Canonical Allele Identifier: CA2524274123

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624727_50624728insGGGGGCCCCCCC , CM000684.2:g.50624727_50624728insGGGGGCCCCCCC	GRCh38
NC_000022.10:g.51063155_51063156insGGGGGCCCCCCC , CM000684.1:g.51063155_51063156insGGGGGCCCCCCC	GRCh37
NC_000022.9:g.49410021_49410022insGGGGGCCCCCCC	NCBI36
NG_009260.2:g.8455_8456insGGGGCCCCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*420_*421insGGGGCCCCCGGG MANE Select	ENSP00000216124.5:n.*420_*421insGGGGCCCCCGGG
ENST00000608497.1:c.180+638_180+639insGGGGCCCCCGGG
NM_000487.5:c.*420_*421insGGGGCCCCCGGG	NP_000478.3:n.*420_*421insGGGGCCCCCGGG
NM_001085425.2:c.*420_*421insGGGGCCCCCGGG	NP_001078894.2:n.*420_*421insGGGGCCCCCGGG
NM_001085426.2:c.*420_*421insGGGGCCCCCGGG	NP_001078895.2:n.*420_*421insGGGGCCCCCGGG
NM_001085427.2:c.*420_*421insGGGGCCCCCGGG	NP_001078896.2:n.*420_*421insGGGGCCCCCGGG
NM_001085428.2:c.*420_*421insGGGGCCCCCGGG	NP_001078897.1:n.*420_*421insGGGGCCCCCGGG
NM_001362782.1:c.*420_*421insGGGGCCCCCGGG	NP_001349711.1:n.*420_*421insGGGGCCCCCGGG
NM_000487.6:c.*420_*421insGGGGCCCCCGGG MANE Select	NP_000478.3:n.*420_*421insGGGGCCCCCGGG
NM_001085425.3:c.*420_*421insGGGGCCCCCGGG	NP_001078894.2:n.*420_*421insGGGGCCCCCGGG
NM_001085426.3:c.*420_*421insGGGGCCCCCGGG	NP_001078895.2:n.*420_*421insGGGGCCCCCGGG
NM_001085427.3:c.*420_*421insGGGGCCCCCGGG	NP_001078896.2:n.*420_*421insGGGGCCCCCGGG
NM_001085428.3:c.*420_*421insGGGGCCCCCGGG	NP_001078897.1:n.*420_*421insGGGGCCCCCGGG
NM_001362782.2:c.*420_*421insGGGGCCCCCGGG	NP_001349711.1:n.*420_*421insGGGGCCCCCGGG