Canonical Allele Identifier: CA1111556524
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs324
gnomAD v3: 8-19961702-CAAAAA-C
gnomAD v4: 8-19961702-CAAAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961709_19961713del , CM000670.2:g.19961709_19961713del GRCh38
NC_000008.10:g.19819220_19819224del , CM000670.1:g.19819220_19819224del GRCh37
NC_000008.9:g.19863500_19863504del NCBI36
NG_008855.1:g.27639_27643del
NG_008855.2:g.64993_64997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-406_1323-402del MANE Select ENSP00000497642.1:n.1323-406_1323-402del
ENST00000650478.1:c.263-406_263-402del ENSP00000497560.1:n.263-406_263-402del
ENST00000311322.8:c.1323-406_1323-402del ENSP00000309757.6:n.1323-406_1323-402del
NM_000237.2:c.1323-406_1323-402del NP_000228.1:n.1323-406_1323-402del
NM_000237.3:c.1323-406_1323-402del MANE Select NP_000228.1:n.1323-406_1323-402del
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