Canonical Allele Identifier: CA2788925811

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222711_89222714del , CM000672.2:g.89222711_89222714del	GRCh38
NC_000010.10:g.90982468_90982471del , CM000672.1:g.90982468_90982471del	GRCh37
NC_000010.9:g.90972448_90972451del	NCBI36
NG_008194.1:g.34190_34193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.823-132_823-129del MANE Select	ENSP00000337354.5:n.823-132_823-129del
ENST00000336233.9:c.823-132_823-129del	ENSP00000337354.5:n.823-132_823-129del
ENST00000371837.5:c.655-132_655-129del	ENSP00000360903.1:n.655-132_655-129del
ENST00000428800.5:c.823-132_823-129del	ENSP00000388415.1:n.823-132_823-129del
ENST00000456827.5:c.475-132_475-129del	ENSP00000413019.2:n.475-132_475-129del
NM_000235.3:c.823-132_823-129del	NP_000226.2:n.823-132_823-129del
NM_001127605.2:c.823-132_823-129del	NP_001121077.1:n.823-132_823-129del
NM_001288979.1:c.475-132_475-129del	NP_001275908.1:n.475-132_475-129del
XM_024448023.1:c.823-132_823-129del	XP_024303791.1:n.823-132_823-129del
NM_000235.4:c.823-132_823-129del MANE Select	NP_000226.2:n.823-132_823-129del
NM_001127605.3:c.823-132_823-129del	NP_001121077.1:n.823-132_823-129del
NM_001288979.2:c.475-132_475-129del	NP_001275908.1:n.475-132_475-129del