Canonical Allele Identifier: CA580502362

Gene: LPL

Linked Data

• dbSNP Id: rs1563576393
• gnomAD v2: 8-19813332-GGT-G
• gnomAD v4: 8-19955821-GGT-G
• MyVariant Identifiers: chr8:g.19813333_19813334del (hg19) ; chr8:g.19955822_19955823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19955824_19955825del , CM000670.2:g.19955824_19955825del	GRCh38
NC_000008.10:g.19813335_19813336del , CM000670.1:g.19813335_19813336del	GRCh37
NC_000008.9:g.19857615_19857616del	NCBI36
NG_008855.1:g.21754_21755del
NG_008855.2:g.59108_59109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.776-17_776-16del MANE Select	ENSP00000497642.1:n.776-17_776-16del
ENST00000311322.8:c.776-17_776-16del	ENSP00000309757.6:n.776-17_776-16del
NM_000237.2:c.776-17_776-16del	NP_000228.1:n.776-17_776-16del
NM_000237.3:c.776-17_776-16del MANE Select	NP_000228.1:n.776-17_776-16del