Canonical Allele Identifier: CA16042033
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 371393
ClinVar RCV Id: RCV000409867
dbSNP Id: rs1057517237

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625287del , CM000684.2:g.50625287del GRCh38
NC_000022.10:g.51063715del , CM000684.1:g.51063715del GRCh37
NC_000022.9:g.49410581del NCBI36
NG_009260.2:g.7893del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1388del MANE Select ENSP00000216124.5:p.Leu463ArgfsTer6
ENST00000216124.9:c.1388del ENSP00000216124.5:p.Leu463ArgfsTer6
ENST00000356098.9:c.1388del ENSP00000348406.5:p.Leu463ArgfsTer6
ENST00000395619.3:c.1388del ENSP00000378981.3:p.Leu463ArgfsTer6
ENST00000395621.7:c.1388del ENSP00000378983.3:p.Leu463ArgfsTer6
ENST00000453344.6:c.1130del ENSP00000412542.2:p.Leu377ArgfsTer6
ENST00000608497.1:n.180+76del
NM_000487.5:c.1388del NP_000478.3:p.Leu463ArgfsTer6
NM_001085425.2:c.1388del NP_001078894.2:p.Leu463ArgfsTer6
NM_001085426.2:c.1388del NP_001078895.2:p.Leu463ArgfsTer6
NM_001085427.2:c.1388del NP_001078896.2:p.Leu463ArgfsTer6
NM_001085428.2:c.1130del NP_001078897.1:p.Leu377ArgfsTer6
XM_011530690.1:c.1130del XP_011528992.1:p.Leu377ArgfsTer6
XM_011530691.1:c.*121del XP_011528993.1:p.=
NM_001362782.1:c.1130del NP_001349711.1:p.Leu377ArgfsTer6
XM_011530691.3:c.*121del XP_011528993.1:p.=
XM_017028800.1:c.1502del XP_016884289.1:p.Leu501ArgfsTer6
XM_024452241.1:c.*121del XP_024308009.1:p.=
NM_000487.6:c.1388del MANE Select NP_000478.3:p.Leu463ArgfsTer6
NM_001085425.3:c.1388del NP_001078894.2:p.Leu463ArgfsTer6
NM_001085426.3:c.1388del NP_001078895.2:p.Leu463ArgfsTer6
NM_001085427.3:c.1388del NP_001078896.2:p.Leu463ArgfsTer6
NM_001085428.3:c.1130del NP_001078897.1:p.Leu377ArgfsTer6
NM_001362782.2:c.1130del NP_001349711.1:p.Leu377ArgfsTer6