Canonical Allele Identifier: CA737003359

Gene: PCSK9

Linked Data

• dbSNP Id: rs1376022216
• gnomAD v3: 1-55059384-AG-A
• gnomAD v4: 1-55059384-AG-A
• MyVariant Identifiers: chr1:g.55525058del (hg19) ; chr1:g.55059385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059387del , CM000663.2:g.55059387del	GRCh38
NC_000001.10:g.55525060del , CM000663.1:g.55525060del	GRCh37
NC_000001.9:g.55297648del	NCBI36
NG_009061.1:g.24841del , LRG_275:g.24841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1504-99del	ENSP00000501161.2:n.1504-99del
ENST00000710286.1:c.1861-99del	ENSP00000518176.1:n.1861-99del
ENST00000673903.1:c.1129-99del	ENSP00000501257.1:n.1129-99del
ENST00000673913.1:c.244-99del	ENSP00000501161.1:n.244-99del
ENST00000302118.5:c.1504-99del MANE Select	ENSP00000303208.5:n.1504-99del
ENST00000490692.1:n.2227+740del
NM_174936.3:c.1504-99del , LRG_275t1:c.1504-99del	NP_777596.2:n.1504-99del
NR_110451.1:n.1111-99del
XM_011541193.1:c.625-99del	XP_011539495.1:n.625-99del
NM_174936.4:c.1504-99del MANE Select	NP_777596.2:n.1504-99del
NR_110451.2:n.1111-99del