Canonical Allele Identifier: CA1026679874

Gene: ARSA

Linked Data

• gnomAD v3: 22-50624746-T-TC
• gnomAD v4: 22-50624746-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624746_50624747insC , CM000684.2:g.50624746_50624747insC	GRCh38
NC_000022.10:g.51063174_51063175insC , CM000684.1:g.51063174_51063175insC	GRCh37
NC_000022.9:g.49410040_49410041insC	NCBI36
NG_009260.2:g.8433_8434insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*398_*399insG MANE Select	ENSP00000216124.5:n.*398_*399insG
ENST00000608497.1:c.180+616_180+617insG
NM_000487.5:c.*398_*399insG	NP_000478.3:n.*398_*399insG
NM_001085425.2:c.*398_*399insG	NP_001078894.2:n.*398_*399insG
NM_001085426.2:c.*398_*399insG	NP_001078895.2:n.*398_*399insG
NM_001085427.2:c.*398_*399insG	NP_001078896.2:n.*398_*399insG
NM_001085428.2:c.*398_*399insG	NP_001078897.1:n.*398_*399insG
NM_001362782.1:c.*398_*399insG	NP_001349711.1:n.*398_*399insG
NM_000487.6:c.*398_*399insG MANE Select	NP_000478.3:n.*398_*399insG
NM_001085425.3:c.*398_*399insG	NP_001078894.2:n.*398_*399insG
NM_001085426.3:c.*398_*399insG	NP_001078895.2:n.*398_*399insG
NM_001085427.3:c.*398_*399insG	NP_001078896.2:n.*398_*399insG
NM_001085428.3:c.*398_*399insG	NP_001078897.1:n.*398_*399insG
NM_001362782.2:c.*398_*399insG	NP_001349711.1:n.*398_*399insG