Canonical Allele Identifier: CA1026679608

Gene: ARSA

Linked Data

• gnomAD v3: 22-50624728-T-TTCCCCC
• gnomAD v4: 22-50624728-T-TTCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624728_50624729insTCCCCC , CM000684.2:g.50624728_50624729insTCCCCC	GRCh38
NC_000022.10:g.51063156_51063157insTCCCCC , CM000684.1:g.51063156_51063157insTCCCCC	GRCh37
NC_000022.9:g.49410022_49410023insTCCCCC	NCBI36
NG_009260.2:g.8451_8452insGGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*416_*417insGGGGGA MANE Select	ENSP00000216124.5:n.*416_*417insGGGGGA
ENST00000608497.1:c.180+634_180+635insGGGGGA
NM_000487.5:c.*416_*417insGGGGGA	NP_000478.3:n.*416_*417insGGGGGA
NM_001085425.2:c.*416_*417insGGGGGA	NP_001078894.2:n.*416_*417insGGGGGA
NM_001085426.2:c.*416_*417insGGGGGA	NP_001078895.2:n.*416_*417insGGGGGA
NM_001085427.2:c.*416_*417insGGGGGA	NP_001078896.2:n.*416_*417insGGGGGA
NM_001085428.2:c.*416_*417insGGGGGA	NP_001078897.1:n.*416_*417insGGGGGA
NM_001362782.1:c.*416_*417insGGGGGA	NP_001349711.1:n.*416_*417insGGGGGA
NM_000487.6:c.*416_*417insGGGGGA MANE Select	NP_000478.3:n.*416_*417insGGGGGA
NM_001085425.3:c.*416_*417insGGGGGA	NP_001078894.2:n.*416_*417insGGGGGA
NM_001085426.3:c.*416_*417insGGGGGA	NP_001078895.2:n.*416_*417insGGGGGA
NM_001085427.3:c.*416_*417insGGGGGA	NP_001078896.2:n.*416_*417insGGGGGA
NM_001085428.3:c.*416_*417insGGGGGA	NP_001078897.1:n.*416_*417insGGGGGA
NM_001362782.2:c.*416_*417insGGGGGA	NP_001349711.1:n.*416_*417insGGGGGA