Canonical Allele Identifier: CA173379044
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs956487084
gnomAD v3: 8-19957803-AT-A
gnomAD v4: 8-19957803-AT-A
MyVariant Identifiers: chr8:g.19815315del (hg19) chr8:g.19957804del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957809del , CM000670.2:g.19957809del GRCh38
NC_000008.10:g.19815320del , CM000670.1:g.19815320del GRCh37
NC_000008.9:g.19859600del NCBI36
NG_008855.1:g.23739del
NG_008855.2:g.61093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-1451del MANE Select ENSP00000497642.1:n.1019-1451del
ENST00000650478.1:c.79+1726del ENSP00000497560.1:n.79+1726del
ENST00000311322.8:c.1019-1451del ENSP00000309757.6:n.1019-1451del
NM_000237.2:c.1019-1451del NP_000228.1:n.1019-1451del
NM_000237.3:c.1019-1451del MANE Select NP_000228.1:n.1019-1451del
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