Canonical Allele Identifier: CA2410957805

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624093_50624095delinsCAG , CM000684.2:g.50624093_50624095delinsCAG	GRCh38
NC_000022.10:g.51062521_51062523delinsCAG , CM000684.1:g.51062521_51062523delinsCAG	GRCh37
NC_000022.9:g.49409387_49409389delinsCAG	NCBI36
NG_009260.2:g.9085_9087delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*1050_*1052delinsCTG MANE Select	ENSP00000216124.5:n.*1050_*1052delinsCTG
ENST00000608497.1:c.181-200_181-198delinsCTG
NM_000487.5:c.*1050_*1052delinsCTG	NP_000478.3:n.*1050_*1052delinsCTG
NM_001085425.2:c.*1050_*1052delinsCTG	NP_001078894.2:n.*1050_*1052delinsCTG
NM_001085426.2:c.*1050_*1052delinsCTG	NP_001078895.2:n.*1050_*1052delinsCTG
NM_001085427.2:c.*1050_*1052delinsCTG	NP_001078896.2:n.*1050_*1052delinsCTG
NM_001085428.2:c.*1050_*1052delinsCTG	NP_001078897.1:n.*1050_*1052delinsCTG
NM_001362782.1:c.*1050_*1052delinsCTG	NP_001349711.1:n.*1050_*1052delinsCTG
NM_000487.6:c.*1050_*1052delinsCTG MANE Select	NP_000478.3:n.*1050_*1052delinsCTG
NM_001085425.3:c.*1050_*1052delinsCTG	NP_001078894.2:n.*1050_*1052delinsCTG
NM_001085426.3:c.*1050_*1052delinsCTG	NP_001078895.2:n.*1050_*1052delinsCTG
NM_001085427.3:c.*1050_*1052delinsCTG	NP_001078896.2:n.*1050_*1052delinsCTG
NM_001085428.3:c.*1050_*1052delinsCTG	NP_001078897.1:n.*1050_*1052delinsCTG
NM_001362782.2:c.*1050_*1052delinsCTG	NP_001349711.1:n.*1050_*1052delinsCTG