Canonical Allele Identifier: CA5593541

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89215104_89215106del , CM000672.2:g.89215104_89215106del	GRCh38
NC_000010.10:g.90974861_90974863del , CM000672.1:g.90974861_90974863del	GRCh37
NC_000010.9:g.90964841_90964843del	NCBI36
NG_008194.1:g.41810_41812del

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.967-33_967-31del MANE Select	NP_000226.2:n.967-33_967-31del
ENST00000336233.10:c.967-33_967-31del MANE Select	ENSP00000337354.5:n.967-33_967-31del
NM_000235.3:c.967-33_967-31del	NP_000226.2:n.967-33_967-31del
NM_001127605.2:c.967-33_967-31del	NP_001121077.1:n.967-33_967-31del
NM_001127605.3:c.967-33_967-31del	NP_001121077.1:n.967-33_967-31del
NM_001288979.1:c.619-33_619-31del	NP_001275908.1:n.619-33_619-31del
NM_001288979.2:c.619-33_619-31del	NP_001275908.1:n.619-33_619-31del
ENST00000336233.9:c.967-33_967-31del	ENSP00000337354.5:n.967-33_967-31del
ENST00000371837.5:c.799-33_799-31del	ENSP00000360903.1:n.799-33_799-31del
ENST00000456827.5:c.619-33_619-31del	ENSP00000413019.2:n.619-33_619-31del
XM_024448023.1:c.967-33_967-31del	XP_024303791.1:n.967-33_967-31del