Canonical Allele Identifier: CA2410958764
Gene: ARSA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625965_50625967delinsGGT , CM000684.2:g.50625965_50625967delinsGGT GRCh38
NC_000022.10:g.51064393_51064395delinsGGT , CM000684.1:g.51064393_51064395delinsGGT GRCh37
NC_000022.9:g.49411259_49411261delinsGGT NCBI36
NG_009260.2:g.7213_7215delinsACC

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1076_1078delinsACC MANE Select ENSP00000216124.5:p.Asp359=
ENST00000216124.9:c.1076_1078delinsACC ENSP00000216124.5:p.Asp359=
ENST00000356098.9:c.1076_1078delinsACC ENSP00000348406.5:p.Asp359=
ENST00000395619.3:c.1076_1078delinsACC ENSP00000378981.3:p.Asp359=
ENST00000395621.7:c.1076_1078delinsACC ENSP00000378983.3:p.Asp359=
ENST00000453344.6:c.818_820delinsACC ENSP00000412542.2:p.Asp273=
NM_000487.5:c.1076_1078delinsACC NP_000478.3:p.Asp359=
NM_001085425.2:c.1076_1078delinsACC NP_001078894.2:p.Asp359=
NM_001085426.2:c.1076_1078delinsACC NP_001078895.2:p.Asp359=
NM_001085427.2:c.1076_1078delinsACC NP_001078896.2:p.Asp359=
NM_001085428.2:c.818_820delinsACC NP_001078897.1:p.Asp273=
XM_011530690.1:c.818_820delinsACC XP_011528992.1:p.Asp273=
XM_011530691.1:c.1076_1078delinsACC XP_011528993.1:p.Asp359=
NM_001362782.1:c.818_820delinsACC NP_001349711.1:p.Asp273=
XM_011530691.3:c.1076_1078delinsACC XP_011528993.1:p.Asp359=
XM_017028800.1:c.1076_1078delinsACC XP_016884289.1:p.Asp359=
XM_024452241.1:c.1076_1078delinsACC XP_024308009.1:p.Asp359=
NM_000487.6:c.1076_1078delinsACC MANE Select NP_000478.3:p.Asp359=
NM_001085425.3:c.1076_1078delinsACC NP_001078894.2:p.Asp359=
NM_001085426.3:c.1076_1078delinsACC NP_001078895.2:p.Asp359=
NM_001085427.3:c.1076_1078delinsACC NP_001078896.2:p.Asp359=
NM_001085428.3:c.818_820delinsACC NP_001078897.1:p.Asp273=
NM_001362782.2:c.818_820delinsACC NP_001349711.1:p.Asp273=