Canonical Allele Identifier: CA849556943

Gene: LPL

Linked Data

• dbSNP Id: rs1270341881
• gnomAD v3: 8-19951627-TTC-T
• gnomAD v4: 8-19951627-TTC-T
• MyVariant Identifiers: chr8:g.19809139_19809140del (hg19) ; chr8:g.19951628_19951629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951629_19951630del , CM000670.2:g.19951629_19951630del	GRCh38
NC_000008.10:g.19809140_19809141del , CM000670.1:g.19809140_19809141del	GRCh37
NC_000008.9:g.19853420_19853421del	NCBI36
NG_008855.1:g.17559_17560del
NG_008855.2:g.54913_54914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-140_250-139del MANE Select	ENSP00000497642.1:n.250-140_250-139del
ENST00000311322.8:c.250-140_250-139del	ENSP00000309757.6:n.250-140_250-139del
ENST00000520959.5:c.22-140_22-139del	ENSP00000428496.1:n.22-140_22-139del
ENST00000521994.1:n.435-68_435-67del
ENST00000522701.5:c.250-140_250-139del	ENSP00000428557.1:n.250-140_250-139del
ENST00000524029.5:c.250-140_250-139del	ENSP00000428237.1:n.250-140_250-139del
NM_000237.2:c.250-140_250-139del	NP_000228.1:n.250-140_250-139del
NM_000237.3:c.250-140_250-139del MANE Select	NP_000228.1:n.250-140_250-139del