Canonical Allele Identifier: CA920392326

Gene: ARSA

Linked Data

• dbSNP Id: rs1603444866

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625408_50625411del , CM000684.2:g.50625408_50625411del	GRCh38
NC_000022.10:g.51063836_51063839del , CM000684.1:g.51063836_51063839del	GRCh37
NC_000022.9:g.49410702_49410705del	NCBI36
NG_009260.2:g.7772_7775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1267_1270del MANE Select	ENSP00000216124.5:p.Thr423LeufsTer?
ENST00000216124.9:c.1267_1270del	ENSP00000216124.5:p.Thr423LeufsTer?
ENST00000356098.9:c.1267_1270del	ENSP00000348406.5:p.Thr423LeufsTer?
ENST00000395619.3:c.1267_1270del	ENSP00000378981.3:p.Thr423LeufsTer?
ENST00000395621.7:c.1267_1270del	ENSP00000378983.3:p.Thr423LeufsTer?
ENST00000453344.6:c.1009_1012del	ENSP00000412542.2:p.Thr337LeufsTer?
ENST00000608497.1:c.135_138del
NM_000487.5:c.1267_1270del	NP_000478.3:p.Thr423LeufsTer?
NM_001085425.2:c.1267_1270del	NP_001078894.2:p.Thr423LeufsTer?
NM_001085426.2:c.1267_1270del	NP_001078895.2:p.Thr423LeufsTer?
NM_001085427.2:c.1267_1270del	NP_001078896.2:p.Thr423LeufsTer?
NM_001085428.2:c.1009_1012del	NP_001078897.1:p.Thr337LeufsTer?
XM_011530690.1:c.1009_1012del	XP_011528992.1:p.Thr337LeufsTer?
XM_011530691.1:c.1164_*3del	XP_011528993.1:n.[c.1164_*3del;Ter388CysextTer3]
NM_001362782.1:c.1009_1012del	NP_001349711.1:p.Thr337LeufsTer?
XM_011530691.3:c.1164_*3del	XP_011528993.1:n.[c.1164_*3del;Ter388CysextTer3]
XM_017028800.1:c.1381_1384del	XP_016884289.1:p.Thr461LeufsTer?
XM_024452241.1:c.1164_*3del	XP_024308009.1:n.[c.1164_*3del;Ter388CysextTer3]
NM_000487.6:c.1267_1270del MANE Select	NP_000478.3:p.Thr423LeufsTer?
NM_001085425.3:c.1267_1270del	NP_001078894.2:p.Thr423LeufsTer?
NM_001085426.3:c.1267_1270del	NP_001078895.2:p.Thr423LeufsTer?
NM_001085427.3:c.1267_1270del	NP_001078896.2:p.Thr423LeufsTer?
NM_001085428.3:c.1009_1012del	NP_001078897.1:p.Thr337LeufsTer?
NM_001362782.2:c.1009_1012del	NP_001349711.1:p.Thr337LeufsTer?