Canonical Allele Identifier: CA2410958343

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625163_50625164delinsGC , CM000684.2:g.50625163_50625164delinsGC	GRCh38
NC_000022.10:g.51063591_51063592delinsGC , CM000684.1:g.51063591_51063592delinsGC	GRCh37
NC_000022.9:g.49410457_49410458delinsGC	NCBI36
NG_009260.2:g.8016_8017delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1511_1512delinsGC MANE Select	ENSP00000216124.5:p.Cys504=
ENST00000216124.9:c.1511_1512delinsGC	ENSP00000216124.5:p.Cys504=
ENST00000356098.9:c.1511_1512delinsGC	ENSP00000348406.5:p.Cys504=
ENST00000395619.3:c.1511_1512delinsGC	ENSP00000378981.3:p.Cys504=
ENST00000395621.7:c.1511_1512delinsGC	ENSP00000378983.3:p.Cys504=
ENST00000453344.6:c.1253_1254delinsGC	ENSP00000412542.2:p.Cys418=
ENST00000608497.1:c.180+199_180+200delinsGC
NM_000487.5:c.1511_1512delinsGC	NP_000478.3:p.Cys504=
NM_001085425.2:c.1511_1512delinsGC	NP_001078894.2:p.Cys504=
NM_001085426.2:c.1511_1512delinsGC	NP_001078895.2:p.Cys504=
NM_001085427.2:c.1511_1512delinsGC	NP_001078896.2:p.Cys504=
NM_001085428.2:c.1253_1254delinsGC	NP_001078897.1:p.Cys418=
XM_011530690.1:c.1253_1254delinsGC	XP_011528992.1:p.Cys418=
XM_011530691.1:c.*244_*245delinsGC	XP_011528993.1:n.*244_*245delinsGC
NM_001362782.1:c.1253_1254delinsGC	NP_001349711.1:p.Cys418=
XM_011530691.3:c.*244_*245delinsGC	XP_011528993.1:n.*244_*245delinsGC
XM_017028800.1:c.1625_1626delinsGC	XP_016884289.1:p.Cys542=
XM_024452241.1:c.*244_*245delinsGC	XP_024308009.1:n.*244_*245delinsGC
NM_000487.6:c.1511_1512delinsGC MANE Select	NP_000478.3:p.Cys504=
NM_001085425.3:c.1511_1512delinsGC	NP_001078894.2:p.Cys504=
NM_001085426.3:c.1511_1512delinsGC	NP_001078895.2:p.Cys504=
NM_001085427.3:c.1511_1512delinsGC	NP_001078896.2:p.Cys504=
NM_001085428.3:c.1253_1254delinsGC	NP_001078897.1:p.Cys418=
NM_001362782.2:c.1253_1254delinsGC	NP_001349711.1:p.Cys418=