Canonical Allele Identifier: CA2545548618

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627527_50627528insGCGTAAGT , CM000684.2:g.50627527_50627528insGCGTAAGT	GRCh38
NC_000022.10:g.51065955_51065956insGCGTAAGT , CM000684.1:g.51065955_51065956insGCGTAAGT	GRCh37
NC_000022.9:g.49412821_49412822insGCGTAAGT	NCBI36
NG_009260.2:g.5652_5653insACTTACGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.224+28_224+29insACTTACGC MANE Select	ENSP00000216124.5:n.224+28_224+29insACTTACGC
ENST00000216124.9:c.224+28_224+29insACTTACGC	ENSP00000216124.5:n.224+28_224+29insACTTACGC
ENST00000356098.9:c.224+28_224+29insACTTACGC	ENSP00000348406.5:n.224+28_224+29insACTTACGC
ENST00000395619.3:c.224+28_224+29insACTTACGC	ENSP00000378981.3:n.224+28_224+29insACTTACGC
ENST00000395621.7:c.224+28_224+29insACTTACGC	ENSP00000378983.3:n.224+28_224+29insACTTACGC
ENST00000453344.6:c.-34-122_-34-121insACTTACGC	ENSP00000412542.2:n.-34-122_-34-121insACTTACGC
ENST00000551731.1:n.615+28_615+29insACTTACGC
NM_000487.5:c.224+28_224+29insACTTACGC	NP_000478.3:n.224+28_224+29insACTTACGC
NM_001085425.2:c.224+28_224+29insACTTACGC	NP_001078894.2:n.224+28_224+29insACTTACGC
NM_001085426.2:c.224+28_224+29insACTTACGC	NP_001078895.2:n.224+28_224+29insACTTACGC
NM_001085427.2:c.224+28_224+29insACTTACGC	NP_001078896.2:n.224+28_224+29insACTTACGC
NM_001085428.2:c.-34-122_-34-121insACTTACGC	NP_001078897.1:n.-34-122_-34-121insACTTACGC
XM_011530690.1:c.-34-122_-34-121insACTTACGC	XP_011528992.1:n.-34-122_-34-121insACTTACGC
XM_011530691.1:c.224+28_224+29insACTTACGC	XP_011528993.1:n.224+28_224+29insACTTACGC
NM_001362782.1:c.-34-122_-34-121insACTTACGC	NP_001349711.1:n.-34-122_-34-121insACTTACGC
XM_011530691.3:c.224+28_224+29insACTTACGC	XP_011528993.1:n.224+28_224+29insACTTACGC
XM_017028800.1:c.224+28_224+29insACTTACGC	XP_016884289.1:n.224+28_224+29insACTTACGC
XM_024452241.1:c.224+28_224+29insACTTACGC	XP_024308009.1:n.224+28_224+29insACTTACGC
NM_000487.6:c.224+28_224+29insACTTACGC MANE Select	NP_000478.3:n.224+28_224+29insACTTACGC
NM_001085425.3:c.224+28_224+29insACTTACGC	NP_001078894.2:n.224+28_224+29insACTTACGC
NM_001085426.3:c.224+28_224+29insACTTACGC	NP_001078895.2:n.224+28_224+29insACTTACGC
NM_001085427.3:c.224+28_224+29insACTTACGC	NP_001078896.2:n.224+28_224+29insACTTACGC
NM_001085428.3:c.-34-122_-34-121insACTTACGC	NP_001078897.1:n.-34-122_-34-121insACTTACGC
NM_001362782.2:c.-34-122_-34-121insACTTACGC	NP_001349711.1:n.-34-122_-34-121insACTTACGC