Canonical Allele Identifier: CA737022741
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1432062179
MyVariant Identifiers: chr1:g.55505285_55505290del (hg19) chr1:g.55039612_55039617del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039612_55039617del , CM000663.2:g.55039612_55039617del GRCh38
NC_000001.10:g.55505285_55505290del , CM000663.1:g.55505285_55505290del GRCh37
NC_000001.9:g.55277873_55277878del NCBI36
NG_009061.1:g.5066_5071del , LRG_275:g.5066_5071del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-226_-221del ENSP00000501161.2:n.-226_-221del
ENST00000710286.1:c.132_137del ENSP00000518176.1:p.Gly45_Val46del
ENST00000673726.1:c.-226_-221del ENSP00000501004.1:n.-226_-221del
ENST00000302118.5:c.-226_-221del MANE Select ENSP00000303208.5:n.-226_-221del
NM_174936.3:c.-226_-221del , LRG_275t1:c.-226_-221del NP_777596.2:n.-226_-221del
NM_174936.4:c.-226_-221del MANE Select NP_777596.2:n.-226_-221del
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