Canonical Allele Identifier: CA2410958265

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625026_50625027delinsTC , CM000684.2:g.50625026_50625027delinsTC	GRCh38
NC_000022.10:g.51063454_51063455delinsTC , CM000684.1:g.51063454_51063455delinsTC	GRCh37
NC_000022.9:g.49410320_49410321delinsTC	NCBI36
NG_009260.2:g.8153_8154delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*118_*119delinsGA MANE Select	ENSP00000216124.5:n.*118_*119delinsGA
ENST00000216124.9:c.*118_*119delinsGA	ENSP00000216124.5:n.*118_*119delinsGA
ENST00000356098.9:c.*118_*119delinsGA	ENSP00000348406.5:n.*118_*119delinsGA
ENST00000608497.1:c.180+336_180+337delinsGA
NM_000487.5:c.*118_*119delinsGA	NP_000478.3:n.*118_*119delinsGA
NM_001085425.2:c.*118_*119delinsGA	NP_001078894.2:n.*118_*119delinsGA
NM_001085426.2:c.*118_*119delinsGA	NP_001078895.2:n.*118_*119delinsGA
NM_001085427.2:c.*118_*119delinsGA	NP_001078896.2:n.*118_*119delinsGA
NM_001085428.2:c.*118_*119delinsGA	NP_001078897.1:n.*118_*119delinsGA
XM_011530690.1:c.*118_*119delinsGA	XP_011528992.1:n.*118_*119delinsGA
XM_011530691.1:c.*381_*382delinsGA	XP_011528993.1:n.*381_*382delinsGA
NM_001362782.1:c.*118_*119delinsGA	NP_001349711.1:n.*118_*119delinsGA
XM_011530691.3:c.*381_*382delinsGA	XP_011528993.1:n.*381_*382delinsGA
XM_017028800.1:c.*118_*119delinsGA	XP_016884289.1:n.*118_*119delinsGA
XM_024452241.1:c.*381_*382delinsGA	XP_024308009.1:n.*381_*382delinsGA
NM_000487.6:c.*118_*119delinsGA MANE Select	NP_000478.3:n.*118_*119delinsGA
NM_001085425.3:c.*118_*119delinsGA	NP_001078894.2:n.*118_*119delinsGA
NM_001085426.3:c.*118_*119delinsGA	NP_001078895.2:n.*118_*119delinsGA
NM_001085427.3:c.*118_*119delinsGA	NP_001078896.2:n.*118_*119delinsGA
NM_001085428.3:c.*118_*119delinsGA	NP_001078897.1:n.*118_*119delinsGA
NM_001362782.2:c.*118_*119delinsGA	NP_001349711.1:n.*118_*119delinsGA