Canonical Allele Identifier: CA2410957191

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623036_50623037delinsTG , CM000684.2:g.50623036_50623037delinsTG	GRCh38
NC_000022.10:g.51061464_51061465delinsTG , CM000684.1:g.51061464_51061465delinsTG	GRCh37
NC_000022.9:g.49408330_49408331delinsTG	NCBI36
NG_009260.2:g.10143_10144delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*2108_*2109delinsCA MANE Select	ENSP00000216124.5:n.*2108_*2109delinsCA
ENST00000608497.1:c.303-10_303-9delinsCA
ENST00000610191.1:n.290_291delinsCA
NM_000487.5:c.*2108_*2109delinsCA	NP_000478.3:n.*2108_*2109delinsCA
NM_001085425.2:c.*2108_*2109delinsCA	NP_001078894.2:n.*2108_*2109delinsCA
NM_001085426.2:c.*2108_*2109delinsCA	NP_001078895.2:n.*2108_*2109delinsCA
NM_001085427.2:c.*2108_*2109delinsCA	NP_001078896.2:n.*2108_*2109delinsCA
NM_001085428.2:c.*2108_*2109delinsCA	NP_001078897.1:n.*2108_*2109delinsCA
NM_001362782.1:c.*2108_*2109delinsCA	NP_001349711.1:n.*2108_*2109delinsCA
NM_000487.6:c.*2108_*2109delinsCA MANE Select	NP_000478.3:n.*2108_*2109delinsCA
NM_001085425.3:c.*2108_*2109delinsCA	NP_001078894.2:n.*2108_*2109delinsCA
NM_001085426.3:c.*2108_*2109delinsCA	NP_001078895.2:n.*2108_*2109delinsCA
NM_001085427.3:c.*2108_*2109delinsCA	NP_001078896.2:n.*2108_*2109delinsCA
NM_001085428.3:c.*2108_*2109delinsCA	NP_001078897.1:n.*2108_*2109delinsCA
NM_001362782.2:c.*2108_*2109delinsCA	NP_001349711.1:n.*2108_*2109delinsCA