Canonical Allele Identifier: CA1926733214

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222722_89222723delinsTA , CM000672.2:g.89222722_89222723delinsTA	GRCh38
NC_000010.10:g.90982479_90982480delinsTA , CM000672.1:g.90982479_90982480delinsTA	GRCh37
NC_000010.9:g.90972459_90972460delinsTA	NCBI36
NG_008194.1:g.34181_34182delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.823-141_823-140delinsTA MANE Select	ENSP00000337354.5:n.823-141_823-140delinsTA
ENST00000336233.9:c.823-141_823-140delinsTA	ENSP00000337354.5:n.823-141_823-140delinsTA
ENST00000371837.5:c.655-141_655-140delinsTA	ENSP00000360903.1:n.655-141_655-140delinsTA
ENST00000428800.5:c.823-141_823-140delinsTA	ENSP00000388415.1:n.823-141_823-140delinsTA
ENST00000456827.5:c.475-141_475-140delinsTA	ENSP00000413019.2:n.475-141_475-140delinsTA
NM_000235.3:c.823-141_823-140delinsTA	NP_000226.2:n.823-141_823-140delinsTA
NM_001127605.2:c.823-141_823-140delinsTA	NP_001121077.1:n.823-141_823-140delinsTA
NM_001288979.1:c.475-141_475-140delinsTA	NP_001275908.1:n.475-141_475-140delinsTA
XM_024448023.1:c.823-141_823-140delinsTA	XP_024303791.1:n.823-141_823-140delinsTA
NM_000235.4:c.823-141_823-140delinsTA MANE Select	NP_000226.2:n.823-141_823-140delinsTA
NM_001127605.3:c.823-141_823-140delinsTA	NP_001121077.1:n.823-141_823-140delinsTA
NM_001288979.2:c.475-141_475-140delinsTA	NP_001275908.1:n.475-141_475-140delinsTA