Canonical Allele Identifier: CA325531027
Gene: ARSA HGNC NCBI

Linked Data

dbSNP Id: rs976838886

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624736_50624743del , CM000684.2:g.50624736_50624743del GRCh38
NC_000022.10:g.51063164_51063171del , CM000684.1:g.51063164_51063171del GRCh37
NC_000022.9:g.49410030_49410037del NCBI36
NG_009260.2:g.8450_8457del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*415_*422del MANE Select ENSP00000216124.5:n.*415_*422del
ENST00000608497.1:c.180+633_180+640del
NM_000487.5:c.*415_*422del NP_000478.3:n.*415_*422del
NM_001085425.2:c.*415_*422del NP_001078894.2:n.*415_*422del
NM_001085426.2:c.*415_*422del NP_001078895.2:n.*415_*422del
NM_001085427.2:c.*415_*422del NP_001078896.2:n.*415_*422del
NM_001085428.2:c.*415_*422del NP_001078897.1:n.*415_*422del
NM_001362782.1:c.*415_*422del NP_001349711.1:n.*415_*422del
NM_000487.6:c.*415_*422del MANE Select NP_000478.3:n.*415_*422del
NM_001085425.3:c.*415_*422del NP_001078894.2:n.*415_*422del
NM_001085426.3:c.*415_*422del NP_001078895.2:n.*415_*422del
NM_001085427.3:c.*415_*422del NP_001078896.2:n.*415_*422del
NM_001085428.3:c.*415_*422del NP_001078897.1:n.*415_*422del
NM_001362782.2:c.*415_*422del NP_001349711.1:n.*415_*422del