Canonical Allele Identifier: CA1769102879
Gene: LPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954336_19954340delinsCAGAG , CM000670.2:g.19954336_19954340delinsCAGAG GRCh38
NC_000008.10:g.19811847_19811851delinsCAGAG , CM000670.1:g.19811847_19811851delinsCAGAG GRCh37
NC_000008.9:g.19856127_19856131delinsCAGAG NCBI36
NG_008855.1:g.20266_20270delinsCAGAG
NG_008855.2:g.57620_57624delinsCAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.758_762delinsCAGAG MANE Select ENSP00000497642.1:p.Ala253=
ENST00000311322.8:c.758_762delinsCAGAG ENSP00000309757.6:p.Ala253=
NM_000237.2:c.758_762delinsCAGAG NP_000228.1:p.Ala253=
NM_000237.3:c.758_762delinsCAGAG MANE Select NP_000228.1:p.Ala253=