Canonical Allele Identifier: CA2657589135
Gene: ARSA HGNC NCBI

Linked Data

gnomAD v4: 22-50623659-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50623660del , CM000684.2:g.50623660del GRCh38
NC_000022.10:g.51062088del , CM000684.1:g.51062088del GRCh37
NC_000022.9:g.49408954del NCBI36
NG_009260.2:g.9520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216124.10:c.*1485del MANE Select ENSP00000216124.5:n.*1485del
ENST00000608497.1:c.302+114del
NM_000487.5:c.*1485del NP_000478.3:n.*1485del
NM_001085425.2:c.*1485del NP_001078894.2:n.*1485del
NM_001085426.2:c.*1485del NP_001078895.2:n.*1485del
NM_001085427.2:c.*1485del NP_001078896.2:n.*1485del
NM_001085428.2:c.*1485del NP_001078897.1:n.*1485del
NM_001362782.1:c.*1485del NP_001349711.1:n.*1485del
NM_000487.6:c.*1485del MANE Select NP_000478.3:n.*1485del
NM_001085425.3:c.*1485del NP_001078894.2:n.*1485del
NM_001085426.3:c.*1485del NP_001078895.2:n.*1485del
NM_001085427.3:c.*1485del NP_001078896.2:n.*1485del
NM_001085428.3:c.*1485del NP_001078897.1:n.*1485del
NM_001362782.2:c.*1485del NP_001349711.1:n.*1485del
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