Canonical Allele Identifier: CA10630655
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362450
ClinVar RCV Id: RCV000369035 RCV001519573
dbSNP Id: rs10645926
gnomAD v2: 8-19824626-C-CTT
gnomAD v3: 8-19967115-C-CTT
gnomAD v4: 8-19967115-C-CTT
COSMIC: COSN20105256
MyVariant Identifiers: chr8:g.19824627_19824628insTT (hg19) chr8:g.19824626_19824627insTT (hg19) chr8:g.19967116_19967117insTT (hg38) chr8:g.19967115_19967116insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967116_19967117insTT , CM000670.2:g.19967116_19967117insTT GRCh38
NC_000008.10:g.19824627_19824628insTT , CM000670.1:g.19824627_19824628insTT GRCh37
NC_000008.9:g.19868907_19868908insTT NCBI36
NG_008855.1:g.33046_33047insTT
NG_008855.2:g.70400_70401insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1806_*1807insTT MANE Select ENSP00000497642.1:n.*1806_*1807insTT
ENST00000650478.1:c.2174_2175insTT ENSP00000497560.1:n.2174_2175insTT
ENST00000311322.8:c.*1806_*1807insTT ENSP00000309757.6:n.*1806_*1807insTT
NM_000237.2:c.*1806_*1807insTT NP_000228.1:n.*1806_*1807insTT
NM_000237.3:c.*1806_*1807insTT MANE Select NP_000228.1:n.*1806_*1807insTT
Search 100 bp 5'
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