Canonical Allele Identifier: CA2410959103

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626525_50626578delinsACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCC , CM000684.2:g.50626525_50626578delinsACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCC	GRCh38
NC_000022.10:g.51064953_51065006delinsACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCC , CM000684.1:g.51064953_51065006delinsACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCC	GRCh37
NC_000022.9:g.49411819_49411872delinsACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCC	NCBI36
NG_009260.2:g.6602_6655delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT MANE Select	ENSP00000216124.5:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCT...
ENST00000216124.9:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	ENSP00000216124.5:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCT...
ENST00000356098.9:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	ENSP00000348406.5:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCT...
ENST00000395619.3:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	ENSP00000378981.3:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCT...
ENST00000395621.7:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	ENSP00000378983.3:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCT...
ENST00000453344.6:c.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	ENSP00000412542.2:n.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCT...
NM_000487.5:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_000478.3:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACG...
NM_001085425.2:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078894.2:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001085426.2:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078895.2:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001085427.2:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078896.2:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001085428.2:c.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078897.1:n.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
XM_011530690.1:c.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	XP_011528992.1:n.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
XM_011530691.1:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	XP_011528993.1:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001362782.1:c.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001349711.1:n.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
XM_011530691.3:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	XP_011528993.1:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
XM_017028800.1:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	XP_016884289.1:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
XM_024452241.1:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	XP_024308009.1:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_000487.6:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT MANE Select	NP_000478.3:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACG...
NM_001085425.3:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078894.2:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001085426.3:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078895.2:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001085427.3:c.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078896.2:n.854+13_854+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001085428.3:c.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001078897.1:n.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...
NM_001362782.2:c.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTCACGGGCCAGGGCCCTGGAGGCCTTGCAGT	NP_001349711.1:n.596+13_596+66delinsGGCAGCTGGGTGCTCCGGCCCTGTC...