Canonical Allele Identifier: CA2580100014

Gene: ARSA

Linked Data

• ClinVar Variation Id: 2017606
• ClinVar RCV Id: RCV002856891

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627666dup , CM000684.2:g.50627666dup	GRCh38
NC_000022.10:g.51066094dup , CM000684.1:g.51066094dup	GRCh37
NC_000022.9:g.49412960dup	NCBI36
NG_009260.2:g.5516dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.116dup MANE Select	ENSP00000216124.5:p.Cys40LeufsTer?
ENST00000216124.9:c.116dup	ENSP00000216124.5:p.Cys40LeufsTer?
ENST00000356098.9:c.116dup	ENSP00000348406.5:p.Cys40LeufsTer?
ENST00000395619.3:c.116dup	ENSP00000378981.3:p.Cys40LeufsTer?
ENST00000395621.7:c.116dup	ENSP00000378983.3:p.Cys40LeufsTer?
ENST00000453344.6:c.-34-258dup	ENSP00000412542.2:n.-34-258dup
ENST00000551731.1:n.507dup
NM_000487.5:c.116dup	NP_000478.3:p.Cys40LeufsTer?
NM_001085425.2:c.116dup	NP_001078894.2:p.Cys40LeufsTer?
NM_001085426.2:c.116dup	NP_001078895.2:p.Cys40LeufsTer?
NM_001085427.2:c.116dup	NP_001078896.2:p.Cys40LeufsTer?
NM_001085428.2:c.-34-258dup	NP_001078897.1:n.-34-258dup
XM_011530690.1:c.-34-258dup	XP_011528992.1:n.-34-258dup
XM_011530691.1:c.116dup	XP_011528993.1:p.Cys40LeufsTer?
NM_001362782.1:c.-34-258dup	NP_001349711.1:n.-34-258dup
XM_011530691.3:c.116dup	XP_011528993.1:p.Cys40LeufsTer?
XM_017028800.1:c.116dup	XP_016884289.1:p.Cys40LeufsTer?
XM_024452241.1:c.116dup	XP_024308009.1:p.Cys40LeufsTer?
NM_000487.6:c.116dup MANE Select	NP_000478.3:p.Cys40LeufsTer?
NM_001085425.3:c.116dup	NP_001078894.2:p.Cys40LeufsTer?
NM_001085426.3:c.116dup	NP_001078895.2:p.Cys40LeufsTer?
NM_001085427.3:c.116dup	NP_001078896.2:p.Cys40LeufsTer?
NM_001085428.3:c.-34-258dup	NP_001078897.1:n.-34-258dup
NM_001362782.2:c.-34-258dup	NP_001349711.1:n.-34-258dup