Canonical Allele Identifier: CA2987358274

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625202_50625204del , CM000684.2:g.50625202_50625204del	GRCh38
NC_000022.10:g.51063630_51063632del , CM000684.1:g.51063630_51063632del	GRCh37
NC_000022.9:g.49410496_49410498del	NCBI36
NG_009260.2:g.7976_7978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1471_1473del MANE Select	ENSP00000216124.5:p.Cys491del
ENST00000216124.9:c.1471_1473del	ENSP00000216124.5:p.Cys491del
ENST00000356098.9:c.1471_1473del	ENSP00000348406.5:p.Cys491del
ENST00000395619.3:c.1471_1473del	ENSP00000378981.3:p.Cys491del
ENST00000395621.7:c.1471_1473del	ENSP00000378983.3:p.Cys491del
ENST00000453344.6:c.1213_1215del	ENSP00000412542.2:p.Cys405del
ENST00000608497.1:c.180+159_180+161del
NM_000487.5:c.1471_1473del	NP_000478.3:p.Cys491del
NM_001085425.2:c.1471_1473del	NP_001078894.2:p.Cys491del
NM_001085426.2:c.1471_1473del	NP_001078895.2:p.Cys491del
NM_001085427.2:c.1471_1473del	NP_001078896.2:p.Cys491del
NM_001085428.2:c.1213_1215del	NP_001078897.1:p.Cys405del
XM_011530690.1:c.1213_1215del	XP_011528992.1:p.Cys405del
XM_011530691.1:c.*204_*206del	XP_011528993.1:n.*204_*206del
NM_001362782.1:c.1213_1215del	NP_001349711.1:p.Cys405del
XM_011530691.3:c.*204_*206del	XP_011528993.1:n.*204_*206del
XM_017028800.1:c.1585_1587del	XP_016884289.1:p.Cys529del
XM_024452241.1:c.*204_*206del	XP_024308009.1:n.*204_*206del
NM_000487.6:c.1471_1473del MANE Select	NP_000478.3:p.Cys491del
NM_001085425.3:c.1471_1473del	NP_001078894.2:p.Cys491del
NM_001085426.3:c.1471_1473del	NP_001078895.2:p.Cys491del
NM_001085427.3:c.1471_1473del	NP_001078896.2:p.Cys491del
NM_001085428.3:c.1213_1215del	NP_001078897.1:p.Cys405del
NM_001362782.2:c.1213_1215del	NP_001349711.1:p.Cys405del