Canonical Allele Identifier: CA2579105850
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 995957
ClinVar RCV Id: RCV001526865 RCV002538389
dbSNP Id: rs1563575291
gnomAD v4: 8-19954336-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954343_19954344del , CM000670.2:g.19954343_19954344del GRCh38
NC_000008.10:g.19811854_19811855del , CM000670.1:g.19811854_19811855del GRCh37
NC_000008.9:g.19856134_19856135del NCBI36
NG_008855.1:g.20273_20274del
NG_008855.2:g.57627_57628del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.765_766del MANE Select ENSP00000497642.1:p.Gly256ThrfsTer26
ENST00000311322.8:c.765_766del ENSP00000309757.6:p.Gly256ThrfsTer26
NM_000237.2:c.765_766del NP_000228.1:p.Gly256ThrfsTer26
NM_000237.3:c.765_766del MANE Select NP_000228.1:p.Gly256ThrfsTer26
Search 100 bp 5'
Search 100 bp 3'