Canonical Allele Identifier: CA2410958130

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624744_50624747delinsCGTT , CM000684.2:g.50624744_50624747delinsCGTT	GRCh38
NC_000022.10:g.51063172_51063175delinsCGTT , CM000684.1:g.51063172_51063175delinsCGTT	GRCh37
NC_000022.9:g.49410038_49410041delinsCGTT	NCBI36
NG_009260.2:g.8433_8436delinsAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*398_*401delinsAACG MANE Select	ENSP00000216124.5:n.*398_*401delinsAACG
ENST00000608497.1:c.180+616_180+619delinsAACG
NM_000487.5:c.*398_*401delinsAACG	NP_000478.3:n.*398_*401delinsAACG
NM_001085425.2:c.*398_*401delinsAACG	NP_001078894.2:n.*398_*401delinsAACG
NM_001085426.2:c.*398_*401delinsAACG	NP_001078895.2:n.*398_*401delinsAACG
NM_001085427.2:c.*398_*401delinsAACG	NP_001078896.2:n.*398_*401delinsAACG
NM_001085428.2:c.*398_*401delinsAACG	NP_001078897.1:n.*398_*401delinsAACG
NM_001362782.1:c.*398_*401delinsAACG	NP_001349711.1:n.*398_*401delinsAACG
NM_000487.6:c.*398_*401delinsAACG MANE Select	NP_000478.3:n.*398_*401delinsAACG
NM_001085425.3:c.*398_*401delinsAACG	NP_001078894.2:n.*398_*401delinsAACG
NM_001085426.3:c.*398_*401delinsAACG	NP_001078895.2:n.*398_*401delinsAACG
NM_001085427.3:c.*398_*401delinsAACG	NP_001078896.2:n.*398_*401delinsAACG
NM_001085428.3:c.*398_*401delinsAACG	NP_001078897.1:n.*398_*401delinsAACG
NM_001362782.2:c.*398_*401delinsAACG	NP_001349711.1:n.*398_*401delinsAACG