Canonical Allele Identifier: CA849557572
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1157968403
gnomAD v3: 8-19952016-GTTCT-G
gnomAD v4: 8-19952016-GTTCT-G
MyVariant Identifiers: chr8:g.19809528_19809531del (hg19) chr8:g.19952017_19952020del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952022_19952025del , CM000670.2:g.19952022_19952025del GRCh38
NC_000008.10:g.19809533_19809536del , CM000670.1:g.19809533_19809536del GRCh37
NC_000008.9:g.19853813_19853816del NCBI36
NG_008855.1:g.17952_17955del
NG_008855.2:g.55306_55309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+74_429+77del MANE Select ENSP00000497642.1:n.429+74_429+77del
ENST00000311322.8:c.429+74_429+77del ENSP00000309757.6:n.429+74_429+77del
ENST00000520959.5:c.201+74_201+77del ENSP00000428496.1:n.201+74_201+77del
NM_000237.2:c.429+74_429+77del NP_000228.1:n.429+74_429+77del
NM_000237.3:c.429+74_429+77del MANE Select NP_000228.1:n.429+74_429+77del
Search 100 bp 5'
Search 100 bp 3'