Canonical Allele Identifier: CA4655361
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2149043
ClinVar RCV Id: RCV003068980
dbSNP Id: rs775770434
ExAC: 8:19809261 CT / C
gnomAD v2: 8-19809261-CT-C
gnomAD v3: 8-19951750-CT-C
gnomAD v4: 8-19951750-CT-C
MyVariant Identifiers: chr8:g.19809262del (hg19) chr8:g.19951751del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951752del , CM000670.2:g.19951752del GRCh38
NC_000008.10:g.19809263del , CM000670.1:g.19809263del GRCh37
NC_000008.9:g.19853543del NCBI36
NG_008855.1:g.17682del
NG_008855.2:g.55036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-17del MANE Select ENSP00000497642.1:n.250-17del
ENST00000311322.8:c.250-17del ENSP00000309757.6:n.250-17del
ENST00000520959.5:c.22-17del ENSP00000428496.1:n.22-17del
ENST00000521994.1:n.490del
ENST00000522701.5:c.250-17del ENSP00000428557.1:n.250-17del
ENST00000524029.5:c.250-17del ENSP00000428237.1:n.250-17del
NM_000237.2:c.250-17del NP_000228.1:n.250-17del
NM_000237.3:c.250-17del MANE Select NP_000228.1:n.250-17del
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