Canonical Allele Identifier: CA754066061

Gene: ARSA

Linked Data

• dbSNP Id: rs1287247776
• MyVariant Identifiers: chr22:g.51061955_51061963del (hg19) ; chr22:g.50623527_50623535del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623528_50623536del , CM000684.2:g.50623528_50623536del	GRCh38
NC_000022.10:g.51061956_51061964del , CM000684.1:g.51061956_51061964del	GRCh37
NC_000022.9:g.49408822_49408830del	NCBI36
NG_009260.2:g.9645_9653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1610_*1618del MANE Select	ENSP00000216124.5:n.*1610_*1618del
ENST00000608497.1:c.302+239_302+247del
NM_000487.5:c.*1610_*1618del	NP_000478.3:n.*1610_*1618del
NM_001085425.2:c.*1610_*1618del	NP_001078894.2:n.*1610_*1618del
NM_001085426.2:c.*1610_*1618del	NP_001078895.2:n.*1610_*1618del
NM_001085427.2:c.*1610_*1618del	NP_001078896.2:n.*1610_*1618del
NM_001085428.2:c.*1610_*1618del	NP_001078897.1:n.*1610_*1618del
NM_001362782.1:c.*1610_*1618del	NP_001349711.1:n.*1610_*1618del
NM_000487.6:c.*1610_*1618del MANE Select	NP_000478.3:n.*1610_*1618del
NM_001085425.3:c.*1610_*1618del	NP_001078894.2:n.*1610_*1618del
NM_001085426.3:c.*1610_*1618del	NP_001078895.2:n.*1610_*1618del
NM_001085427.3:c.*1610_*1618del	NP_001078896.2:n.*1610_*1618del
NM_001085428.3:c.*1610_*1618del	NP_001078897.1:n.*1610_*1618del
NM_001362782.2:c.*1610_*1618del	NP_001349711.1:n.*1610_*1618del