Canonical Allele Identifier: CA849561524
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1384439266
gnomAD v3: 8-19957707-GT-G
gnomAD v4: 8-19957707-GT-G
MyVariant Identifiers: chr8:g.19815219del (hg19) chr8:g.19957708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957712del , CM000670.2:g.19957712del GRCh38
NC_000008.10:g.19815223del , CM000670.1:g.19815223del GRCh37
NC_000008.9:g.19859503del NCBI36
NG_008855.1:g.23642del
NG_008855.2:g.60996del

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1019-1548del MANE Select ENSP00000497642.1:n.1019-1548del
ENST00000650478.1:c.79+1629del ENSP00000497560.1:n.79+1629del
ENST00000311322.8:c.1019-1548del ENSP00000309757.6:n.1019-1548del
NM_000237.2:c.1019-1548del NP_000228.1:n.1019-1548del
NM_000237.3:c.1019-1548del MANE Select NP_000228.1:n.1019-1548del
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