Canonical Allele Identifier: CA930995709

Gene: LIPA

Linked Data

• gnomAD v3: 10-89247355-AGGTG-A
• gnomAD v4: 10-89247355-AGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247356_89247359del , CM000672.2:g.89247356_89247359del	GRCh38
NC_000010.10:g.91007113_91007116del , CM000672.1:g.91007113_91007116del	GRCh37
NC_000010.9:g.90997093_90997096del	NCBI36
NG_008194.1:g.9545_9548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+179_111+182del MANE Select	ENSP00000337354.5:n.111+179_111+182del
ENST00000282673.5:c.111+179_111+182del	ENSP00000282673.4:n.111+179_111+182del
ENST00000336233.9:c.111+179_111+182del	ENSP00000337354.5:n.111+179_111+182del
ENST00000371837.5:c.62-18961_62-18958del	ENSP00000360903.1:n.62-18961_62-18958del
ENST00000428800.5:c.111+179_111+182del	ENSP00000388415.1:n.111+179_111+182del
ENST00000456827.5:c.-120+4378_-120+4381del	ENSP00000413019.2:n.-120+4378_-120+4381del
NM_000235.3:c.111+179_111+182del	NP_000226.2:n.111+179_111+182del
NM_001127605.2:c.111+179_111+182del	NP_001121077.1:n.111+179_111+182del
NM_001288979.1:c.-120+4378_-120+4381del	NP_001275908.1:n.-120+4378_-120+4381del
XM_024448023.1:c.111+179_111+182del	XP_024303791.1:n.111+179_111+182del
NM_000235.4:c.111+179_111+182del MANE Select	NP_000226.2:n.111+179_111+182del
NM_001127605.3:c.111+179_111+182del	NP_001121077.1:n.111+179_111+182del
NM_001288979.2:c.-120+4378_-120+4381del	NP_001275908.1:n.-120+4378_-120+4381del