Canonical Allele Identifier: CA1111556884

Gene: LPL

Linked Data

• dbSNP Id: rs2070051420
• gnomAD v3: 8-19962787-CTG-C
• gnomAD v4: 8-19962787-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19962789_19962790del , CM000670.2:g.19962789_19962790del	GRCh38
NC_000008.10:g.19820300_19820301del , CM000670.1:g.19820300_19820301del	GRCh37
NC_000008.9:g.19864580_19864581del	NCBI36
NG_008855.1:g.28719_28720del
NG_008855.2:g.66073_66074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.1427+570_1427+571del MANE Select	ENSP00000497642.1:n.1427+570_1427+571del
ENST00000650478.1:c.367+570_367+571del	ENSP00000497560.1:n.367+570_367+571del
ENST00000311322.8:c.1427+570_1427+571del	ENSP00000309757.6:n.1427+570_1427+571del
NM_000237.2:c.1427+570_1427+571del	NP_000228.1:n.1427+570_1427+571del
NM_000237.3:c.1427+570_1427+571del MANE Select	NP_000228.1:n.1427+570_1427+571del