Canonical Allele Identifier: CA115971
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3062
dbSNP Id: rs199476371

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50627338_50627339delinsAG , CM000684.2:g.50627338_50627339delinsAG GRCh38
NC_000022.10:g.51065766_51065767delinsAG , CM000684.1:g.51065766_51065767delinsAG GRCh37
NC_000022.9:g.49412632_49412633delinsAG NCBI36
NG_009260.2:g.5841_5842delinsCT

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.292_293delinsCT VV NP_000478.3:p.Ser98Leu
NM_001085425.2:c.292_293delinsCT VV NP_001078894.2:p.Ser98Leu
NM_001085426.2:c.292_293delinsCT VV NP_001078895.2:p.Ser98Leu
NM_001085427.2:c.292_293delinsCT VV NP_001078896.2:p.Ser98Leu
NM_001085428.2:c.34_35delinsCT VV NP_001078897.1:p.Ser12Leu
XM_011530690.1:c.34_35delinsCT XP_011528992.1:p.Ser12Leu
XM_011530691.1:c.292_293delinsCT XP_011528993.1:p.Ser98Leu
NM_001362782.1:c.34_35delinsCT VV NP_001349711.1:p.Ser12Leu
XM_011530691.3:c.292_293delinsCT
XM_017028800.1:c.292_293delinsCT XP_016884289.1:p.Ser98Leu
XM_024452241.1:c.292_293delinsCT XP_024308009.1:p.Ser98Leu
NM_000487.6:c.292_293delinsCT VV MANE Preferred
ENST00000216124.9:c.292_293delinsCT ENSP00000216124.5:p.Ser98Leu
ENST00000356098.9:c.292_293delinsCT ENSP00000348406.5:p.Ser98Leu
ENST00000395619.3:c.292_293delinsCT ENSP00000378981.3:p.Ser98Leu
ENST00000395621.7:c.292_293delinsCT ENSP00000378983.3:p.Ser98Leu
ENST00000453344.6:c.34_35delinsCT ENSP00000412542.2:p.Ser12Leu
ENST00000551731.1:n.683_684delinsCT