Canonical Allele Identifier: CA2657589172

Gene: ARSA

Linked Data

• gnomAD v4: 22-50623707-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623708_50623710del , CM000684.2:g.50623708_50623710del	GRCh38
NC_000022.10:g.51062136_51062138del , CM000684.1:g.51062136_51062138del	GRCh37
NC_000022.9:g.49409002_49409004del	NCBI36
NG_009260.2:g.9470_9472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1435_*1437del MANE Select	ENSP00000216124.5:n.*1435_*1437del
ENST00000608497.1:c.302+64_302+66del
NM_000487.5:c.*1435_*1437del	NP_000478.3:n.*1435_*1437del
NM_001085425.2:c.*1435_*1437del	NP_001078894.2:n.*1435_*1437del
NM_001085426.2:c.*1435_*1437del	NP_001078895.2:n.*1435_*1437del
NM_001085427.2:c.*1435_*1437del	NP_001078896.2:n.*1435_*1437del
NM_001085428.2:c.*1435_*1437del	NP_001078897.1:n.*1435_*1437del
NM_001362782.1:c.*1435_*1437del	NP_001349711.1:n.*1435_*1437del
NM_000487.6:c.*1435_*1437del MANE Select	NP_000478.3:n.*1435_*1437del
NM_001085425.3:c.*1435_*1437del	NP_001078894.2:n.*1435_*1437del
NM_001085426.3:c.*1435_*1437del	NP_001078895.2:n.*1435_*1437del
NM_001085427.3:c.*1435_*1437del	NP_001078896.2:n.*1435_*1437del
NM_001085428.3:c.*1435_*1437del	NP_001078897.1:n.*1435_*1437del
NM_001362782.2:c.*1435_*1437del	NP_001349711.1:n.*1435_*1437del