Canonical Allele Identifier: CA1139660383

Gene: LPL

Linked Data

• ClinVar Variation Id: 968107
• ClinVar RCV Id: RCV001243163
• dbSNP Id: rs2069936535

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951808_19951813delinsTTTGCCAAAA , CM000670.2:g.19951808_19951813delinsTTTGCCAAAA	GRCh38
NC_000008.10:g.19809319_19809324delinsTTTGCCAAAA , CM000670.1:g.19809319_19809324delinsTTTGCCAAAA	GRCh37
NC_000008.9:g.19853599_19853604delinsTTTGCCAAAA	NCBI36
NG_008855.1:g.17738_17743delinsTTTGCCAAAA
NG_008855.2:g.55092_55097delinsTTTGCCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.289_294delinsTTTGCCAAAA MANE Select	ENSP00000497642.1:p.Ala97PhefsTer?
ENST00000311322.8:c.289_294delinsTTTGCCAAAA	ENSP00000309757.6:p.Ala97PhefsTer?
ENST00000520959.5:c.61_66delinsTTTGCCAAAA	ENSP00000428496.1:p.Ala21PhefsTer?
ENST00000521994.1:n.546_551delinsTTTGCCAAAA
ENST00000522701.5:c.289_294delinsTTTGCCAAAA	ENSP00000428557.1:p.Ala97PhefsTer?
ENST00000524029.5:c.289_294delinsTTTGCCAAAA	ENSP00000428237.1:p.Ala97PhefsTer?
NM_000237.2:c.289_294delinsTTTGCCAAAA	NP_000228.1:p.Ala97PhefsTer?
NM_000237.3:c.289_294delinsTTTGCCAAAA MANE Select	NP_000228.1:p.Ala97PhefsTer?