Canonical Allele Identifier: CA173371092

Gene: LPL

Linked Data

• dbSNP Id: rs973095042
• gnomAD v2: 8-19796965-C-CCCT
• gnomAD v3: 8-19939454-C-CCCT
• gnomAD v4: 8-19939454-C-CCCT
• MyVariant Identifiers: chr8:g.19796965_19796966insCCT (hg19) ; chr8:g.19939454_19939455insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939455_19939457dup , CM000670.2:g.19939455_19939457dup	GRCh38
NC_000008.10:g.19796966_19796968dup , CM000670.1:g.19796966_19796968dup	GRCh37
NC_000008.9:g.19841246_19841248dup	NCBI36
NG_008855.1:g.5385_5387dup
NG_008855.2:g.42739_42741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.15_17dup MANE Select	ENSP00000497642.1:p.Leu6_Leu7insLeu
ENST00000311322.8:c.15_17dup	ENSP00000309757.6:p.Leu6_Leu7insLeu
ENST00000519773.1:c.15_17dup	ENSP00000431028.1:p.Leu6_Leu7insLeu
ENST00000520959.5:c.-140-8725_-140-8723dup	ENSP00000428496.1:n.-140-8725_-140-8723dup
ENST00000521994.1:n.200_202dup
ENST00000522701.5:c.15_17dup	ENSP00000428557.1:p.Leu6_Leu7insLeu
ENST00000523696.1:n.84_86dup
ENST00000524029.5:c.15_17dup	ENSP00000428237.1:p.Leu6_Leu7insLeu
NM_000237.2:c.15_17dup	NP_000228.1:p.Leu6_Leu7insLeu
NM_000237.3:c.15_17dup MANE Select	NP_000228.1:p.Leu6_Leu7insLeu