Canonical Allele Identifier: CA2580099965

Gene: ARSA

Linked Data

• ClinVar Variation Id: 2127865
• ClinVar RCV Id: RCV003055704

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626858_50626873dup , CM000684.2:g.50626858_50626873dup	GRCh38
NC_000022.10:g.51065286_51065301dup , CM000684.1:g.51065286_51065301dup	GRCh37
NC_000022.9:g.49412152_49412167dup	NCBI36
NG_009260.2:g.6307_6322dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.645_660dup MANE Select	ENSP00000216124.5:p.Phe221AlafsTer?
ENST00000216124.9:c.645_660dup	ENSP00000216124.5:p.Phe221AlafsTer?
ENST00000356098.9:c.645_660dup	ENSP00000348406.5:p.Phe221AlafsTer?
ENST00000395619.3:c.645_660dup	ENSP00000378981.3:p.Phe221AlafsTer?
ENST00000395621.7:c.645_660dup	ENSP00000378983.3:p.Phe221AlafsTer?
ENST00000453344.6:c.387_402dup	ENSP00000412542.2:p.Phe135AlafsTer?
ENST00000551731.1:n.1149_1164dup
NM_000487.5:c.645_660dup	NP_000478.3:p.Phe221AlafsTer?
NM_001085425.2:c.645_660dup	NP_001078894.2:p.Phe221AlafsTer?
NM_001085426.2:c.645_660dup	NP_001078895.2:p.Phe221AlafsTer?
NM_001085427.2:c.645_660dup	NP_001078896.2:p.Phe221AlafsTer?
NM_001085428.2:c.387_402dup	NP_001078897.1:p.Phe135AlafsTer?
XM_011530690.1:c.387_402dup	XP_011528992.1:p.Phe135AlafsTer?
XM_011530691.1:c.645_660dup	XP_011528993.1:p.Phe221AlafsTer?
NM_001362782.1:c.387_402dup	NP_001349711.1:p.Phe135AlafsTer?
XM_011530691.3:c.645_660dup	XP_011528993.1:p.Phe221AlafsTer?
XM_017028800.1:c.645_660dup	XP_016884289.1:p.Phe221AlafsTer?
XM_024452241.1:c.645_660dup	XP_024308009.1:p.Phe221AlafsTer?
NM_000487.6:c.645_660dup MANE Select	NP_000478.3:p.Phe221AlafsTer?
NM_001085425.3:c.645_660dup	NP_001078894.2:p.Phe221AlafsTer?
NM_001085426.3:c.645_660dup	NP_001078895.2:p.Phe221AlafsTer?
NM_001085427.3:c.645_660dup	NP_001078896.2:p.Phe221AlafsTer?
NM_001085428.3:c.387_402dup	NP_001078897.1:p.Phe135AlafsTer?
NM_001362782.2:c.387_402dup	NP_001349711.1:p.Phe135AlafsTer?