Canonical Allele Identifier: CA5593748

Gene: LIPA

Linked Data

• ClinVar Variation Id: 289986
• ClinVar RCV Id: RCV000368412 ; RCV000801965 ; RCV001376636
• dbSNP Id: rs756016704
• ExAC: 10:90987986 TG / T
• gnomAD v2: 10-90987986-TG-T
• gnomAD v3: 10-89228229-TG-T
• gnomAD v4: 10-89228229-TG-T
• MyVariant Identifiers: chr10:g.90987987del (hg19) ; chr10:g.89228230del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228230del , CM000672.2:g.89228230del	GRCh38
NC_000010.10:g.90987987del , CM000672.1:g.90987987del	GRCh37
NC_000010.9:g.90977967del	NCBI36
NG_008194.1:g.28674del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.398del MANE Select	ENSP00000337354.5:p.Ser133Ter
ENST00000282673.5:c.398del	ENSP00000282673.4:p.Ser133Ter
ENST00000336233.9:c.398del	ENSP00000337354.5:p.Ser133Ter
ENST00000371837.5:c.230del	ENSP00000360903.1:p.Ser77Ter
ENST00000428800.5:c.398del	ENSP00000388415.1:p.Ser133Ter
ENST00000456827.5:c.50del	ENSP00000413019.2:p.Ser17Ter
NM_000235.3:c.398del	NP_000226.2:p.Ser133Ter
NM_001127605.2:c.398del	NP_001121077.1:p.Ser133Ter
NM_001288979.1:c.50del	NP_001275908.1:p.Ser17Ter
XM_024448023.1:c.398del	XP_024303791.1:p.Ser133Ter
NM_000235.4:c.398del MANE Select	NP_000226.2:p.Ser133Ter
NM_001127605.3:c.398del	NP_001121077.1:p.Ser133Ter
NM_001288979.2:c.50del	NP_001275908.1:p.Ser17Ter