Canonical Allele Identifier: CA16042046
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 370171
ClinVar RCV Id: RCV000410209
dbSNP Id: rs1057516288

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50627570_50627571del , CM000684.2:g.50627570_50627571del GRCh38
NC_000022.10:g.51065998_51065999del , CM000684.1:g.51065998_51065999del GRCh37
NC_000022.9:g.49412864_49412865del NCBI36
NG_009260.2:g.5611_5612del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.211_212del MANE Select ENSP00000216124.5:p.Cys71HisfsTer4
ENST00000216124.9:c.211_212del ENSP00000216124.5:p.Cys71HisfsTer4
ENST00000356098.9:c.211_212del ENSP00000348406.5:p.Cys71HisfsTer4
ENST00000395619.3:c.211_212del ENSP00000378981.3:p.Cys71HisfsTer4
ENST00000395621.7:c.211_212del ENSP00000378983.3:p.Cys71HisfsTer4
ENST00000453344.6:c.-34-163_-34-162del ENSP00000412542.2:p.=
ENST00000551731.1:n.602_603del
NM_000487.5:c.211_212del NP_000478.3:p.Cys71HisfsTer4
NM_001085425.2:c.211_212del NP_001078894.2:p.Cys71HisfsTer4
NM_001085426.2:c.211_212del NP_001078895.2:p.Cys71HisfsTer4
NM_001085427.2:c.211_212del NP_001078896.2:p.Cys71HisfsTer4
NM_001085428.2:c.-34-163_-34-162del NP_001078897.1:p.=
XM_011530690.1:c.-34-163_-34-162del XP_011528992.1:p.=
XM_011530691.1:c.211_212del XP_011528993.1:p.Cys71HisfsTer4
NM_001362782.1:c.-34-163_-34-162del NP_001349711.1:p.=
XM_011530691.3:c.211_212del XP_011528993.1:p.Cys71HisfsTer4
XM_017028800.1:c.211_212del XP_016884289.1:p.Cys71HisfsTer4
XM_024452241.1:c.211_212del XP_024308009.1:p.Cys71HisfsTer4
NM_000487.6:c.211_212del MANE Select NP_000478.3:p.Cys71HisfsTer4
NM_001085425.3:c.211_212del NP_001078894.2:p.Cys71HisfsTer4
NM_001085426.3:c.211_212del NP_001078895.2:p.Cys71HisfsTer4
NM_001085427.3:c.211_212del NP_001078896.2:p.Cys71HisfsTer4
NM_001085428.3:c.-34-163_-34-162del NP_001078897.1:p.=
NM_001362782.2:c.-34-163_-34-162del NP_001349711.1:p.=