Canonical Allele Identifier: CA2610081860

Gene: LIPA

Linked Data

• gnomAD v4: 10-89247398-AAAAAAAAAAAAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247399_89247412del , CM000672.2:g.89247399_89247412del	GRCh38
NC_000010.10:g.91007156_91007169del , CM000672.1:g.91007156_91007169del	GRCh37
NC_000010.9:g.90997136_90997149del	NCBI36
NG_008194.1:g.9492_9505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+126_111+139del MANE Select	ENSP00000337354.5:n.111+126_111+139del
ENST00000282673.5:c.111+126_111+139del	ENSP00000282673.4:n.111+126_111+139del
ENST00000336233.9:c.111+126_111+139del	ENSP00000337354.5:n.111+126_111+139del
ENST00000371837.5:c.62-19014_62-19001del	ENSP00000360903.1:n.62-19014_62-19001del
ENST00000428800.5:c.111+126_111+139del	ENSP00000388415.1:n.111+126_111+139del
ENST00000456827.5:c.-120+4325_-120+4338del	ENSP00000413019.2:n.-120+4325_-120+4338del
NM_000235.3:c.111+126_111+139del	NP_000226.2:n.111+126_111+139del
NM_001127605.2:c.111+126_111+139del	NP_001121077.1:n.111+126_111+139del
NM_001288979.1:c.-120+4325_-120+4338del	NP_001275908.1:n.-120+4325_-120+4338del
XM_024448023.1:c.111+126_111+139del	XP_024303791.1:n.111+126_111+139del
NM_000235.4:c.111+126_111+139del MANE Select	NP_000226.2:n.111+126_111+139del
NM_001127605.3:c.111+126_111+139del	NP_001121077.1:n.111+126_111+139del
NM_001288979.2:c.-120+4325_-120+4338del	NP_001275908.1:n.-120+4325_-120+4338del