Canonical Allele Identifier: CA2695231019

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625183_50625188dup , CM000684.2:g.50625183_50625188dup	GRCh38
NC_000022.10:g.51063611_51063616dup , CM000684.1:g.51063611_51063616dup	GRCh37
NC_000022.9:g.49410477_49410482dup	NCBI36
NG_009260.2:g.7992_7997dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1487_1492dup MANE Select	ENSP00000216124.5:p.Pro497_Arg498insProPr...
ENST00000216124.9:c.1487_1492dup	ENSP00000216124.5:p.Pro497_Arg498insProPr...
ENST00000356098.9:c.1487_1492dup	ENSP00000348406.5:p.Pro497_Arg498insProPr...
ENST00000395619.3:c.1487_1492dup	ENSP00000378981.3:p.Pro497_Arg498insProPr...
ENST00000395621.7:c.1487_1492dup	ENSP00000378983.3:p.Pro497_Arg498insProPr...
ENST00000453344.6:c.1229_1234dup	ENSP00000412542.2:p.Pro411_Arg412insProPr...
ENST00000608497.1:c.180+175_180+180dup
NM_000487.5:c.1487_1492dup	NP_000478.3:p.Pro497_Arg498insProPro
NM_001085425.2:c.1487_1492dup	NP_001078894.2:p.Pro497_Arg498insProPro
NM_001085426.2:c.1487_1492dup	NP_001078895.2:p.Pro497_Arg498insProPro
NM_001085427.2:c.1487_1492dup	NP_001078896.2:p.Pro497_Arg498insProPro
NM_001085428.2:c.1229_1234dup	NP_001078897.1:p.Pro411_Arg412insProPro
XM_011530690.1:c.1229_1234dup	XP_011528992.1:p.Pro411_Arg412insProPro
XM_011530691.1:c.*220_*225dup	XP_011528993.1:n.*220_*225dup
NM_001362782.1:c.1229_1234dup	NP_001349711.1:p.Pro411_Arg412insProPro
XM_011530691.3:c.*220_*225dup	XP_011528993.1:n.*220_*225dup
XM_017028800.1:c.1601_1606dup	XP_016884289.1:p.Pro535_Arg536insProPro
XM_024452241.1:c.*220_*225dup	XP_024308009.1:n.*220_*225dup
NM_000487.6:c.1487_1492dup MANE Select	NP_000478.3:p.Pro497_Arg498insProPro
NM_001085425.3:c.1487_1492dup	NP_001078894.2:p.Pro497_Arg498insProPro
NM_001085426.3:c.1487_1492dup	NP_001078895.2:p.Pro497_Arg498insProPro
NM_001085427.3:c.1487_1492dup	NP_001078896.2:p.Pro497_Arg498insProPro
NM_001085428.3:c.1229_1234dup	NP_001078897.1:p.Pro411_Arg412insProPro
NM_001362782.2:c.1229_1234dup	NP_001349711.1:p.Pro411_Arg412insProPro