Canonical Allele Identifier: CA580158070
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1425958811
gnomAD v2: 8-19814990-TAA-T
gnomAD v3: 8-19957479-TAA-T
gnomAD v4: 8-19957479-TAA-T
MyVariant Identifiers: chr8:g.19814991_19814992del (hg19) chr8:g.19957480_19957481del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957481_19957482del , CM000670.2:g.19957481_19957482del GRCh38
NC_000008.10:g.19814992_19814993del , CM000670.1:g.19814992_19814993del GRCh37
NC_000008.9:g.19859272_19859273del NCBI36
NG_008855.1:g.23411_23412del
NG_008855.2:g.60765_60766del

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1018+1398_1018+1399del MANE Select ENSP00000497642.1:n.1018+1398_1018+1399de...
ENST00000650478.1:c.79+1398_79+1399del ENSP00000497560.1:n.79+1398_79+1399del
ENST00000311322.8:c.1018+1398_1018+1399del ENSP00000309757.6:n.1018+1398_1018+1399de...
NM_000237.2:c.1018+1398_1018+1399del NP_000228.1:n.1018+1398_1018+1399del
NM_000237.3:c.1018+1398_1018+1399del MANE Select NP_000228.1:n.1018+1398_1018+1399del
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