Canonical Allele Identifier: CA211367913

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89225312_89225324del , CM000672.2:g.89225312_89225324del	GRCh38
NC_000010.10:g.90985069_90985081del , CM000672.1:g.90985069_90985081del	GRCh37
NC_000010.9:g.90975049_90975061del	NCBI36
NG_008194.1:g.31581_31593del

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.539-95_539-83del MANE Select	NP_000226.2:n.539-95_539-83del
ENST00000336233.10:c.539-95_539-83del MANE Select	ENSP00000337354.5:n.539-95_539-83del
NM_000235.3:c.539-95_539-83del	NP_000226.2:n.539-95_539-83del
NM_001127605.2:c.539-95_539-83del	NP_001121077.1:n.539-95_539-83del
NM_001127605.3:c.539-95_539-83del	NP_001121077.1:n.539-95_539-83del
NM_001288979.1:c.191-95_191-83del	NP_001275908.1:n.191-95_191-83del
NM_001288979.2:c.191-95_191-83del	NP_001275908.1:n.191-95_191-83del
ENST00000282673.5:c.539-95_539-83del	ENSP00000282673.4:n.539-95_539-83del
ENST00000336233.9:c.539-95_539-83del	ENSP00000337354.5:n.539-95_539-83del
ENST00000371837.5:c.371-95_371-83del	ENSP00000360903.1:n.371-95_371-83del
ENST00000428800.5:c.539-95_539-83del	ENSP00000388415.1:n.539-95_539-83del
ENST00000456827.5:c.191-95_191-83del	ENSP00000413019.2:n.191-95_191-83del
XM_024448023.1:c.539-95_539-83del	XP_024303791.1:n.539-95_539-83del