Canonical Allele Identifier: CA2410957453

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623538_50623539delinsGA , CM000684.2:g.50623538_50623539delinsGA	GRCh38
NC_000022.10:g.51061966_51061967delinsGA , CM000684.1:g.51061966_51061967delinsGA	GRCh37
NC_000022.9:g.49408832_49408833delinsGA	NCBI36
NG_009260.2:g.9641_9642delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1606_*1607delinsTC MANE Select	ENSP00000216124.5:n.*1606_*1607delinsTC
ENST00000608497.1:c.302+235_302+236delinsTC
NM_000487.5:c.*1606_*1607delinsTC	NP_000478.3:n.*1606_*1607delinsTC
NM_001085425.2:c.*1606_*1607delinsTC	NP_001078894.2:n.*1606_*1607delinsTC
NM_001085426.2:c.*1606_*1607delinsTC	NP_001078895.2:n.*1606_*1607delinsTC
NM_001085427.2:c.*1606_*1607delinsTC	NP_001078896.2:n.*1606_*1607delinsTC
NM_001085428.2:c.*1606_*1607delinsTC	NP_001078897.1:n.*1606_*1607delinsTC
NM_001362782.1:c.*1606_*1607delinsTC	NP_001349711.1:n.*1606_*1607delinsTC
NM_000487.6:c.*1606_*1607delinsTC MANE Select	NP_000478.3:n.*1606_*1607delinsTC
NM_001085425.3:c.*1606_*1607delinsTC	NP_001078894.2:n.*1606_*1607delinsTC
NM_001085426.3:c.*1606_*1607delinsTC	NP_001078895.2:n.*1606_*1607delinsTC
NM_001085427.3:c.*1606_*1607delinsTC	NP_001078896.2:n.*1606_*1607delinsTC
NM_001085428.3:c.*1606_*1607delinsTC	NP_001078897.1:n.*1606_*1607delinsTC
NM_001362782.2:c.*1606_*1607delinsTC	NP_001349711.1:n.*1606_*1607delinsTC