Canonical Allele Identifier: CA2410958349

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625182_50625185delinsCGGG , CM000684.2:g.50625182_50625185delinsCGGG	GRCh38
NC_000022.10:g.51063610_51063613delinsCGGG , CM000684.1:g.51063610_51063613delinsCGGG	GRCh37
NC_000022.9:g.49410476_49410479delinsCGGG	NCBI36
NG_009260.2:g.7995_7998delinsCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1490_1493delinsCCCG MANE Select	ENSP00000216124.5:p.Pro497=
ENST00000216124.9:c.1490_1493delinsCCCG	ENSP00000216124.5:p.Pro497=
ENST00000356098.9:c.1490_1493delinsCCCG	ENSP00000348406.5:p.Pro497=
ENST00000395619.3:c.1490_1493delinsCCCG	ENSP00000378981.3:p.Pro497=
ENST00000395621.7:c.1490_1493delinsCCCG	ENSP00000378983.3:p.Pro497=
ENST00000453344.6:c.1232_1235delinsCCCG	ENSP00000412542.2:p.Pro411=
ENST00000608497.1:c.180+178_180+181delinsCCCG
NM_000487.5:c.1490_1493delinsCCCG	NP_000478.3:p.Pro497=
NM_001085425.2:c.1490_1493delinsCCCG	NP_001078894.2:p.Pro497=
NM_001085426.2:c.1490_1493delinsCCCG	NP_001078895.2:p.Pro497=
NM_001085427.2:c.1490_1493delinsCCCG	NP_001078896.2:p.Pro497=
NM_001085428.2:c.1232_1235delinsCCCG	NP_001078897.1:p.Pro411=
XM_011530690.1:c.1232_1235delinsCCCG	XP_011528992.1:p.Pro411=
XM_011530691.1:c.*223_*226delinsCCCG	XP_011528993.1:n.*223_*226delinsCCCG
NM_001362782.1:c.1232_1235delinsCCCG	NP_001349711.1:p.Pro411=
XM_011530691.3:c.*223_*226delinsCCCG	XP_011528993.1:n.*223_*226delinsCCCG
XM_017028800.1:c.1604_1607delinsCCCG	XP_016884289.1:p.Pro535=
XM_024452241.1:c.*223_*226delinsCCCG	XP_024308009.1:n.*223_*226delinsCCCG
NM_000487.6:c.1490_1493delinsCCCG MANE Select	NP_000478.3:p.Pro497=
NM_001085425.3:c.1490_1493delinsCCCG	NP_001078894.2:p.Pro497=
NM_001085426.3:c.1490_1493delinsCCCG	NP_001078895.2:p.Pro497=
NM_001085427.3:c.1490_1493delinsCCCG	NP_001078896.2:p.Pro497=
NM_001085428.3:c.1232_1235delinsCCCG	NP_001078897.1:p.Pro411=
NM_001362782.2:c.1232_1235delinsCCCG	NP_001349711.1:p.Pro411=