60_1503+71del , LRG_275t1:c.1503+60_1503+71del	NP_777596.2:n.1503+60_1503+71del
NR_110451.1:n.1110+60_1110+71del
XM_011541193.1:c.624+60_624+71del	XP_011539495.1:n.624+60_624+71del
NM_174936.4:c.1503+60_1503+71del MANE Select	NP_777596.2:n.1503+60_1503+71del
NR_110451.2:n.1110+60_1110+71del