Canonical Allele Identifier: CA4655364
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2139675
ClinVar RCV Id: RCV003052721 RCV003331422 RCV003906456
dbSNP Id: rs534870395
ExAC: 8:19809266 GTCA / G
gnomAD v2: 8-19809266-GTCA-G
gnomAD v3: 8-19951755-GTCA-G
gnomAD v4: 8-19951755-GTCA-G
MyVariant Identifiers: chr8:g.19809267_19809269del (hg19) chr8:g.19951757_19951759del (hg38) chr8:g.19951756_19951758del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951761_19951763del , CM000670.2:g.19951761_19951763del GRCh38
NC_000008.10:g.19809272_19809274del , CM000670.1:g.19809272_19809274del GRCh37
NC_000008.9:g.19853552_19853554del NCBI36
NG_008855.1:g.17691_17693del
NG_008855.2:g.55045_55047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-8_250-6del MANE Select ENSP00000497642.1:n.250-8_250-6del
ENST00000311322.8:c.250-8_250-6del ENSP00000309757.6:n.250-8_250-6del
ENST00000520959.5:c.22-8_22-6del ENSP00000428496.1:n.22-8_22-6del
ENST00000521994.1:n.499_501del
ENST00000522701.5:c.250-8_250-6del ENSP00000428557.1:n.250-8_250-6del
ENST00000524029.5:c.250-8_250-6del ENSP00000428237.1:n.250-8_250-6del
NM_000237.2:c.250-8_250-6del NP_000228.1:n.250-8_250-6del
NM_000237.3:c.250-8_250-6del MANE Select NP_000228.1:n.250-8_250-6del
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