Canonical Allele Identifier: CA2819314707

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627218_50627219dup , CM000684.2:g.50627218_50627219dup	GRCh38
NC_000022.10:g.51065646_51065647dup , CM000684.1:g.51065646_51065647dup	GRCh37
NC_000022.9:g.49412512_49412513dup	NCBI36
NG_009260.2:g.5966_5967dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.417_418dup MANE Select	ENSP00000216124.5:p.His140ProfsTer9
ENST00000216124.9:c.417_418dup	ENSP00000216124.5:p.His140ProfsTer9
ENST00000356098.9:c.417_418dup	ENSP00000348406.5:p.His140ProfsTer9
ENST00000395619.3:c.417_418dup	ENSP00000378981.3:p.His140ProfsTer9
ENST00000395621.7:c.417_418dup	ENSP00000378983.3:p.His140ProfsTer9
ENST00000453344.6:c.159_160dup	ENSP00000412542.2:p.His54ProfsTer9
ENST00000551731.1:n.808_809dup
NM_000487.5:c.417_418dup	NP_000478.3:p.His140ProfsTer9
NM_001085425.2:c.417_418dup	NP_001078894.2:p.His140ProfsTer9
NM_001085426.2:c.417_418dup	NP_001078895.2:p.His140ProfsTer9
NM_001085427.2:c.417_418dup	NP_001078896.2:p.His140ProfsTer9
NM_001085428.2:c.159_160dup	NP_001078897.1:p.His54ProfsTer9
XM_011530690.1:c.159_160dup	XP_011528992.1:p.His54ProfsTer9
XM_011530691.1:c.417_418dup	XP_011528993.1:p.His140ProfsTer9
NM_001362782.1:c.159_160dup	NP_001349711.1:p.His54ProfsTer9
XM_011530691.3:c.417_418dup	XP_011528993.1:p.His140ProfsTer9
XM_017028800.1:c.417_418dup	XP_016884289.1:p.His140ProfsTer9
XM_024452241.1:c.417_418dup	XP_024308009.1:p.His140ProfsTer9
NM_000487.6:c.417_418dup MANE Select	NP_000478.3:p.His140ProfsTer9
NM_001085425.3:c.417_418dup	NP_001078894.2:p.His140ProfsTer9
NM_001085426.3:c.417_418dup	NP_001078895.2:p.His140ProfsTer9
NM_001085427.3:c.417_418dup	NP_001078896.2:p.His140ProfsTer9
NM_001085428.3:c.159_160dup	NP_001078897.1:p.His54ProfsTer9
NM_001362782.2:c.159_160dup	NP_001349711.1:p.His54ProfsTer9