Canonical Allele Identifier: CA594954998

Gene: LIPA

Linked Data

• gnomAD v2: 10-91007168-ATTCAGAGAAATTG-A
• gnomAD v3: 10-89247411-ATTCAGAGAAATTG-A
• gnomAD v4: 10-89247411-ATTCAGAGAAATTG-A
• MyVariant Identifiers: chr10:g.91007169_91007181del (hg19) ; chr10:g.89247412_89247424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247412_89247424del , CM000672.2:g.89247412_89247424del	GRCh38
NC_000010.10:g.91007169_91007181del , CM000672.1:g.91007169_91007181del	GRCh37
NC_000010.9:g.90997149_90997161del	NCBI36
NG_008194.1:g.9480_9492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+114_111+126del MANE Select	ENSP00000337354.5:n.111+114_111+126del
ENST00000282673.5:c.111+114_111+126del	ENSP00000282673.4:n.111+114_111+126del
ENST00000336233.9:c.111+114_111+126del	ENSP00000337354.5:n.111+114_111+126del
ENST00000371837.5:c.62-19026_62-19014del	ENSP00000360903.1:n.62-19026_62-19014del
ENST00000428800.5:c.111+114_111+126del	ENSP00000388415.1:n.111+114_111+126del
ENST00000456827.5:c.-120+4313_-120+4325del	ENSP00000413019.2:n.-120+4313_-120+4325del
NM_000235.3:c.111+114_111+126del	NP_000226.2:n.111+114_111+126del
NM_001127605.2:c.111+114_111+126del	NP_001121077.1:n.111+114_111+126del
NM_001288979.1:c.-120+4313_-120+4325del	NP_001275908.1:n.-120+4313_-120+4325del
XM_024448023.1:c.111+114_111+126del	XP_024303791.1:n.111+114_111+126del
NM_000235.4:c.111+114_111+126del MANE Select	NP_000226.2:n.111+114_111+126del
NM_001127605.3:c.111+114_111+126del	NP_001121077.1:n.111+114_111+126del
NM_001288979.2:c.-120+4313_-120+4325del	NP_001275908.1:n.-120+4313_-120+4325del