Canonical Allele Identifier: CA523275373

Gene: PCSK9

Linked Data

• dbSNP Id: rs1263110535
• gnomAD v2: 1-55509420-CTT-C
• gnomAD v3: 1-55043747-CTT-C
• gnomAD v4: 1-55043747-CTT-C
• MyVariant Identifiers: chr1:g.55509421_55509422del (hg19) ; chr1:g.55043748_55043749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043750_55043751del , CM000663.2:g.55043750_55043751del	GRCh38
NC_000001.10:g.55509423_55509424del , CM000663.1:g.55509423_55509424del	GRCh37
NC_000001.9:g.55282011_55282012del	NCBI36
NG_009061.1:g.9204_9205del , LRG_275:g.9204_9205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.208-93_208-92del	ENSP00000501161.2:n.208-93_208-92del
ENST00000710286.1:c.565-93_565-92del	ENSP00000518176.1:n.565-93_565-92del
ENST00000673726.1:c.208-93_208-92del	ENSP00000501004.1:n.208-93_208-92del
ENST00000673903.1:c.-168-93_-168-92del	ENSP00000501257.1:n.-168-93_-168-92del
ENST00000302118.5:c.208-93_208-92del MANE Select	ENSP00000303208.5:n.208-93_208-92del
NM_174936.3:c.208-93_208-92del , LRG_275t1:c.208-93_208-92del	NP_777596.2:n.208-93_208-92del
NR_110451.1:n.182+3347_182+3348del
NM_174936.4:c.208-93_208-92del MANE Select	NP_777596.2:n.208-93_208-92del
NR_110451.2:n.182+3347_182+3348del