Canonical Allele Identifier: CA2657591231

Gene: ARSA

Linked Data

• gnomAD v4: 22-50625708-G-GCCTGTCCCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625709_50625710insCTGTCCCGCCCC , CM000684.2:g.50625709_50625710insCTGTCCCGCCCC	GRCh38
NC_000022.10:g.51064137_51064138insCTGTCCCGCCCC , CM000684.1:g.51064137_51064138insCTGTCCCGCCCC	GRCh37
NC_000022.9:g.49411003_49411004insCTGTCCCGCCCC	NCBI36
NG_009260.2:g.7471_7472insGGGCGGGACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1108-28_1108-27insGGGCGGGACAGG MANE Select	ENSP00000216124.5:n.1108-28_1108-27insGGGCGGGACAGG
ENST00000216124.9:c.1108-28_1108-27insGGGCGGGACAGG	ENSP00000216124.5:n.1108-28_1108-27insGGGCGGGACAGG
ENST00000356098.9:c.1108-28_1108-27insGGGCGGGACAGG	ENSP00000348406.5:n.1108-28_1108-27insGGGCGGGACAGG
ENST00000395619.3:c.1108-28_1108-27insGGGCGGGACAGG	ENSP00000378981.3:n.1108-28_1108-27insGGGCGGGACAGG
ENST00000395621.7:c.1108-28_1108-27insGGGCGGGACAGG	ENSP00000378983.3:n.1108-28_1108-27insGGGCGGGACAGG
ENST00000453344.6:c.850-28_850-27insGGGCGGGACAGG	ENSP00000412542.2:n.850-28_850-27insGGGCGGGACAGG
NM_000487.5:c.1108-28_1108-27insGGGCGGGACAGG	NP_000478.3:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085425.2:c.1108-28_1108-27insGGGCGGGACAGG	NP_001078894.2:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085426.2:c.1108-28_1108-27insGGGCGGGACAGG	NP_001078895.2:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085427.2:c.1108-28_1108-27insGGGCGGGACAGG	NP_001078896.2:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085428.2:c.850-28_850-27insGGGCGGGACAGG	NP_001078897.1:n.850-28_850-27insGGGCGGGACAGG
XM_011530690.1:c.850-28_850-27insGGGCGGGACAGG	XP_011528992.1:n.850-28_850-27insGGGCGGGACAGG
XM_011530691.1:c.1107+227_1107+228insGGGCGGGACAGG	XP_011528993.1:n.1107+227_1107+228insGGGCGGGACAGG
NM_001362782.1:c.850-28_850-27insGGGCGGGACAGG	NP_001349711.1:n.850-28_850-27insGGGCGGGACAGG
XM_011530691.3:c.1107+227_1107+228insGGGCGGGACAGG	XP_011528993.1:n.1107+227_1107+228insGGGCGGGACAGG
XM_017028800.1:c.1108-28_1108-27insGGGCGGGACAGG	XP_016884289.1:n.1108-28_1108-27insGGGCGGGACAGG
XM_024452241.1:c.1107+227_1107+228insGGGCGGGACAGG	XP_024308009.1:n.1107+227_1107+228insGGGCGGGACAGG
NM_000487.6:c.1108-28_1108-27insGGGCGGGACAGG MANE Select	NP_000478.3:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085425.3:c.1108-28_1108-27insGGGCGGGACAGG	NP_001078894.2:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085426.3:c.1108-28_1108-27insGGGCGGGACAGG	NP_001078895.2:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085427.3:c.1108-28_1108-27insGGGCGGGACAGG	NP_001078896.2:n.1108-28_1108-27insGGGCGGGACAGG
NM_001085428.3:c.850-28_850-27insGGGCGGGACAGG	NP_001078897.1:n.850-28_850-27insGGGCGGGACAGG
NM_001362782.2:c.850-28_850-27insGGGCGGGACAGG	NP_001349711.1:n.850-28_850-27insGGGCGGGACAGG