Canonical Allele Identifier: CA2686362016
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19962019-CATGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962022_19962025del , CM000670.2:g.19962022_19962025del GRCh38
NC_000008.10:g.19819533_19819536del , CM000670.1:g.19819533_19819536del GRCh37
NC_000008.9:g.19863813_19863816del NCBI36
NG_008855.1:g.27952_27955del
NG_008855.2:g.65306_65309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-93_1323-90del MANE Select ENSP00000497642.1:n.1323-93_1323-90del
ENST00000650478.1:c.263-93_263-90del ENSP00000497560.1:n.263-93_263-90del
ENST00000311322.8:c.1323-93_1323-90del ENSP00000309757.6:n.1323-93_1323-90del
NM_000237.2:c.1323-93_1323-90del NP_000228.1:n.1323-93_1323-90del
NM_000237.3:c.1323-93_1323-90del MANE Select NP_000228.1:n.1323-93_1323-90del
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