Canonical Allele Identifier: CA2686360141
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19951793-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951794del , CM000670.2:g.19951794del GRCh38
NC_000008.10:g.19809305del , CM000670.1:g.19809305del GRCh37
NC_000008.9:g.19853585del NCBI36
NG_008855.1:g.17724del
NG_008855.2:g.55078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.275del MANE Select ENSP00000497642.1:p.Val92GlyfsTer?
ENST00000311322.8:c.275del ENSP00000309757.6:p.Val92GlyfsTer?
ENST00000520959.5:c.47del ENSP00000428496.1:p.Val16GlyfsTer?
ENST00000521994.1:n.532del
ENST00000522701.5:c.275del ENSP00000428557.1:p.Val92GlyfsTer?
ENST00000524029.5:c.275del ENSP00000428237.1:p.Val92GlyfsTer?
NM_000237.2:c.275del NP_000228.1:p.Val92GlyfsTer?
NM_000237.3:c.275del MANE Select NP_000228.1:p.Val92GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'