Canonical Allele Identifier: CA1139660384
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 973588
ClinVar RCV Id: RCV001250245
dbSNP Id: rs2070032216
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960921_19960922insT , CM000670.2:g.19960921_19960922insT GRCh38
NC_000008.10:g.19818432_19818433insT , CM000670.1:g.19818432_19818433insT GRCh37
NC_000008.9:g.19862712_19862713insT NCBI36
NG_008855.1:g.26851_26852insT
NG_008855.2:g.64205_64206insT

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1160_1161insT MANE Select ENSP00000497642.1:p.Lys387AsnfsTer26
ENST00000650478.1:c.100_101insT ENSP00000497560.1:p.Arg34MetfsTer?
ENST00000311322.8:c.1160_1161insT ENSP00000309757.6:p.Lys387AsnfsTer26
NM_000237.2:c.1160_1161insT NP_000228.1:p.Lys387AsnfsTer26
NM_000237.3:c.1160_1161insT MANE Select NP_000228.1:p.Lys387AsnfsTer26
Search 100 bp 5'
Search 100 bp 3'