Canonical Allele Identifier: CA2574605639

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222581_89222582del , CM000672.2:g.89222581_89222582del	GRCh38
NC_000010.10:g.90982338_90982339del , CM000672.1:g.90982338_90982339del	GRCh37
NC_000010.9:g.90972318_90972319del	NCBI36
NG_008194.1:g.34323_34324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.824_825del MANE Select	ENSP00000337354.5:p.Ser275Ter
ENST00000336233.9:c.824_825del	ENSP00000337354.5:p.Ser275Ter
ENST00000371837.5:c.656_657del	ENSP00000360903.1:p.Ser219Ter
ENST00000428800.5:c.824_825del	ENSP00000388415.1:p.Ser275Ter
ENST00000456827.5:c.476_477del	ENSP00000413019.2:p.Ser159Ter
NM_000235.3:c.824_825del	NP_000226.2:p.Ser275Ter
NM_001127605.2:c.824_825del	NP_001121077.1:p.Ser275Ter
NM_001288979.1:c.476_477del	NP_001275908.1:p.Ser159Ter
XM_024448023.1:c.824_825del	XP_024303791.1:p.Ser275Ter
NM_000235.4:c.824_825del MANE Select	NP_000226.2:p.Ser275Ter
NM_001127605.3:c.824_825del	NP_001121077.1:p.Ser275Ter
NM_001288979.2:c.476_477del	NP_001275908.1:p.Ser159Ter