Canonical Allele Identifier: CA2410958758

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625959_50625961delinsGGC , CM000684.2:g.50625959_50625961delinsGGC	GRCh38
NC_000022.10:g.51064387_51064389delinsGGC , CM000684.1:g.51064387_51064389delinsGGC	GRCh37
NC_000022.9:g.49411253_49411255delinsGGC	NCBI36
NG_009260.2:g.7219_7221delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1082_1084delinsGCC MANE Select	ENSP00000216124.5:p.Ser361=
ENST00000216124.9:c.1082_1084delinsGCC	ENSP00000216124.5:p.Ser361=
ENST00000356098.9:c.1082_1084delinsGCC	ENSP00000348406.5:p.Ser361=
ENST00000395619.3:c.1082_1084delinsGCC	ENSP00000378981.3:p.Ser361=
ENST00000395621.7:c.1082_1084delinsGCC	ENSP00000378983.3:p.Ser361=
ENST00000453344.6:c.824_826delinsGCC	ENSP00000412542.2:p.Ser275=
NM_000487.5:c.1082_1084delinsGCC	NP_000478.3:p.Ser361=
NM_001085425.2:c.1082_1084delinsGCC	NP_001078894.2:p.Ser361=
NM_001085426.2:c.1082_1084delinsGCC	NP_001078895.2:p.Ser361=
NM_001085427.2:c.1082_1084delinsGCC	NP_001078896.2:p.Ser361=
NM_001085428.2:c.824_826delinsGCC	NP_001078897.1:p.Ser275=
XM_011530690.1:c.824_826delinsGCC	XP_011528992.1:p.Ser275=
XM_011530691.1:c.1082_1084delinsGCC	XP_011528993.1:p.Ser361=
NM_001362782.1:c.824_826delinsGCC	NP_001349711.1:p.Ser275=
XM_011530691.3:c.1082_1084delinsGCC	XP_011528993.1:p.Ser361=
XM_017028800.1:c.1082_1084delinsGCC	XP_016884289.1:p.Ser361=
XM_024452241.1:c.1082_1084delinsGCC	XP_024308009.1:p.Ser361=
NM_000487.6:c.1082_1084delinsGCC MANE Select	NP_000478.3:p.Ser361=
NM_001085425.3:c.1082_1084delinsGCC	NP_001078894.2:p.Ser361=
NM_001085426.3:c.1082_1084delinsGCC	NP_001078895.2:p.Ser361=
NM_001085427.3:c.1082_1084delinsGCC	NP_001078896.2:p.Ser361=
NM_001085428.3:c.824_826delinsGCC	NP_001078897.1:p.Ser275=
NM_001362782.2:c.824_826delinsGCC	NP_001349711.1:p.Ser275=