Canonical Allele Identifier: CA2740094969
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 3004006
ClinVar RCV Id: RCV003863581

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955834dup , CM000670.2:g.19955834dup GRCh38
NC_000008.10:g.19813345dup , CM000670.1:g.19813345dup GRCh37
NC_000008.9:g.19857625dup NCBI36
NG_008855.1:g.21764dup
NG_008855.2:g.59118dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-7dup MANE Select ENSP00000497642.1:n.776-7dup
ENST00000311322.8:c.776-7dup ENSP00000309757.6:n.776-7dup
NM_000237.2:c.776-7dup NP_000228.1:n.776-7dup
NM_000237.3:c.776-7dup MANE Select NP_000228.1:n.776-7dup