Canonical Allele Identifier: CA2686360193

Gene: LPL

Linked Data

• gnomAD v4: 8-19952069-T-TAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19952069_19952070insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC , CM000670.2:g.19952069_19952070insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC	GRCh38
NC_000008.10:g.19809580_19809581insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC , CM000670.1:g.19809580_19809581insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC	GRCh37
NC_000008.9:g.19853860_19853861insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC	NCBI36
NG_008855.1:g.17999_18000insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC
NG_008855.2:g.55353_55354insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC MANE Select	ENSP00000497642.1:n.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAG...
ENST00000311322.8:c.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC	ENSP00000309757.6:n.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAG...
ENST00000520959.5:c.201+121_201+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC	ENSP00000428496.1:n.201+121_201+122insAAGAGAAAAGGAAGAAAGAACAG...
NM_000237.2:c.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC	NP_000228.1:n.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTT...
NM_000237.3:c.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTTTTC MANE Select	NP_000228.1:n.429+121_429+122insAAGAGAAAAGGAAGAAAGAACAGCCGGTT...