Canonical Allele Identifier: CA278421

Gene: ARSA

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625668_50625669del , CM000684.2:g.50625668_50625669del	GRCh38
NC_000022.10:g.51064096_51064097del , CM000684.1:g.51064096_51064097del	GRCh37
NC_000022.9:g.49410962_49410963del	NCBI36
NG_009260.2:g.7516_7517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1125_1126del MANE Select	ENSP00000216124.5:p.Phe376LeufsTer?
ENST00000216124.9:c.1125_1126del	ENSP00000216124.5:p.Phe376LeufsTer?
ENST00000356098.9:c.1125_1126del	ENSP00000348406.5:p.Phe376LeufsTer?
ENST00000395619.3:c.1125_1126del	ENSP00000378981.3:p.Phe376LeufsTer?
ENST00000395621.7:c.1125_1126del	ENSP00000378983.3:p.Phe376LeufsTer?
ENST00000453344.6:c.867_868del	ENSP00000412542.2:p.Phe290LeufsTer?
NM_000487.5:c.1125_1126del	NP_000478.3:p.Phe376LeufsTer?
NM_001085425.2:c.1125_1126del	NP_001078894.2:p.Phe376LeufsTer?
NM_001085426.2:c.1125_1126del	NP_001078895.2:p.Phe376LeufsTer?
NM_001085427.2:c.1125_1126del	NP_001078896.2:p.Phe376LeufsTer?
NM_001085428.2:c.867_868del	NP_001078897.1:p.Phe290LeufsTer?
XM_011530690.1:c.867_868del	XP_011528992.1:p.Phe290LeufsTer?
XM_011530691.1:c.1108-200_1108-199del	XP_011528993.1:n.1108-200_1108-199del
NM_001362782.1:c.867_868del	NP_001349711.1:p.Phe290LeufsTer?
XM_011530691.3:c.1108-200_1108-199del	XP_011528993.1:n.1108-200_1108-199del
XM_017028800.1:c.1125_1126del	XP_016884289.1:p.Phe376LeufsTer29
XM_024452241.1:c.1108-200_1108-199del	XP_024308009.1:n.1108-200_1108-199del
NM_000487.6:c.1125_1126del MANE Select	NP_000478.3:p.Phe376LeufsTer?
NM_001085425.3:c.1125_1126del	NP_001078894.2:p.Phe376LeufsTer?
NM_001085426.3:c.1125_1126del	NP_001078895.2:p.Phe376LeufsTer?
NM_001085427.3:c.1125_1126del	NP_001078896.2:p.Phe376LeufsTer?
NM_001085428.3:c.867_868del	NP_001078897.1:p.Phe290LeufsTer?
NM_001362782.2:c.867_868del	NP_001349711.1:p.Phe290LeufsTer?