Canonical Allele Identifier: CA580502395
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951828_19951829insAAAT , CM000670.2:g.19951828_19951829insAAAT GRCh38
NC_000008.10:g.19809339_19809340insAAAT , CM000670.1:g.19809339_19809340insAAAT GRCh37
NC_000008.9:g.19853619_19853620insAAAT NCBI36
NG_008855.1:g.17758_17759insAAAT
NG_008855.2:g.55112_55113insAAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.309_310insAAAT MANE Select ENSP00000497642.1:p.Pro104LysfsTer?
ENST00000311322.8:c.309_310insAAAT ENSP00000309757.6:p.Pro104LysfsTer?
ENST00000520959.5:c.81_82insAAAT ENSP00000428496.1:p.Pro28LysfsTer?
ENST00000522701.5:c.309_310insAAAT ENSP00000428557.1:p.Pro104LysfsTer?
ENST00000524029.5:c.309_310insAAAT ENSP00000428237.1:p.Pro104LysfsTer?
NM_000237.2:c.309_310insAAAT NP_000228.1:p.Pro104LysfsTer?
NM_000237.3:c.309_310insAAAT MANE Select NP_000228.1:p.Pro104LysfsTer?