Canonical Allele Identifier: CA211368933

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89227103_89227104del , CM000672.2:g.89227103_89227104del	GRCh38
NC_000010.10:g.90986860_90986861del , CM000672.1:g.90986860_90986861del	GRCh37
NC_000010.9:g.90976840_90976841del	NCBI36
NG_008194.1:g.29803_29804del

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.429-97_429-96del MANE Select	NP_000226.2:n.429-97_429-96del
ENST00000336233.10:c.429-97_429-96del MANE Select	ENSP00000337354.5:n.429-97_429-96del
NM_000235.3:c.429-97_429-96del	NP_000226.2:n.429-97_429-96del
NM_001127605.2:c.429-97_429-96del	NP_001121077.1:n.429-97_429-96del
NM_001127605.3:c.429-97_429-96del	NP_001121077.1:n.429-97_429-96del
NM_001288979.1:c.81-97_81-96del	NP_001275908.1:n.81-97_81-96del
NM_001288979.2:c.81-97_81-96del	NP_001275908.1:n.81-97_81-96del
ENST00000282673.5:c.429-97_429-96del	ENSP00000282673.4:n.429-97_429-96del
ENST00000336233.9:c.429-97_429-96del	ENSP00000337354.5:n.429-97_429-96del
ENST00000371837.5:c.261-97_261-96del	ENSP00000360903.1:n.261-97_261-96del
ENST00000428800.5:c.429-97_429-96del	ENSP00000388415.1:n.429-97_429-96del
ENST00000456827.5:c.81-97_81-96del	ENSP00000413019.2:n.81-97_81-96del
XM_024448023.1:c.429-97_429-96del	XP_024303791.1:n.429-97_429-96del