Canonical Allele Identifier: CA2551710545

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627739_50627740insTAGGGATGTTGTTT , CM000684.2:g.50627739_50627740insTAGGGATGTTGTTT	GRCh38
NC_000022.10:g.51066167_51066168insTAGGGATGTTGTTT , CM000684.1:g.51066167_51066168insTAGGGATGTTGTTT	GRCh37
NC_000022.9:g.49413033_49413034insTAGGGATGTTGTTT	NCBI36
NG_009260.2:g.5440_5441insAAACAACATCCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.40_41insAAACAACATCCCTA MANE Select	ENSP00000216124.5:p.Ala14GlufsTer19
ENST00000216124.9:c.40_41insAAACAACATCCCTA	ENSP00000216124.5:p.Ala14GlufsTer19
ENST00000356098.9:c.40_41insAAACAACATCCCTA	ENSP00000348406.5:p.Ala14GlufsTer19
ENST00000395619.3:c.40_41insAAACAACATCCCTA	ENSP00000378981.3:p.Ala14GlufsTer19
ENST00000395621.7:c.40_41insAAACAACATCCCTA	ENSP00000378983.3:p.Ala14GlufsTer19
ENST00000453344.6:c.-35+206_-35+207insAAACAACATCCCTA	ENSP00000412542.2:n.-35+206_-35+207insAAACAACATCCCTA
ENST00000551731.1:n.431_432insAAACAACATCCCTA
NM_000487.5:c.40_41insAAACAACATCCCTA	NP_000478.3:p.Ala14GlufsTer19
NM_001085425.2:c.40_41insAAACAACATCCCTA	NP_001078894.2:p.Ala14GlufsTer19
NM_001085426.2:c.40_41insAAACAACATCCCTA	NP_001078895.2:p.Ala14GlufsTer19
NM_001085427.2:c.40_41insAAACAACATCCCTA	NP_001078896.2:p.Ala14GlufsTer19
NM_001085428.2:c.-35+206_-35+207insAAACAACATCCCTA	NP_001078897.1:n.-35+206_-35+207insAAACAACATCCCTA
XM_011530690.1:c.-35+251_-35+252insAAACAACATCCCTA	XP_011528992.1:n.-35+251_-35+252insAAACAACATCCCTA
XM_011530691.1:c.40_41insAAACAACATCCCTA	XP_011528993.1:p.Ala14GlufsTer19
NM_001362782.1:c.-35+251_-35+252insAAACAACATCCCTA	NP_001349711.1:n.-35+251_-35+252insAAACAACATCCCTA
XM_011530691.3:c.40_41insAAACAACATCCCTA	XP_011528993.1:p.Ala14GlufsTer19
XM_017028800.1:c.40_41insAAACAACATCCCTA	XP_016884289.1:p.Ala14GlufsTer19
XM_024452241.1:c.40_41insAAACAACATCCCTA	XP_024308009.1:p.Ala14GlufsTer19
NM_000487.6:c.40_41insAAACAACATCCCTA MANE Select	NP_000478.3:p.Ala14GlufsTer19
NM_001085425.3:c.40_41insAAACAACATCCCTA	NP_001078894.2:p.Ala14GlufsTer19
NM_001085426.3:c.40_41insAAACAACATCCCTA	NP_001078895.2:p.Ala14GlufsTer19
NM_001085427.3:c.40_41insAAACAACATCCCTA	NP_001078896.2:p.Ala14GlufsTer19
NM_001085428.3:c.-35+206_-35+207insAAACAACATCCCTA	NP_001078897.1:n.-35+206_-35+207insAAACAACATCCCTA
NM_001362782.2:c.-35+251_-35+252insAAACAACATCCCTA	NP_001349711.1:n.-35+251_-35+252insAAACAACATCCCTA