Canonical Allele Identifier: CA2695208922
Gene: LPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951867_19951868insAGTACCATTCGACAGTC , CM000670.2:g.19951867_19951868insAGTACCATTCGACAGTC GRCh38
NC_000008.10:g.19809378_19809379insAGTACCATTCGACAGTC , CM000670.1:g.19809378_19809379insAGTACCATTCGACAGTC GRCh37
NC_000008.9:g.19853658_19853659insAGTACCATTCGACAGTC NCBI36
NG_008855.1:g.17797_17798insAGTACCATTCGACAGTC
NG_008855.2:g.55151_55152insAGTACCATTCGACAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.348_349insAGTACCATTCGACAGTC MANE Select ENSP00000497642.1:p.Ala117SerfsTer?
ENST00000311322.8:c.348_349insAGTACCATTCGACAGTC ENSP00000309757.6:p.Ala117SerfsTer?
ENST00000520959.5:c.120_121insAGTACCATTCGACAGTC ENSP00000428496.1:p.Ala41SerfsTer?
ENST00000524029.5:c.348_349insAGTACCATTCGACAGTC ENSP00000428237.1:p.Ala117SerfsTer?
NM_000237.2:c.348_349insAGTACCATTCGACAGTC NP_000228.1:p.Ala117SerfsTer?
NM_000237.3:c.348_349insAGTACCATTCGACAGTC MANE Select NP_000228.1:p.Ala117SerfsTer?