Canonical Allele Identifier: CA580158057

Gene: LPL

Linked Data

• dbSNP Id: rs1448042533
• gnomAD v2: 8-19814842-AAAG-A
• gnomAD v3: 8-19957331-AAAG-A
• gnomAD v4: 8-19957331-AAAG-A
• MyVariant Identifiers: chr8:g.19814843_19814845del (hg19) ; chr8:g.19957332_19957334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19957334_19957336del , CM000670.2:g.19957334_19957336del	GRCh38
NC_000008.10:g.19814845_19814847del , CM000670.1:g.19814845_19814847del	GRCh37
NC_000008.9:g.19859125_19859127del	NCBI36
NG_008855.1:g.23264_23266del
NG_008855.2:g.60618_60620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.1018+1251_1018+1253del MANE Select	ENSP00000497642.1:n.1018+1251_1018+1253del
ENST00000650478.1:c.79+1251_79+1253del	ENSP00000497560.1:n.79+1251_79+1253del
ENST00000311322.8:c.1018+1251_1018+1253del	ENSP00000309757.6:n.1018+1251_1018+1253del
NM_000237.2:c.1018+1251_1018+1253del	NP_000228.1:n.1018+1251_1018+1253del
NM_000237.3:c.1018+1251_1018+1253del MANE Select	NP_000228.1:n.1018+1251_1018+1253del