Canonical Allele Identifier: CA2573142625
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1455947
ClinVar RCV Id: RCV001970159
dbSNP Id: rs2128835130
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939450_19939459del , CM000670.2:g.19939450_19939459del GRCh38
NC_000008.10:g.19796961_19796970del , CM000670.1:g.19796961_19796970del GRCh37
NC_000008.9:g.19841241_19841250del NCBI36
NG_008855.1:g.5380_5389del
NG_008855.2:g.42734_42743del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.10_19del MANE Select ENSP00000497642.1:p.Lys4SerfsTer3
ENST00000311322.8:c.10_19del ENSP00000309757.6:p.Lys4SerfsTer3
ENST00000519773.1:c.10_19del ENSP00000431028.1:p.Lys4SerfsTer3
ENST00000520959.5:c.-140-8730_-140-8721del ENSP00000428496.1:n.-140-8730_-140-8721del
ENST00000521994.1:n.195_204del
ENST00000522701.5:c.10_19del ENSP00000428557.1:p.Lys4SerfsTer3
ENST00000523696.1:n.79_88del
ENST00000524029.5:c.10_19del ENSP00000428237.1:p.Lys4SerfsTer3
NM_000237.2:c.10_19del NP_000228.1:p.Lys4SerfsTer3
NM_000237.3:c.10_19del MANE Select NP_000228.1:p.Lys4SerfsTer3
Search 100 bp 5'
Search 100 bp 3'