Canonical Allele Identifier: CA2410957557

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623740_50623746delinsTAAAAAA , CM000684.2:g.50623740_50623746delinsTAAAAAA	GRCh38
NC_000022.10:g.51062168_51062174delinsTAAAAAA , CM000684.1:g.51062168_51062174delinsTAAAAAA	GRCh37
NC_000022.9:g.49409034_49409040delinsTAAAAAA	NCBI36
NG_009260.2:g.9434_9440delinsTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1399_*1405delinsTTTTTTA MANE Select	ENSP00000216124.5:n.*1399_*1405delinsTTTTTTA
ENST00000608497.1:c.302+28_302+34delinsTTTTTTA
NM_000487.5:c.*1399_*1405delinsTTTTTTA	NP_000478.3:n.*1399_*1405delinsTTTTTTA
NM_001085425.2:c.*1399_*1405delinsTTTTTTA	NP_001078894.2:n.*1399_*1405delinsTTTTTTA
NM_001085426.2:c.*1399_*1405delinsTTTTTTA	NP_001078895.2:n.*1399_*1405delinsTTTTTTA
NM_001085427.2:c.*1399_*1405delinsTTTTTTA	NP_001078896.2:n.*1399_*1405delinsTTTTTTA
NM_001085428.2:c.*1399_*1405delinsTTTTTTA	NP_001078897.1:n.*1399_*1405delinsTTTTTTA
NM_001362782.1:c.*1399_*1405delinsTTTTTTA	NP_001349711.1:n.*1399_*1405delinsTTTTTTA
NM_000487.6:c.*1399_*1405delinsTTTTTTA MANE Select	NP_000478.3:n.*1399_*1405delinsTTTTTTA
NM_001085425.3:c.*1399_*1405delinsTTTTTTA	NP_001078894.2:n.*1399_*1405delinsTTTTTTA
NM_001085426.3:c.*1399_*1405delinsTTTTTTA	NP_001078895.2:n.*1399_*1405delinsTTTTTTA
NM_001085427.3:c.*1399_*1405delinsTTTTTTA	NP_001078896.2:n.*1399_*1405delinsTTTTTTA
NM_001085428.3:c.*1399_*1405delinsTTTTTTA	NP_001078897.1:n.*1399_*1405delinsTTTTTTA
NM_001362782.2:c.*1399_*1405delinsTTTTTTA	NP_001349711.1:n.*1399_*1405delinsTTTTTTA