Canonical Allele Identifier: CA1026679797

Gene: ARSA

Linked Data

• gnomAD v3: 22-50624738-CCA-C
• gnomAD v4: 22-50624738-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624740_50624741del , CM000684.2:g.50624740_50624741del	GRCh38
NC_000022.10:g.51063168_51063169del , CM000684.1:g.51063168_51063169del	GRCh37
NC_000022.9:g.49410034_49410035del	NCBI36
NG_009260.2:g.8440_8441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*405_*406del MANE Select	ENSP00000216124.5:n.*405_*406del
ENST00000608497.1:c.180+623_180+624del
NM_000487.5:c.*405_*406del	NP_000478.3:n.*405_*406del
NM_001085425.2:c.*405_*406del	NP_001078894.2:n.*405_*406del
NM_001085426.2:c.*405_*406del	NP_001078895.2:n.*405_*406del
NM_001085427.2:c.*405_*406del	NP_001078896.2:n.*405_*406del
NM_001085428.2:c.*405_*406del	NP_001078897.1:n.*405_*406del
NM_001362782.1:c.*405_*406del	NP_001349711.1:n.*405_*406del
NM_000487.6:c.*405_*406del MANE Select	NP_000478.3:n.*405_*406del
NM_001085425.3:c.*405_*406del	NP_001078894.2:n.*405_*406del
NM_001085426.3:c.*405_*406del	NP_001078895.2:n.*405_*406del
NM_001085427.3:c.*405_*406del	NP_001078896.2:n.*405_*406del
NM_001085428.3:c.*405_*406del	NP_001078897.1:n.*405_*406del
NM_001362782.2:c.*405_*406del	NP_001349711.1:n.*405_*406del