Canonical Allele Identifier: CA1026680388

Gene: ARSA

Linked Data

• gnomAD v3: 22-50625559-G-GGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC
• gnomAD v4: 22-50625559-G-GGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625559_50625560insGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC , CM000684.2:g.50625559_50625560insGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC	GRCh38
NC_000022.10:g.51063987_51063988insGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC , CM000684.1:g.51063987_51063988insGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC	GRCh37
NC_000022.9:g.49410853_49410854insGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTAGGGGGAGGC	NCBI36
NG_009260.2:g.7620_7621insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC MANE Select	ENSP00000216124.5:n.1210+19_1210+20insGCC...
ENST00000216124.9:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	ENSP00000216124.5:n.1210+19_1210+20insGCC...
ENST00000356098.9:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	ENSP00000348406.5:n.1210+19_1210+20insGCC...
ENST00000395619.3:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	ENSP00000378981.3:n.1210+19_1210+20insGCC...
ENST00000395621.7:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	ENSP00000378983.3:n.1210+19_1210+20insGCC...
ENST00000453344.6:c.952+19_952+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	ENSP00000412542.2:n.952+19_952+20insGCCTC...
ENST00000608497.1:c.78+19_78+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC
NM_000487.5:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_000478.3:n.1210+19_1210+20insGCCTCCCCC...
NM_001085425.2:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078894.2:n.1210+19_1210+20insGCCTCC...
NM_001085426.2:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078895.2:n.1210+19_1210+20insGCCTCC...
NM_001085427.2:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078896.2:n.1210+19_1210+20insGCCTCC...
NM_001085428.2:c.952+19_952+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078897.1:n.952+19_952+20insGCCTCCCC...
XM_011530690.1:c.952+19_952+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	XP_011528992.1:n.952+19_952+20insGCCTCCCC...
XM_011530691.1:c.1108-96_1108-95insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	XP_011528993.1:n.1108-96_1108-95insGCCTCC...
NM_001362782.1:c.952+19_952+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001349711.1:n.952+19_952+20insGCCTCCCC...
XM_011530691.3:c.1108-96_1108-95insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	XP_011528993.1:n.1108-96_1108-95insGCCTCC...
XM_017028800.1:c.1229_1230insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	XP_016884289.1:p.Ile410MetfsTer28
XM_024452241.1:c.1108-96_1108-95insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	XP_024308009.1:n.1108-96_1108-95insGCCTCC...
NM_000487.6:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC MANE Select	NP_000478.3:n.1210+19_1210+20insGCCTCCCCC...
NM_001085425.3:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078894.2:n.1210+19_1210+20insGCCTCC...
NM_001085426.3:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078895.2:n.1210+19_1210+20insGCCTCC...
NM_001085427.3:c.1210+19_1210+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078896.2:n.1210+19_1210+20insGCCTCC...
NM_001085428.3:c.952+19_952+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001078897.1:n.952+19_952+20insGCCTCCCC...
NM_001362782.2:c.952+19_952+20insGCCTCCCCCTAGGCTCACTTCTTCACCCAGGGTAACCCCTCCC	NP_001349711.1:n.952+19_952+20insGCCTCCCC...