Canonical Allele Identifier: CA1111574471
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069939338
gnomAD v3: 8-19952060-AT-A
gnomAD v4: 8-19952060-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952062del , CM000670.2:g.19952062del GRCh38
NC_000008.10:g.19809573del , CM000670.1:g.19809573del GRCh37
NC_000008.9:g.19853853del NCBI36
NG_008855.1:g.17992del
NG_008855.2:g.55346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+114del MANE Select ENSP00000497642.1:n.429+114del
ENST00000311322.8:c.429+114del ENSP00000309757.6:n.429+114del
ENST00000520959.5:c.201+114del ENSP00000428496.1:n.201+114del
NM_000237.2:c.429+114del NP_000228.1:n.429+114del
NM_000237.3:c.429+114del MANE Select NP_000228.1:n.429+114del
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