Canonical Allele Identifier: CA2788925810

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222682_89222683insAAACACACCCAACA , CM000672.2:g.89222682_89222683insAAACACACCCAACA	GRCh38
NC_000010.10:g.90982439_90982440insAAACACACCCAACA , CM000672.1:g.90982439_90982440insAAACACACCCAACA	GRCh37
NC_000010.9:g.90972419_90972420insAAACACACCCAACA	NCBI36
NG_008194.1:g.34221_34222insTGTTGGGTGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.823-101_823-100insTGTTGGGTGTGTTT MANE Select	ENSP00000337354.5:n.823-101_823-100insTGTTGGGTGTGTTT
ENST00000336233.9:c.823-101_823-100insTGTTGGGTGTGTTT	ENSP00000337354.5:n.823-101_823-100insTGTTGGGTGTGTTT
ENST00000371837.5:c.655-101_655-100insTGTTGGGTGTGTTT	ENSP00000360903.1:n.655-101_655-100insTGTTGGGTGTGTTT
ENST00000428800.5:c.823-101_823-100insTGTTGGGTGTGTTT	ENSP00000388415.1:n.823-101_823-100insTGTTGGGTGTGTTT
ENST00000456827.5:c.475-101_475-100insTGTTGGGTGTGTTT	ENSP00000413019.2:n.475-101_475-100insTGTTGGGTGTGTTT
NM_000235.3:c.823-101_823-100insTGTTGGGTGTGTTT	NP_000226.2:n.823-101_823-100insTGTTGGGTGTGTTT
NM_001127605.2:c.823-101_823-100insTGTTGGGTGTGTTT	NP_001121077.1:n.823-101_823-100insTGTTGGGTGTGTTT
NM_001288979.1:c.475-101_475-100insTGTTGGGTGTGTTT	NP_001275908.1:n.475-101_475-100insTGTTGGGTGTGTTT
XM_024448023.1:c.823-101_823-100insTGTTGGGTGTGTTT	XP_024303791.1:n.823-101_823-100insTGTTGGGTGTGTTT
NM_000235.4:c.823-101_823-100insTGTTGGGTGTGTTT MANE Select	NP_000226.2:n.823-101_823-100insTGTTGGGTGTGTTT
NM_001127605.3:c.823-101_823-100insTGTTGGGTGTGTTT	NP_001121077.1:n.823-101_823-100insTGTTGGGTGTGTTT
NM_001288979.2:c.475-101_475-100insTGTTGGGTGTGTTT	NP_001275908.1:n.475-101_475-100insTGTTGGGTGTGTTT