Canonical Allele Identifier: CA1769092647

Gene: LPL

Linked Data

• ClinVar Variation Id: 2769182
• ClinVar RCV Id: RCV003578638
• dbSNP Id: rs2069901772

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19948305_19948315del , CM000670.2:g.19948305_19948315del	GRCh38
NC_000008.10:g.19805816_19805826del , CM000670.1:g.19805816_19805826del	GRCh37
NC_000008.9:g.19850096_19850106del	NCBI36
NG_008855.1:g.14235_14245del
NG_008855.2:g.51589_51599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.214_224del MANE Select	ENSP00000497642.1:p.Ser72LeufsTer14
ENST00000311322.8:c.214_224del	ENSP00000309757.6:p.Ser72LeufsTer14
ENST00000520959.5:c.-15_-5del	ENSP00000428496.1:n.-15_-5del
ENST00000521994.1:n.399_409del
ENST00000522701.5:c.214_224del	ENSP00000428557.1:p.Ser72LeufsTer14
ENST00000523696.1:n.283_293del
ENST00000524029.5:c.214_224del	ENSP00000428237.1:p.Ser72LeufsTer14
NM_000237.2:c.214_224del	NP_000228.1:p.Ser72LeufsTer14
NM_000237.3:c.214_224del MANE Select	NP_000228.1:p.Ser72LeufsTer14