Canonical Allele Identifier: CA594954987

Gene: LIPA

Linked Data

• gnomAD v2: 10-91007138-A-AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT
• MyVariant Identifiers: chr10:g.91007138_91007139insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT (hg19) ; chr10:g.89247381_89247382insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247382_89247412dup , CM000672.2:g.89247382_89247412dup	GRCh38
NC_000010.10:g.91007139_91007169dup , CM000672.1:g.91007139_91007169dup	GRCh37
NC_000010.9:g.90997119_90997149dup	NCBI36
NG_008194.1:g.9492_9522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+126_111+156dup MANE Select	ENSP00000337354.5:n.111+126_111+156dup
ENST00000282673.5:c.111+126_111+156dup	ENSP00000282673.4:n.111+126_111+156dup
ENST00000336233.9:c.111+126_111+156dup	ENSP00000337354.5:n.111+126_111+156dup
ENST00000371837.5:c.62-19014_62-18984dup	ENSP00000360903.1:n.62-19014_62-18984dup
ENST00000428800.5:c.111+126_111+156dup	ENSP00000388415.1:n.111+126_111+156dup
ENST00000456827.5:c.-120+4325_-120+4355dup	ENSP00000413019.2:n.-120+4325_-120+4355dup
NM_000235.3:c.111+126_111+156dup	NP_000226.2:n.111+126_111+156dup
NM_001127605.2:c.111+126_111+156dup	NP_001121077.1:n.111+126_111+156dup
NM_001288979.1:c.-120+4325_-120+4355dup	NP_001275908.1:n.-120+4325_-120+4355dup
XM_024448023.1:c.111+126_111+156dup	XP_024303791.1:n.111+126_111+156dup
NM_000235.4:c.111+126_111+156dup MANE Select	NP_000226.2:n.111+126_111+156dup
NM_001127605.3:c.111+126_111+156dup	NP_001121077.1:n.111+126_111+156dup
NM_001288979.2:c.-120+4325_-120+4355dup	NP_001275908.1:n.-120+4325_-120+4355dup