Canonical Allele Identifier: CA2610081869

Gene: LIPA

Linked Data

• gnomAD v4: 10-89247402-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247402_89247403insTT , CM000672.2:g.89247402_89247403insTT	GRCh38
NC_000010.10:g.91007159_91007160insTT , CM000672.1:g.91007159_91007160insTT	GRCh37
NC_000010.9:g.90997139_90997140insTT	NCBI36
NG_008194.1:g.9501_9502insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+135_111+136insAA MANE Select	ENSP00000337354.5:n.111+135_111+136insAA
ENST00000282673.5:c.111+135_111+136insAA	ENSP00000282673.4:n.111+135_111+136insAA
ENST00000336233.9:c.111+135_111+136insAA	ENSP00000337354.5:n.111+135_111+136insAA
ENST00000371837.5:c.62-19005_62-19004insAA	ENSP00000360903.1:n.62-19005_62-19004insAA
ENST00000428800.5:c.111+135_111+136insAA	ENSP00000388415.1:n.111+135_111+136insAA
ENST00000456827.5:c.-120+4334_-120+4335insAA	ENSP00000413019.2:n.-120+4334_-120+4335insAA
NM_000235.3:c.111+135_111+136insAA	NP_000226.2:n.111+135_111+136insAA
NM_001127605.2:c.111+135_111+136insAA	NP_001121077.1:n.111+135_111+136insAA
NM_001288979.1:c.-120+4334_-120+4335insAA	NP_001275908.1:n.-120+4334_-120+4335insAA
XM_024448023.1:c.111+135_111+136insAA	XP_024303791.1:n.111+135_111+136insAA
NM_000235.4:c.111+135_111+136insAA MANE Select	NP_000226.2:n.111+135_111+136insAA
NM_001127605.3:c.111+135_111+136insAA	NP_001121077.1:n.111+135_111+136insAA
NM_001288979.2:c.-120+4334_-120+4335insAA	NP_001275908.1:n.-120+4334_-120+4335insAA