Canonical Allele Identifier: CA2739279633
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2795633
ClinVar RCV Id: RCV003667697
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960919dup , CM000670.2:g.19960919dup GRCh38
NC_000008.10:g.19818430dup , CM000670.1:g.19818430dup GRCh37
NC_000008.9:g.19862710dup NCBI36
NG_008855.1:g.26849dup
NG_008855.2:g.64203dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1158dup MANE Select ENSP00000497642.1:p.Lys387Ter
ENST00000650478.1:c.98dup ENSP00000497560.1:p.Arg34LysfsTer?
ENST00000311322.8:c.1158dup ENSP00000309757.6:p.Lys387Ter
NM_000237.2:c.1158dup NP_000228.1:p.Lys387Ter
NM_000237.3:c.1158dup MANE Select NP_000228.1:p.Lys387Ter
Search 100 bp 5'
Search 100 bp 3'