Canonical Allele Identifier: CA2573331826

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247589_89247592del , CM000672.2:g.89247589_89247592del	GRCh38
NC_000010.10:g.91007346_91007349del , CM000672.1:g.91007346_91007349del	GRCh37
NC_000010.9:g.90997326_90997329del	NCBI36
NG_008194.1:g.9312_9315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.57_60del MANE Select	ENSP00000337354.5:p.Glu20GlyfsTer6
ENST00000282673.5:c.57_60del	ENSP00000282673.4:p.Glu20GlyfsTer6
ENST00000336233.9:c.57_60del	ENSP00000337354.5:p.Glu20GlyfsTer6
ENST00000371837.5:c.62-19194_62-19191del	ENSP00000360903.1:n.62-19194_62-19191del
ENST00000428800.5:c.57_60del	ENSP00000388415.1:p.Glu20GlyfsTer6
ENST00000456827.5:c.-120+4145_-120+4148del	ENSP00000413019.2:n.-120+4145_-120+4148del
NM_000235.3:c.57_60del	NP_000226.2:p.Glu20GlyfsTer6
NM_001127605.2:c.57_60del	NP_001121077.1:p.Glu20GlyfsTer6
NM_001288979.1:c.-120+4145_-120+4148del	NP_001275908.1:n.-120+4145_-120+4148del
XM_024448023.1:c.57_60del	XP_024303791.1:p.Glu20GlyfsTer6
NM_000235.4:c.57_60del MANE Select	NP_000226.2:p.Glu20GlyfsTer6
NM_001127605.3:c.57_60del	NP_001121077.1:p.Glu20GlyfsTer6
NM_001288979.2:c.-120+4145_-120+4148del	NP_001275908.1:n.-120+4145_-120+4148del