Canonical Allele Identifier: CA658824688
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 557550
ClinVar RCV Id: RCV000673706
dbSNP Id: rs1555901024

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50627222_50627233del , CM000684.2:g.50627222_50627233del GRCh38
NC_000022.10:g.51065650_51065661del , CM000684.1:g.51065650_51065661del GRCh37
NC_000022.9:g.49412516_49412527del NCBI36
NG_009260.2:g.5947_5958del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.398_409del MANE Select ENSP00000216124.5:p.Glu133_Leu137delinsVal
ENST00000216124.9:c.398_409del ENSP00000216124.5:p.Glu133_Leu137delinsVal
ENST00000356098.9:c.398_409del ENSP00000348406.5:p.Glu133_Leu137delinsVal
ENST00000395619.3:c.398_409del ENSP00000378981.3:p.Glu133_Leu137delinsVal
ENST00000395621.7:c.398_409del ENSP00000378983.3:p.Glu133_Leu137delinsVal
ENST00000453344.6:c.140_151del ENSP00000412542.2:p.Glu47_Leu51delinsVal
ENST00000551731.1:n.789_800del
NM_000487.5:c.398_409del NP_000478.3:p.Glu133_Leu137delinsVal
NM_001085425.2:c.398_409del NP_001078894.2:p.Glu133_Leu137delinsVal
NM_001085426.2:c.398_409del NP_001078895.2:p.Glu133_Leu137delinsVal
NM_001085427.2:c.398_409del NP_001078896.2:p.Glu133_Leu137delinsVal
NM_001085428.2:c.140_151del NP_001078897.1:p.Glu47_Leu51delinsVal
XM_011530690.1:c.140_151del XP_011528992.1:p.Glu47_Leu51delinsVal
XM_011530691.1:c.398_409del XP_011528993.1:p.Glu133_Leu137delinsVal
NM_001362782.1:c.140_151del NP_001349711.1:p.Glu47_Leu51delinsVal
XM_011530691.3:c.398_409del XP_011528993.1:p.Glu133_Leu137delinsVal
XM_017028800.1:c.398_409del XP_016884289.1:p.Glu133_Leu137delinsVal
XM_024452241.1:c.398_409del XP_024308009.1:p.Glu133_Leu137delinsVal
NM_000487.6:c.398_409del MANE Select NP_000478.3:p.Glu133_Leu137delinsVal
NM_001085425.3:c.398_409del NP_001078894.2:p.Glu133_Leu137delinsVal
NM_001085426.3:c.398_409del NP_001078895.2:p.Glu133_Leu137delinsVal
NM_001085427.3:c.398_409del NP_001078896.2:p.Glu133_Leu137delinsVal
NM_001085428.3:c.140_151del NP_001078897.1:p.Glu47_Leu51delinsVal
NM_001362782.2:c.140_151del NP_001349711.1:p.Glu47_Leu51delinsVal