Canonical Allele Identifier: CA16042036
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 370945
ClinVar RCV Id: RCV000411535
dbSNP Id: rs1057516887
MyVariant Identifiers: chr22:g.51064579_51064582del (hg19) chr22:g.50626151_50626154del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626152_50626155del , CM000684.2:g.50626152_50626155del GRCh38
NC_000022.10:g.51064580_51064583del , CM000684.1:g.51064580_51064583del GRCh37
NC_000022.9:g.49411446_49411449del NCBI36
NG_009260.2:g.7026_7029del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.979_979+3del
ENST00000216124.9:c.979_979+3del
ENST00000356098.9:c.979_979+3del
ENST00000395619.3:c.979_979+3del
ENST00000395621.7:c.979_979+3del
ENST00000453344.6:c.721_721+3del
NM_000487.5:c.979_979+3del
NM_001085425.2:c.979_979+3del
NM_001085426.2:c.979_979+3del
NM_001085427.2:c.979_979+3del
NM_001085428.2:c.721_721+3del
XM_011530690.1:c.721_721+3del
XM_011530691.1:c.979_979+3del
NM_001362782.1:c.721_721+3del
XM_011530691.3:c.979_979+3del
XM_017028800.1:c.979_979+3del
XM_024452241.1:c.979_979+3del
NM_000487.6:c.979_979+3del
NM_001085425.3:c.979_979+3del
NM_001085426.3:c.979_979+3del
NM_001085427.3:c.979_979+3del
NM_001085428.3:c.721_721+3del
NM_001362782.2:c.721_721+3del
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