Canonical Allele Identifier: CA1026680566

Gene: ARSA

Linked Data

• dbSNP Id: rs2082658330
• gnomAD v3: 22-50625969-AAAGC-A
• gnomAD v4: 22-50625969-AAAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625970_50625973del , CM000684.2:g.50625970_50625973del	GRCh38
NC_000022.10:g.51064398_51064401del , CM000684.1:g.51064398_51064401del	GRCh37
NC_000022.9:g.49411264_49411267del	NCBI36
NG_009260.2:g.7207_7210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1070_1073del MANE Select	ENSP00000216124.5:p.Gly357ValfsTer?
ENST00000216124.9:c.1070_1073del	ENSP00000216124.5:p.Gly357ValfsTer?
ENST00000356098.9:c.1070_1073del	ENSP00000348406.5:p.Gly357ValfsTer?
ENST00000395619.3:c.1070_1073del	ENSP00000378981.3:p.Gly357ValfsTer?
ENST00000395621.7:c.1070_1073del	ENSP00000378983.3:p.Gly357ValfsTer?
ENST00000453344.6:c.812_815del	ENSP00000412542.2:p.Gly271ValfsTer?
NM_000487.5:c.1070_1073del	NP_000478.3:p.Gly357ValfsTer?
NM_001085425.2:c.1070_1073del	NP_001078894.2:p.Gly357ValfsTer?
NM_001085426.2:c.1070_1073del	NP_001078895.2:p.Gly357ValfsTer?
NM_001085427.2:c.1070_1073del	NP_001078896.2:p.Gly357ValfsTer?
NM_001085428.2:c.812_815del	NP_001078897.1:p.Gly271ValfsTer?
XM_011530690.1:c.812_815del	XP_011528992.1:p.Gly271ValfsTer?
XM_011530691.1:c.1070_1073del	XP_011528993.1:p.Gly357ValfsTer17
NM_001362782.1:c.812_815del	NP_001349711.1:p.Gly271ValfsTer?
XM_011530691.3:c.1070_1073del	XP_011528993.1:p.Gly357ValfsTer17
XM_017028800.1:c.1070_1073del	XP_016884289.1:p.Gly357ValfsTer?
XM_024452241.1:c.1070_1073del	XP_024308009.1:p.Gly357ValfsTer17
NM_000487.6:c.1070_1073del MANE Select	NP_000478.3:p.Gly357ValfsTer?
NM_001085425.3:c.1070_1073del	NP_001078894.2:p.Gly357ValfsTer?
NM_001085426.3:c.1070_1073del	NP_001078895.2:p.Gly357ValfsTer?
NM_001085427.3:c.1070_1073del	NP_001078896.2:p.Gly357ValfsTer?
NM_001085428.3:c.812_815del	NP_001078897.1:p.Gly271ValfsTer?
NM_001362782.2:c.812_815del	NP_001349711.1:p.Gly271ValfsTer?