Canonical Allele Identifier: CA2657591263

Gene: ARSA

Linked Data

• gnomAD v4: 22-50625721-C-CGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625721_50625722insGTG , CM000684.2:g.50625721_50625722insGTG	GRCh38
NC_000022.10:g.51064149_51064150insGTG , CM000684.1:g.51064149_51064150insGTG	GRCh37
NC_000022.9:g.49411015_49411016insGTG	NCBI36
NG_009260.2:g.7458_7459insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1108-41_1108-40insCAC MANE Select	ENSP00000216124.5:n.1108-41_1108-40insCAC
ENST00000216124.9:c.1108-41_1108-40insCAC	ENSP00000216124.5:n.1108-41_1108-40insCAC
ENST00000356098.9:c.1108-41_1108-40insCAC	ENSP00000348406.5:n.1108-41_1108-40insCAC
ENST00000395619.3:c.1108-41_1108-40insCAC	ENSP00000378981.3:n.1108-41_1108-40insCAC
ENST00000395621.7:c.1108-41_1108-40insCAC	ENSP00000378983.3:n.1108-41_1108-40insCAC
ENST00000453344.6:c.850-41_850-40insCAC	ENSP00000412542.2:n.850-41_850-40insCAC
NM_000487.5:c.1108-41_1108-40insCAC	NP_000478.3:n.1108-41_1108-40insCAC
NM_001085425.2:c.1108-41_1108-40insCAC	NP_001078894.2:n.1108-41_1108-40insCAC
NM_001085426.2:c.1108-41_1108-40insCAC	NP_001078895.2:n.1108-41_1108-40insCAC
NM_001085427.2:c.1108-41_1108-40insCAC	NP_001078896.2:n.1108-41_1108-40insCAC
NM_001085428.2:c.850-41_850-40insCAC	NP_001078897.1:n.850-41_850-40insCAC
XM_011530690.1:c.850-41_850-40insCAC	XP_011528992.1:n.850-41_850-40insCAC
XM_011530691.1:c.1107+214_1107+215insCAC	XP_011528993.1:n.1107+214_1107+215insCAC
NM_001362782.1:c.850-41_850-40insCAC	NP_001349711.1:n.850-41_850-40insCAC
XM_011530691.3:c.1107+214_1107+215insCAC	XP_011528993.1:n.1107+214_1107+215insCAC
XM_017028800.1:c.1108-41_1108-40insCAC	XP_016884289.1:n.1108-41_1108-40insCAC
XM_024452241.1:c.1107+214_1107+215insCAC	XP_024308009.1:n.1107+214_1107+215insCAC
NM_000487.6:c.1108-41_1108-40insCAC MANE Select	NP_000478.3:n.1108-41_1108-40insCAC
NM_001085425.3:c.1108-41_1108-40insCAC	NP_001078894.2:n.1108-41_1108-40insCAC
NM_001085426.3:c.1108-41_1108-40insCAC	NP_001078895.2:n.1108-41_1108-40insCAC
NM_001085427.3:c.1108-41_1108-40insCAC	NP_001078896.2:n.1108-41_1108-40insCAC
NM_001085428.3:c.850-41_850-40insCAC	NP_001078897.1:n.850-41_850-40insCAC
NM_001362782.2:c.850-41_850-40insCAC	NP_001349711.1:n.850-41_850-40insCAC