Canonical Allele Identifier: CA580158104
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1324747384
gnomAD v2: 8-19815255-AAG-A
gnomAD v3: 8-19957744-AAG-A
gnomAD v4: 8-19957744-AAG-A
MyVariant Identifiers: chr8:g.19815256_19815257del (hg19) chr8:g.19957745_19957746del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957748_19957749del , CM000670.2:g.19957748_19957749del GRCh38
NC_000008.10:g.19815259_19815260del , CM000670.1:g.19815259_19815260del GRCh37
NC_000008.9:g.19859539_19859540del NCBI36
NG_008855.1:g.23678_23679del
NG_008855.2:g.61032_61033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-1512_1019-1511del MANE Select ENSP00000497642.1:n.1019-1512_1019-1511del
ENST00000650478.1:c.79+1665_79+1666del ENSP00000497560.1:n.79+1665_79+1666del
ENST00000311322.8:c.1019-1512_1019-1511del ENSP00000309757.6:n.1019-1512_1019-1511del
NM_000237.2:c.1019-1512_1019-1511del NP_000228.1:n.1019-1512_1019-1511del
NM_000237.3:c.1019-1512_1019-1511del MANE Select NP_000228.1:n.1019-1512_1019-1511del
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