Canonical Allele Identifier: CA2594230673
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2128839967
gnomAD v3: 8-19962977-GC-G
gnomAD v4: 8-19962977-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962979del , CM000670.2:g.19962979del GRCh38
NC_000008.10:g.19820490del , CM000670.1:g.19820490del GRCh37
NC_000008.9:g.19864770del NCBI36
NG_008855.1:g.28909del
NG_008855.2:g.66263del

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1427+760del MANE Select ENSP00000497642.1:n.1427+760del
ENST00000650478.1:c.367+760del ENSP00000497560.1:n.367+760del
ENST00000311322.8:c.1427+760del ENSP00000309757.6:n.1427+760del
NM_000237.2:c.1427+760del NP_000228.1:n.1427+760del
NM_000237.3:c.1427+760del MANE Select NP_000228.1:n.1427+760del
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