Canonical Allele Identifier: CA2740098019
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 3066297
ClinVar RCV Id: RCV003991301
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951905_19951908del , CM000670.2:g.19951905_19951908del GRCh38
NC_000008.10:g.19809416_19809419del , CM000670.1:g.19809416_19809419del GRCh37
NC_000008.9:g.19853696_19853699del NCBI36
NG_008855.1:g.17835_17838del
NG_008855.2:g.55189_55192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.386_389del MANE Select ENSP00000497642.1:p.Lys129ArgfsTer?
ENST00000311322.8:c.386_389del ENSP00000309757.6:p.Lys129ArgfsTer?
ENST00000520959.5:c.158_161del ENSP00000428496.1:p.Lys53ArgfsTer?
ENST00000524029.5:c.386_389del ENSP00000428237.1:p.Lys129=
NM_000237.2:c.386_389del NP_000228.1:p.Lys129ArgfsTer?
NM_000237.3:c.386_389del MANE Select NP_000228.1:p.Lys129ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'