Canonical Allele Identifier: CA2686357475

Gene: LPL

Linked Data

• gnomAD v4: 8-19939449-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939451_19939452del , CM000670.2:g.19939451_19939452del	GRCh38
NC_000008.10:g.19796962_19796963del , CM000670.1:g.19796962_19796963del	GRCh37
NC_000008.9:g.19841242_19841243del	NCBI36
NG_008855.1:g.5381_5382del
NG_008855.2:g.42735_42736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.11_12del MANE Select	ENSP00000497642.1:p.Lys4SerfsTer?
ENST00000311322.8:c.11_12del	ENSP00000309757.6:p.Lys4SerfsTer?
ENST00000519773.1:c.11_12del	ENSP00000431028.1:p.Lys4SerfsTer?
ENST00000520959.5:c.-140-8729_-140-8728del	ENSP00000428496.1:n.-140-8729_-140-8728del
ENST00000521994.1:n.196_197del
ENST00000522701.5:c.11_12del	ENSP00000428557.1:p.Lys4SerfsTer?
ENST00000523696.1:n.80_81del
ENST00000524029.5:c.11_12del	ENSP00000428237.1:p.Lys4SerfsTer?
NM_000237.2:c.11_12del	NP_000228.1:p.Lys4SerfsTer?
NM_000237.3:c.11_12del MANE Select	NP_000228.1:p.Lys4SerfsTer?