Canonical Allele Identifier: CA2788925807

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222674_89222675insCCAAACACACCCAACAC , CM000672.2:g.89222674_89222675insCCAAACACACCCAACAC	GRCh38
NC_000010.10:g.90982431_90982432insCCAAACACACCCAACAC , CM000672.1:g.90982431_90982432insCCAAACACACCCAACAC	GRCh37
NC_000010.9:g.90972411_90972412insCCAAACACACCCAACAC	NCBI36
NG_008194.1:g.34229_34230insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.823-93_823-92insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000337354.5:n.823-93_823-92insGTGTTGGGTGTGTTTGG
ENST00000336233.9:c.823-93_823-92insGTGTTGGGTGTGTTTGG	ENSP00000337354.5:n.823-93_823-92insGTGTTGGGTGTGTTTGG
ENST00000371837.5:c.655-93_655-92insGTGTTGGGTGTGTTTGG	ENSP00000360903.1:n.655-93_655-92insGTGTTGGGTGTGTTTGG
ENST00000428800.5:c.823-93_823-92insGTGTTGGGTGTGTTTGG	ENSP00000388415.1:n.823-93_823-92insGTGTTGGGTGTGTTTGG
ENST00000456827.5:c.475-93_475-92insGTGTTGGGTGTGTTTGG	ENSP00000413019.2:n.475-93_475-92insGTGTTGGGTGTGTTTGG
NM_000235.3:c.823-93_823-92insGTGTTGGGTGTGTTTGG	NP_000226.2:n.823-93_823-92insGTGTTGGGTGTGTTTGG
NM_001127605.2:c.823-93_823-92insGTGTTGGGTGTGTTTGG	NP_001121077.1:n.823-93_823-92insGTGTTGGGTGTGTTTGG
NM_001288979.1:c.475-93_475-92insGTGTTGGGTGTGTTTGG	NP_001275908.1:n.475-93_475-92insGTGTTGGGTGTGTTTGG
XM_024448023.1:c.823-93_823-92insGTGTTGGGTGTGTTTGG	XP_024303791.1:n.823-93_823-92insGTGTTGGGTGTGTTTGG
NM_000235.4:c.823-93_823-92insGTGTTGGGTGTGTTTGG MANE Select	NP_000226.2:n.823-93_823-92insGTGTTGGGTGTGTTTGG
NM_001127605.3:c.823-93_823-92insGTGTTGGGTGTGTTTGG	NP_001121077.1:n.823-93_823-92insGTGTTGGGTGTGTTTGG
NM_001288979.2:c.475-93_475-92insGTGTTGGGTGTGTTTGG	NP_001275908.1:n.475-93_475-92insGTGTTGGGTGTGTTTGG