Canonical Allele Identifier: CA278421
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 93116
ClinVar RCV Id: RCV000078934
dbSNP Id: rs398123412

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625663_50625664del , CM000684.2:g.50625663_50625664del GRCh38
NC_000022.10:g.51064091_51064092del , CM000684.1:g.51064091_51064092del GRCh37
NC_000022.9:g.49410957_49410958del NCBI36
NG_009260.2:g.7511_7512del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.9:c.1120_1121del ENSP00000216124.5:p.Phe376LeufsTer?
ENST00000356098.9:c.1120_1121del ENSP00000348406.5:p.Phe376LeufsTer?
ENST00000395619.3:c.1120_1121del ENSP00000378981.3:p.Phe376LeufsTer?
ENST00000395621.7:c.1120_1121del ENSP00000378983.3:p.Phe376LeufsTer?
ENST00000453344.6:c.862_863del ENSP00000412542.2:p.Phe290LeufsTer?
NM_000487.5:c.1120_1121del NP_000478.3:p.Phe376LeufsTer?
NM_001085425.2:c.1120_1121del NP_001078894.2:p.Phe376LeufsTer?
NM_001085426.2:c.1120_1121del NP_001078895.2:p.Phe376LeufsTer?
NM_001085427.2:c.1120_1121del NP_001078896.2:p.Phe376LeufsTer?
NM_001085428.2:c.862_863del NP_001078897.1:p.Phe290LeufsTer?
XM_011530690.1:c.862_863del XP_011528992.1:p.Phe290LeufsTer?
XM_011530691.1:c.1108-205_1108-204del XP_011528993.1:p.=
NM_001362782.1:c.862_863del NP_001349711.1:p.Phe290LeufsTer?
XM_011530691.3:c.1108-205_1108-204del XP_011528993.1:p.=
XM_017028800.1:c.1120_1121del XP_016884289.1:p.Phe376LeufsTer29
XM_024452241.1:c.1108-205_1108-204del XP_024308009.1:p.=
NM_000487.6:c.1120_1121del MANE Select NP_000478.3:p.Phe376LeufsTer?
NM_001085425.3:c.1120_1121del NP_001078894.2:p.Phe376LeufsTer?
NM_001085426.3:c.1120_1121del NP_001078895.2:p.Phe376LeufsTer?
NM_001085427.3:c.1120_1121del NP_001078896.2:p.Phe376LeufsTer?
NM_001085428.3:c.862_863del NP_001078897.1:p.Phe290LeufsTer?
NM_001362782.2:c.862_863del NP_001349711.1:p.Phe290LeufsTer?