Canonical Allele Identifier: CA278424
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 93124
ClinVar RCV Id: RCV000078948
dbSNP Id: rs398123416

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626935del , CM000684.2:g.50626935del GRCh38
NC_000022.10:g.51065363del , CM000684.1:g.51065363del GRCh37
NC_000022.9:g.49412229del NCBI36
NG_009260.2:g.6245del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.583del MANE Select ENSP00000216124.5:p.Trp195GlyfsTer5
ENST00000216124.9:c.583del ENSP00000216124.5:p.Trp195GlyfsTer5
ENST00000356098.9:c.583del ENSP00000348406.5:p.Trp195GlyfsTer5
ENST00000395619.3:c.583del ENSP00000378981.3:p.Trp195GlyfsTer5
ENST00000395621.7:c.583del ENSP00000378983.3:p.Trp195GlyfsTer5
ENST00000453344.6:c.325del ENSP00000412542.2:p.Trp109GlyfsTer5
ENST00000551731.1:n.1087del
NM_000487.5:c.583del NP_000478.3:p.Trp195GlyfsTer5
NM_001085425.2:c.583del NP_001078894.2:p.Trp195GlyfsTer5
NM_001085426.2:c.583del NP_001078895.2:p.Trp195GlyfsTer5
NM_001085427.2:c.583del NP_001078896.2:p.Trp195GlyfsTer5
NM_001085428.2:c.325del NP_001078897.1:p.Trp109GlyfsTer5
XM_011530690.1:c.325del XP_011528992.1:p.Trp109GlyfsTer5
XM_011530691.1:c.583del XP_011528993.1:p.Trp195GlyfsTer5
NM_001362782.1:c.325del NP_001349711.1:p.Trp109GlyfsTer5
XM_011530691.3:c.583del XP_011528993.1:p.Trp195GlyfsTer5
XM_017028800.1:c.583del XP_016884289.1:p.Trp195GlyfsTer5
XM_024452241.1:c.583del XP_024308009.1:p.Trp195GlyfsTer5
NM_000487.6:c.583del MANE Select NP_000478.3:p.Trp195GlyfsTer5
NM_001085425.3:c.583del NP_001078894.2:p.Trp195GlyfsTer5
NM_001085426.3:c.583del NP_001078895.2:p.Trp195GlyfsTer5
NM_001085427.3:c.583del NP_001078896.2:p.Trp195GlyfsTer5
NM_001085428.3:c.325del NP_001078897.1:p.Trp109GlyfsTer5
NM_001362782.2:c.325del NP_001349711.1:p.Trp109GlyfsTer5