Canonical Allele Identifier: CA1769112572
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2070051559

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962811_19962813del , CM000670.2:g.19962811_19962813del GRCh38
NC_000008.10:g.19820322_19820324del , CM000670.1:g.19820322_19820324del GRCh37
NC_000008.9:g.19864602_19864604del NCBI36
NG_008855.1:g.28741_28743del
NG_008855.2:g.66095_66097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+592_1427+594del MANE Select ENSP00000497642.1:n.1427+592_1427+594del
ENST00000650478.1:c.367+592_367+594del ENSP00000497560.1:n.367+592_367+594del
ENST00000311322.8:c.1427+592_1427+594del ENSP00000309757.6:n.1427+592_1427+594del
NM_000237.2:c.1427+592_1427+594del NP_000228.1:n.1427+592_1427+594del
NM_000237.3:c.1427+592_1427+594del MANE Select NP_000228.1:n.1427+592_1427+594del