Canonical Allele Identifier: CA2594231172
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2128839736
gnomAD v3: 8-19961701-AC-A
gnomAD v4: 8-19961701-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961702del , CM000670.2:g.19961702del GRCh38
NC_000008.10:g.19819213del , CM000670.1:g.19819213del GRCh37
NC_000008.9:g.19863493del NCBI36
NG_008855.1:g.27632del
NG_008855.2:g.64986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-413del MANE Select ENSP00000497642.1:n.1323-413del
ENST00000650478.1:c.263-413del ENSP00000497560.1:n.263-413del
ENST00000311322.8:c.1323-413del ENSP00000309757.6:n.1323-413del
NM_000237.2:c.1323-413del NP_000228.1:n.1323-413del
NM_000237.3:c.1323-413del MANE Select NP_000228.1:n.1323-413del
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