Canonical Allele Identifier: CA2819315750

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624736_50624743dup , CM000684.2:g.50624736_50624743dup	GRCh38
NC_000022.10:g.51063164_51063171dup , CM000684.1:g.51063164_51063171dup	GRCh37
NC_000022.9:g.49410030_49410037dup	NCBI36
NG_009260.2:g.8450_8457dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*415_*422dup MANE Select	ENSP00000216124.5:n.*415_*422dup
ENST00000608497.1:c.180+633_180+640dup
NM_000487.5:c.*415_*422dup	NP_000478.3:n.*415_*422dup
NM_001085425.2:c.*415_*422dup	NP_001078894.2:n.*415_*422dup
NM_001085426.2:c.*415_*422dup	NP_001078895.2:n.*415_*422dup
NM_001085427.2:c.*415_*422dup	NP_001078896.2:n.*415_*422dup
NM_001085428.2:c.*415_*422dup	NP_001078897.1:n.*415_*422dup
NM_001362782.1:c.*415_*422dup	NP_001349711.1:n.*415_*422dup
NM_000487.6:c.*415_*422dup MANE Select	NP_000478.3:n.*415_*422dup
NM_001085425.3:c.*415_*422dup	NP_001078894.2:n.*415_*422dup
NM_001085426.3:c.*415_*422dup	NP_001078895.2:n.*415_*422dup
NM_001085427.3:c.*415_*422dup	NP_001078896.2:n.*415_*422dup
NM_001085428.3:c.*415_*422dup	NP_001078897.1:n.*415_*422dup
NM_001362782.2:c.*415_*422dup	NP_001349711.1:n.*415_*422dup