Canonical Allele Identifier: CA2610082269

Gene: LIPA

Linked Data

• gnomAD v4: 10-89247713-C-CTTTTTGTGGGAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247715_89247716insTTTGTGGGAGCATT , CM000672.2:g.89247715_89247716insTTTGTGGGAGCATT	GRCh38
NC_000010.10:g.91007472_91007473insTTTGTGGGAGCATT , CM000672.1:g.91007472_91007473insTTTGTGGGAGCATT	GRCh37
NC_000010.9:g.90997452_90997453insTTTGTGGGAGCATT	NCBI36
NG_008194.1:g.9190_9191insTGCTCCCACAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-65_-1-64insTGCTCCCACAAAAA MANE Select	ENSP00000337354.5:n.-1-65_-1-64insTGCTCCCACAAAAA
ENST00000282673.5:c.-1-65_-1-64insTGCTCCCACAAAAA	ENSP00000282673.4:n.-1-65_-1-64insTGCTCCCACAAAAA
ENST00000336233.9:c.-1-65_-1-64insTGCTCCCACAAAAA	ENSP00000337354.5:n.-1-65_-1-64insTGCTCCCACAAAAA
ENST00000371837.5:c.62-19316_62-19315insTGCTCCCACAAAAA	ENSP00000360903.1:n.62-19316_62-19315insTGCTCCCACAAAAA
ENST00000428800.5:c.-66_-65insTGCTCCCACAAAAA	ENSP00000388415.1:n.-66_-65insTGCTCCCACAAAAA
ENST00000456827.5:c.-120+4023_-120+4024insTGCTCCCACAAAAA	ENSP00000413019.2:n.-120+4023_-120+4024insTGCTCCCACAAAAA
NM_000235.3:c.-1-65_-1-64insTGCTCCCACAAAAA	NP_000226.2:n.-1-65_-1-64insTGCTCCCACAAAAA
NM_001127605.2:c.-1-65_-1-64insTGCTCCCACAAAAA	NP_001121077.1:n.-1-65_-1-64insTGCTCCCACAAAAA
NM_001288979.1:c.-120+4023_-120+4024insTGCTCCCACAAAAA	NP_001275908.1:n.-120+4023_-120+4024insTGCTCCCACAAAAA
XM_024448023.1:c.-1-65_-1-64insTGCTCCCACAAAAA	XP_024303791.1:n.-1-65_-1-64insTGCTCCCACAAAAA
NM_000235.4:c.-1-65_-1-64insTGCTCCCACAAAAA MANE Select	NP_000226.2:n.-1-65_-1-64insTGCTCCCACAAAAA
NM_001127605.3:c.-1-65_-1-64insTGCTCCCACAAAAA	NP_001121077.1:n.-1-65_-1-64insTGCTCCCACAAAAA
NM_001288979.2:c.-120+4023_-120+4024insTGCTCCCACAAAAA	NP_001275908.1:n.-120+4023_-120+4024insTGCTCCCACAAAAA