Canonical Allele Identifier: CA2610081930

Gene: LIPA

Linked Data

• gnomAD v4: 10-89247413-TCAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247414_89247418del , CM000672.2:g.89247414_89247418del	GRCh38
NC_000010.10:g.91007171_91007175del , CM000672.1:g.91007171_91007175del	GRCh37
NC_000010.9:g.90997151_90997155del	NCBI36
NG_008194.1:g.9486_9490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+120_111+124del MANE Select	ENSP00000337354.5:n.111+120_111+124del
ENST00000282673.5:c.111+120_111+124del	ENSP00000282673.4:n.111+120_111+124del
ENST00000336233.9:c.111+120_111+124del	ENSP00000337354.5:n.111+120_111+124del
ENST00000371837.5:c.62-19020_62-19016del	ENSP00000360903.1:n.62-19020_62-19016del
ENST00000428800.5:c.111+120_111+124del	ENSP00000388415.1:n.111+120_111+124del
ENST00000456827.5:c.-120+4319_-120+4323del	ENSP00000413019.2:n.-120+4319_-120+4323del
NM_000235.3:c.111+120_111+124del	NP_000226.2:n.111+120_111+124del
NM_001127605.2:c.111+120_111+124del	NP_001121077.1:n.111+120_111+124del
NM_001288979.1:c.-120+4319_-120+4323del	NP_001275908.1:n.-120+4319_-120+4323del
XM_024448023.1:c.111+120_111+124del	XP_024303791.1:n.111+120_111+124del
NM_000235.4:c.111+120_111+124del MANE Select	NP_000226.2:n.111+120_111+124del
NM_001127605.3:c.111+120_111+124del	NP_001121077.1:n.111+120_111+124del
NM_001288979.2:c.-120+4319_-120+4323del	NP_001275908.1:n.-120+4319_-120+4323del