Canonical Allele Identifier: CA2695231028

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626232_50626233delinsAT , CM000684.2:g.50626232_50626233delinsAT	GRCh38
NC_000022.10:g.51064660_51064661delinsAT , CM000684.1:g.51064660_51064661delinsAT	GRCh37
NC_000022.9:g.49411526_49411527delinsAT	NCBI36
NG_009260.2:g.6947_6948delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.900_901delinsAT MANE Select	ENSP00000216124.5:p.Arg301Trp
ENST00000216124.9:c.900_901delinsAT	ENSP00000216124.5:p.Arg301Trp
ENST00000356098.9:c.900_901delinsAT	ENSP00000348406.5:p.Arg301Trp
ENST00000395619.3:c.900_901delinsAT	ENSP00000378981.3:p.Arg301Trp
ENST00000395621.7:c.900_901delinsAT	ENSP00000378983.3:p.Arg301Trp
ENST00000453344.6:c.642_643delinsAT	ENSP00000412542.2:p.Arg215Trp
NM_000487.5:c.900_901delinsAT	NP_000478.3:p.Arg301Trp
NM_001085425.2:c.900_901delinsAT	NP_001078894.2:p.Arg301Trp
NM_001085426.2:c.900_901delinsAT	NP_001078895.2:p.Arg301Trp
NM_001085427.2:c.900_901delinsAT	NP_001078896.2:p.Arg301Trp
NM_001085428.2:c.642_643delinsAT	NP_001078897.1:p.Arg215Trp
XM_011530690.1:c.642_643delinsAT	XP_011528992.1:p.Arg215Trp
XM_011530691.1:c.900_901delinsAT	XP_011528993.1:p.Arg301Trp
NM_001362782.1:c.642_643delinsAT	NP_001349711.1:p.Arg215Trp
XM_011530691.3:c.900_901delinsAT	XP_011528993.1:p.Arg301Trp
XM_017028800.1:c.900_901delinsAT	XP_016884289.1:p.Arg301Trp
XM_024452241.1:c.900_901delinsAT	XP_024308009.1:p.Arg301Trp
NM_000487.6:c.900_901delinsAT MANE Select	NP_000478.3:p.Arg301Trp
NM_001085425.3:c.900_901delinsAT	NP_001078894.2:p.Arg301Trp
NM_001085426.3:c.900_901delinsAT	NP_001078895.2:p.Arg301Trp
NM_001085427.3:c.900_901delinsAT	NP_001078896.2:p.Arg301Trp
NM_001085428.3:c.642_643delinsAT	NP_001078897.1:p.Arg215Trp
NM_001362782.2:c.642_643delinsAT	NP_001349711.1:p.Arg215Trp