Canonical Allele Identifier: CA849565373

Gene: LPL

Linked Data

• dbSNP Id: rs1489511827
• gnomAD v3: 8-19962836-CCTTTAGGG-C
• gnomAD v4: 8-19962836-CCTTTAGGG-C
• MyVariant Identifiers: chr8:g.19820348_19820355del (hg19) ; chr8:g.19962837_19962844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19962839_19962846del , CM000670.2:g.19962839_19962846del	GRCh38
NC_000008.10:g.19820350_19820357del , CM000670.1:g.19820350_19820357del	GRCh37
NC_000008.9:g.19864630_19864637del	NCBI36
NG_008855.1:g.28769_28776del
NG_008855.2:g.66123_66130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.1427+620_1427+627del MANE Select	ENSP00000497642.1:n.1427+620_1427+627del
ENST00000650478.1:c.367+620_367+627del	ENSP00000497560.1:n.367+620_367+627del
ENST00000311322.8:c.1427+620_1427+627del	ENSP00000309757.6:n.1427+620_1427+627del
NM_000237.2:c.1427+620_1427+627del	NP_000228.1:n.1427+620_1427+627del
NM_000237.3:c.1427+620_1427+627del MANE Select	NP_000228.1:n.1427+620_1427+627del