Canonical Allele Identifier: CA2410958092

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624679_50624681delinsGTC , CM000684.2:g.50624679_50624681delinsGTC	GRCh38
NC_000022.10:g.51063107_51063109delinsGTC , CM000684.1:g.51063107_51063109delinsGTC	GRCh37
NC_000022.9:g.49409973_49409975delinsGTC	NCBI36
NG_009260.2:g.8499_8501delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*464_*466delinsGAC MANE Select	ENSP00000216124.5:n.*464_*466delinsGAC
ENST00000608497.1:c.180+682_180+684delinsGAC
NM_000487.5:c.*464_*466delinsGAC	NP_000478.3:n.*464_*466delinsGAC
NM_001085425.2:c.*464_*466delinsGAC	NP_001078894.2:n.*464_*466delinsGAC
NM_001085426.2:c.*464_*466delinsGAC	NP_001078895.2:n.*464_*466delinsGAC
NM_001085427.2:c.*464_*466delinsGAC	NP_001078896.2:n.*464_*466delinsGAC
NM_001085428.2:c.*464_*466delinsGAC	NP_001078897.1:n.*464_*466delinsGAC
NM_001362782.1:c.*464_*466delinsGAC	NP_001349711.1:n.*464_*466delinsGAC
NM_000487.6:c.*464_*466delinsGAC MANE Select	NP_000478.3:n.*464_*466delinsGAC
NM_001085425.3:c.*464_*466delinsGAC	NP_001078894.2:n.*464_*466delinsGAC
NM_001085426.3:c.*464_*466delinsGAC	NP_001078895.2:n.*464_*466delinsGAC
NM_001085427.3:c.*464_*466delinsGAC	NP_001078896.2:n.*464_*466delinsGAC
NM_001085428.3:c.*464_*466delinsGAC	NP_001078897.1:n.*464_*466delinsGAC
NM_001362782.2:c.*464_*466delinsGAC	NP_001349711.1:n.*464_*466delinsGAC