Canonical Allele Identifier: CA1111574287

Gene: LPL

Linked Data

• dbSNP Id: rs2069934274
• gnomAD v3: 8-19951553-CCTCAA-C
• gnomAD v4: 8-19951553-CCTCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951564_19951568del , CM000670.2:g.19951564_19951568del	GRCh38
NC_000008.10:g.19809075_19809079del , CM000670.1:g.19809075_19809079del	GRCh37
NC_000008.9:g.19853355_19853359del	NCBI36
NG_008855.1:g.17494_17498del
NG_008855.2:g.54848_54852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-205_250-201del MANE Select	ENSP00000497642.1:n.250-205_250-201del
ENST00000311322.8:c.250-205_250-201del	ENSP00000309757.6:n.250-205_250-201del
ENST00000520959.5:c.22-205_22-201del	ENSP00000428496.1:n.22-205_22-201del
ENST00000521994.1:n.435-133_435-129del
ENST00000522701.5:c.250-205_250-201del	ENSP00000428557.1:n.250-205_250-201del
ENST00000524029.5:c.250-205_250-201del	ENSP00000428237.1:n.250-205_250-201del
NM_000237.2:c.250-205_250-201del	NP_000228.1:n.250-205_250-201del
NM_000237.3:c.250-205_250-201del MANE Select	NP_000228.1:n.250-205_250-201del