Canonical Allele Identifier: CA2657592490

Gene: ARSA

Linked Data

• ClinVar Variation Id: 2843908
• ClinVar RCV Id: RCV003608213
• gnomAD v4: 22-50626225-CCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626226_50626302del , CM000684.2:g.50626226_50626302del	GRCh38
NC_000022.10:g.51064654_51064730del , CM000684.1:g.51064654_51064730del	GRCh37
NC_000022.9:g.49411520_49411596del	NCBI36
NG_009260.2:g.6878_6954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.855-24_907del
ENST00000216124.9:c.855-24_907del
ENST00000356098.9:c.855-24_907del
ENST00000395619.3:c.855-24_907del
ENST00000395621.7:c.855-24_907del
ENST00000453344.6:c.597-24_649del
NM_000487.5:c.855-24_907del
NM_001085425.2:c.855-24_907del
NM_001085426.2:c.855-24_907del
NM_001085427.2:c.855-24_907del
NM_001085428.2:c.597-24_649del
XM_011530690.1:c.597-24_649del
XM_011530691.1:c.855-24_907del
NM_001362782.1:c.597-24_649del
XM_011530691.3:c.855-24_907del
XM_017028800.1:c.855-24_907del
XM_024452241.1:c.855-24_907del
NM_000487.6:c.855-24_907del
NM_001085425.3:c.855-24_907del
NM_001085426.3:c.855-24_907del
NM_001085427.3:c.855-24_907del
NM_001085428.3:c.597-24_649del
NM_001362782.2:c.597-24_649del