Canonical Allele Identifier: CA913189923
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1538
ClinVar RCV Id: RCV000001603 RCV000001602
dbSNP Id: rs1563575252
gnomAD v4: 8-19954319-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954320del , CM000670.2:g.19954320del GRCh38
NC_000008.10:g.19811831del , CM000670.1:g.19811831del GRCh37
NC_000008.9:g.19856111del NCBI36
NG_008855.1:g.20250del
NG_008855.2:g.57604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.742del MANE Select ENSP00000497642.1:p.Ala248LeufsTer4
ENST00000311322.8:c.742del ENSP00000309757.6:p.Ala248LeufsTer4
NM_000237.2:c.742del NP_000228.1:p.Ala248LeufsTer4
NM_000237.3:c.742del MANE Select NP_000228.1:p.Ala248LeufsTer4
Search 100 bp 5'
Search 100 bp 3'