Canonical Allele Identifier: CA4655460
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2916109
ClinVar RCV Id: RCV003740278
dbSNP Id: rs772282295
ExAC: 8:19811610 CCTG / C
gnomAD v2: 8-19811610-CCTG-C
gnomAD v3: 8-19954099-CCTG-C
gnomAD v4: 8-19954099-CCTG-C
MyVariant Identifiers: chr8:g.19811611_19811613del (hg19) chr8:g.19954100_19954102del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954102_19954104del , CM000670.2:g.19954102_19954104del GRCh38
NC_000008.10:g.19811613_19811615del , CM000670.1:g.19811613_19811615del GRCh37
NC_000008.9:g.19855893_19855895del NCBI36
NG_008855.1:g.20032_20034del
NG_008855.2:g.57386_57388del

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.542-18_542-16del MANE Select ENSP00000497642.1:n.542-18_542-16del
ENST00000311322.8:c.542-18_542-16del ENSP00000309757.6:n.542-18_542-16del
ENST00000520959.5:c.314-18_314-16del ENSP00000428496.1:n.314-18_314-16del
NM_000237.2:c.542-18_542-16del NP_000228.1:n.542-18_542-16del
NM_000237.3:c.542-18_542-16del MANE Select NP_000228.1:n.542-18_542-16del
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