Canonical Allele Identifier: CA2410957255

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623158_50623160delinsCGT , CM000684.2:g.50623158_50623160delinsCGT	GRCh38
NC_000022.10:g.51061586_51061588delinsCGT , CM000684.1:g.51061586_51061588delinsCGT	GRCh37
NC_000022.9:g.49408452_49408454delinsCGT	NCBI36
NG_009260.2:g.10020_10022delinsACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1985_*1987delinsACG MANE Select	ENSP00000216124.5:n.*1985_*1987delinsACG
ENST00000608497.1:c.303-133_303-131delinsACG
ENST00000610191.1:n.167_169delinsACG
NM_000487.5:c.*1985_*1987delinsACG	NP_000478.3:n.*1985_*1987delinsACG
NM_001085425.2:c.*1985_*1987delinsACG	NP_001078894.2:n.*1985_*1987delinsACG
NM_001085426.2:c.*1985_*1987delinsACG	NP_001078895.2:n.*1985_*1987delinsACG
NM_001085427.2:c.*1985_*1987delinsACG	NP_001078896.2:n.*1985_*1987delinsACG
NM_001085428.2:c.*1985_*1987delinsACG	NP_001078897.1:n.*1985_*1987delinsACG
NM_001362782.1:c.*1985_*1987delinsACG	NP_001349711.1:n.*1985_*1987delinsACG
NM_000487.6:c.*1985_*1987delinsACG MANE Select	NP_000478.3:n.*1985_*1987delinsACG
NM_001085425.3:c.*1985_*1987delinsACG	NP_001078894.2:n.*1985_*1987delinsACG
NM_001085426.3:c.*1985_*1987delinsACG	NP_001078895.2:n.*1985_*1987delinsACG
NM_001085427.3:c.*1985_*1987delinsACG	NP_001078896.2:n.*1985_*1987delinsACG
NM_001085428.3:c.*1985_*1987delinsACG	NP_001078897.1:n.*1985_*1987delinsACG
NM_001362782.2:c.*1985_*1987delinsACG	NP_001349711.1:n.*1985_*1987delinsACG