Canonical Allele Identifier: CA2573142626
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1427499
ClinVar RCV Id: RCV001933736
dbSNP Id: rs2128838150
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954150_19954166del , CM000670.2:g.19954150_19954166del GRCh38
NC_000008.10:g.19811661_19811677del , CM000670.1:g.19811661_19811677del GRCh37
NC_000008.9:g.19855941_19855957del NCBI36
NG_008855.1:g.20080_20096del
NG_008855.2:g.57434_57450del

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.572_588del MANE Select ENSP00000497642.1:p.Tyr191SerfsTer5
ENST00000311322.8:c.572_588del ENSP00000309757.6:p.Tyr191SerfsTer5
NM_000237.2:c.572_588del NP_000228.1:p.Tyr191SerfsTer5
NM_000237.3:c.572_588del MANE Select NP_000228.1:p.Tyr191SerfsTer5
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