Canonical Allele Identifier: CA754067155
Gene: ARSA HGNC NCBI

Linked Data

dbSNP Id: rs1320982910

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625072del , CM000684.2:g.50625072del GRCh38
NC_000022.10:g.51063500del , CM000684.1:g.51063500del GRCh37
NC_000022.9:g.49410366del NCBI36
NG_009260.2:g.8112del

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*77del MANE Select ENSP00000216124.5:n.*77del
ENST00000216124.9:c.*77del ENSP00000216124.5:n.*77del
ENST00000356098.9:c.*77del ENSP00000348406.5:n.*77del
ENST00000395619.3:c.*77del ENSP00000378981.3:n.*77del
ENST00000395621.7:c.*77del ENSP00000378983.3:n.*77del
ENST00000453344.6:c.*77del ENSP00000412542.2:n.*77del
ENST00000608497.1:c.180+295del
NM_000487.5:c.*77del NP_000478.3:n.*77del
NM_001085425.2:c.*77del NP_001078894.2:n.*77del
NM_001085426.2:c.*77del NP_001078895.2:n.*77del
NM_001085427.2:c.*77del NP_001078896.2:n.*77del
NM_001085428.2:c.*77del NP_001078897.1:n.*77del
XM_011530690.1:c.*77del XP_011528992.1:n.*77del
XM_011530691.1:c.*340del XP_011528993.1:n.*340del
NM_001362782.1:c.*77del NP_001349711.1:n.*77del
XM_011530691.3:c.*340del XP_011528993.1:n.*340del
XM_017028800.1:c.*77del XP_016884289.1:n.*77del
XM_024452241.1:c.*340del XP_024308009.1:n.*340del
NM_000487.6:c.*77del MANE Select NP_000478.3:n.*77del
NM_001085425.3:c.*77del NP_001078894.2:n.*77del
NM_001085426.3:c.*77del NP_001078895.2:n.*77del
NM_001085427.3:c.*77del NP_001078896.2:n.*77del
NM_001085428.3:c.*77del NP_001078897.1:n.*77del
NM_001362782.2:c.*77del NP_001349711.1:n.*77del