Canonical Allele Identifier: CA278517
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 198735
dbSNP Id: rs80338823

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625260_50625270del , CM000684.2:g.50625260_50625270del GRCh38
NC_000022.10:g.51063688_51063698del , CM000684.1:g.51063688_51063698del GRCh37
NC_000022.9:g.49410554_49410564del NCBI36
NG_009260.2:g.7913_7923del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1408_1418del MANE Select ENSP00000216124.5:p.Ala470LeufsTer?
ENST00000216124.9:c.1408_1418del ENSP00000216124.5:p.Ala470LeufsTer?
ENST00000356098.9:c.1408_1418del ENSP00000348406.5:p.Ala470LeufsTer?
ENST00000395619.3:c.1408_1418del ENSP00000378981.3:p.Ala470LeufsTer?
ENST00000395621.7:c.1408_1418del ENSP00000378983.3:p.Ala470LeufsTer?
ENST00000453344.6:c.1150_1160del ENSP00000412542.2:p.Ala384LeufsTer?
ENST00000608497.1:c.180+96_180+106del
NM_000487.5:c.1408_1418del NP_000478.3:p.Ala470LeufsTer?
NM_001085425.2:c.1408_1418del NP_001078894.2:p.Ala470LeufsTer?
NM_001085426.2:c.1408_1418del NP_001078895.2:p.Ala470LeufsTer?
NM_001085427.2:c.1408_1418del NP_001078896.2:p.Ala470LeufsTer?
NM_001085428.2:c.1150_1160del NP_001078897.1:p.Ala384LeufsTer?
XM_011530690.1:c.1150_1160del XP_011528992.1:p.Ala384LeufsTer?
XM_011530691.1:c.*141_*151del XP_011528993.1:n.*141_*151del
NM_001362782.1:c.1150_1160del NP_001349711.1:p.Ala384LeufsTer?
XM_011530691.3:c.*141_*151del XP_011528993.1:n.*141_*151del
XM_017028800.1:c.1522_1532del XP_016884289.1:p.Ala508LeufsTer?
XM_024452241.1:c.*141_*151del XP_024308009.1:n.*141_*151del
NM_000487.6:c.1408_1418del MANE Select NP_000478.3:p.Ala470LeufsTer?
NM_001085425.3:c.1408_1418del NP_001078894.2:p.Ala470LeufsTer?
NM_001085426.3:c.1408_1418del NP_001078895.2:p.Ala470LeufsTer?
NM_001085427.3:c.1408_1418del NP_001078896.2:p.Ala470LeufsTer?
NM_001085428.3:c.1150_1160del NP_001078897.1:p.Ala384LeufsTer?
NM_001362782.2:c.1150_1160del NP_001349711.1:p.Ala384LeufsTer?