Canonical Allele Identifier: CA580502396

Gene: LPL

Linked Data

• dbSNP Id: rs1227209433
• gnomAD v2: 8-19809340-C-CAAATAACAGAA
• MyVariant Identifiers: chr8:g.19809340_19809341insAAATAACAGAA (hg19) ; chr8:g.19951829_19951830insAAATAACAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951829_19951830insAAATAACAGAA , CM000670.2:g.19951829_19951830insAAATAACAGAA	GRCh38
NC_000008.10:g.19809340_19809341insAAATAACAGAA , CM000670.1:g.19809340_19809341insAAATAACAGAA	GRCh37
NC_000008.9:g.19853620_19853621insAAATAACAGAA	NCBI36
NG_008855.1:g.17759_17760insAAATAACAGAA
NG_008855.2:g.55113_55114insAAATAACAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.310_311insAAATAACAGAA MANE Select	ENSP00000497642.1:p.Pro104GlnfsTer?
ENST00000311322.8:c.310_311insAAATAACAGAA	ENSP00000309757.6:p.Pro104GlnfsTer?
ENST00000520959.5:c.82_83insAAATAACAGAA	ENSP00000428496.1:p.Pro28GlnfsTer?
ENST00000522701.5:c.310_311insAAATAACAGAA	ENSP00000428557.1:p.Pro104GlnfsTer?
ENST00000524029.5:c.310_311insAAATAACAGAA	ENSP00000428237.1:p.Pro104GlnfsTer?
NM_000237.2:c.310_311insAAATAACAGAA	NP_000228.1:p.Pro104GlnfsTer?
NM_000237.3:c.310_311insAAATAACAGAA MANE Select	NP_000228.1:p.Pro104GlnfsTer?