Canonical Allele Identifier: CA930995774

Gene: LIPA

Linked Data

• gnomAD v3: 10-89247376-C-CAT
• gnomAD v4: 10-89247376-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247376_89247377insAT , CM000672.2:g.89247376_89247377insAT	GRCh38
NC_000010.10:g.91007133_91007134insAT , CM000672.1:g.91007133_91007134insAT	GRCh37
NC_000010.9:g.90997113_90997114insAT	NCBI36
NG_008194.1:g.9527_9528insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+161_111+162insAT MANE Select	ENSP00000337354.5:n.111+161_111+162insAT
ENST00000282673.5:c.111+161_111+162insAT	ENSP00000282673.4:n.111+161_111+162insAT
ENST00000336233.9:c.111+161_111+162insAT	ENSP00000337354.5:n.111+161_111+162insAT
ENST00000371837.5:c.62-18979_62-18978insAT	ENSP00000360903.1:n.62-18979_62-18978insAT
ENST00000428800.5:c.111+161_111+162insAT	ENSP00000388415.1:n.111+161_111+162insAT
ENST00000456827.5:c.-120+4360_-120+4361insAT	ENSP00000413019.2:n.-120+4360_-120+4361insAT
NM_000235.3:c.111+161_111+162insAT	NP_000226.2:n.111+161_111+162insAT
NM_001127605.2:c.111+161_111+162insAT	NP_001121077.1:n.111+161_111+162insAT
NM_001288979.1:c.-120+4360_-120+4361insAT	NP_001275908.1:n.-120+4360_-120+4361insAT
XM_024448023.1:c.111+161_111+162insAT	XP_024303791.1:n.111+161_111+162insAT
NM_000235.4:c.111+161_111+162insAT MANE Select	NP_000226.2:n.111+161_111+162insAT
NM_001127605.3:c.111+161_111+162insAT	NP_001121077.1:n.111+161_111+162insAT
NM_001288979.2:c.-120+4360_-120+4361insAT	NP_001275908.1:n.-120+4360_-120+4361insAT