Canonical Allele Identifier: CA2573142632
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1418720
ClinVar RCV Id: RCV001931017
dbSNP Id: rs2128838546
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955997del , CM000670.2:g.19955997del GRCh38
NC_000008.10:g.19813508del , CM000670.1:g.19813508del GRCh37
NC_000008.9:g.19857788del NCBI36
NG_008855.1:g.21927del
NG_008855.2:g.59281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.932del MANE Select ENSP00000497642.1:p.Asn311ThrfsTer20
ENST00000311322.8:c.932del ENSP00000309757.6:p.Asn311ThrfsTer20
NM_000237.2:c.932del NP_000228.1:p.Asn311ThrfsTer20
NM_000237.3:c.932del MANE Select NP_000228.1:p.Asn311ThrfsTer20
Search 100 bp 5'
Search 100 bp 3'