Canonical Allele Identifier: CA2657590083

Gene: ARSA

Linked Data

• gnomAD v4: 22-50624947-C-CTCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624947_50624948insTCAA , CM000684.2:g.50624947_50624948insTCAA	GRCh38
NC_000022.10:g.51063375_51063376insTCAA , CM000684.1:g.51063375_51063376insTCAA	GRCh37
NC_000022.9:g.49410241_49410242insTCAA	NCBI36
NG_009260.2:g.8232_8233insTTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*197_*198insTTGA MANE Select	ENSP00000216124.5:n.*197_*198insTTGA
ENST00000608497.1:c.180+415_180+416insTTGA
NM_000487.5:c.*197_*198insTTGA	NP_000478.3:n.*197_*198insTTGA
NM_001085425.2:c.*197_*198insTTGA	NP_001078894.2:n.*197_*198insTTGA
NM_001085426.2:c.*197_*198insTTGA	NP_001078895.2:n.*197_*198insTTGA
NM_001085427.2:c.*197_*198insTTGA	NP_001078896.2:n.*197_*198insTTGA
NM_001085428.2:c.*197_*198insTTGA	NP_001078897.1:n.*197_*198insTTGA
NM_001362782.1:c.*197_*198insTTGA	NP_001349711.1:n.*197_*198insTTGA
NM_000487.6:c.*197_*198insTTGA MANE Select	NP_000478.3:n.*197_*198insTTGA
NM_001085425.3:c.*197_*198insTTGA	NP_001078894.2:n.*197_*198insTTGA
NM_001085426.3:c.*197_*198insTTGA	NP_001078895.2:n.*197_*198insTTGA
NM_001085427.3:c.*197_*198insTTGA	NP_001078896.2:n.*197_*198insTTGA
NM_001085428.3:c.*197_*198insTTGA	NP_001078897.1:n.*197_*198insTTGA
NM_001362782.2:c.*197_*198insTTGA	NP_001349711.1:n.*197_*198insTTGA