Canonical Allele Identifier: CA2410958026

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624519_50624520delinsGC , CM000684.2:g.50624519_50624520delinsGC	GRCh38
NC_000022.10:g.51062947_51062948delinsGC , CM000684.1:g.51062947_51062948delinsGC	GRCh37
NC_000022.9:g.49409813_49409814delinsGC	NCBI36
NG_009260.2:g.8660_8661delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*625_*626delinsGC MANE Select	ENSP00000216124.5:n.*625_*626delinsGC
ENST00000608497.1:c.181-625_181-624delinsGC
NM_000487.5:c.*625_*626delinsGC	NP_000478.3:n.*625_*626delinsGC
NM_001085425.2:c.*625_*626delinsGC	NP_001078894.2:n.*625_*626delinsGC
NM_001085426.2:c.*625_*626delinsGC	NP_001078895.2:n.*625_*626delinsGC
NM_001085427.2:c.*625_*626delinsGC	NP_001078896.2:n.*625_*626delinsGC
NM_001085428.2:c.*625_*626delinsGC	NP_001078897.1:n.*625_*626delinsGC
NM_001362782.1:c.*625_*626delinsGC	NP_001349711.1:n.*625_*626delinsGC
NM_000487.6:c.*625_*626delinsGC MANE Select	NP_000478.3:n.*625_*626delinsGC
NM_001085425.3:c.*625_*626delinsGC	NP_001078894.2:n.*625_*626delinsGC
NM_001085426.3:c.*625_*626delinsGC	NP_001078895.2:n.*625_*626delinsGC
NM_001085427.3:c.*625_*626delinsGC	NP_001078896.2:n.*625_*626delinsGC
NM_001085428.3:c.*625_*626delinsGC	NP_001078897.1:n.*625_*626delinsGC
NM_001362782.2:c.*625_*626delinsGC	NP_001349711.1:n.*625_*626delinsGC