Canonical Allele Identifier: CA2410958023

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624515_50624516delinsCA , CM000684.2:g.50624515_50624516delinsCA	GRCh38
NC_000022.10:g.51062943_51062944delinsCA , CM000684.1:g.51062943_51062944delinsCA	GRCh37
NC_000022.9:g.49409809_49409810delinsCA	NCBI36
NG_009260.2:g.8664_8665delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*629_*630delinsTG MANE Select	ENSP00000216124.5:n.*629_*630delinsTG
ENST00000608497.1:c.181-621_181-620delinsTG
NM_000487.5:c.*629_*630delinsTG	NP_000478.3:n.*629_*630delinsTG
NM_001085425.2:c.*629_*630delinsTG	NP_001078894.2:n.*629_*630delinsTG
NM_001085426.2:c.*629_*630delinsTG	NP_001078895.2:n.*629_*630delinsTG
NM_001085427.2:c.*629_*630delinsTG	NP_001078896.2:n.*629_*630delinsTG
NM_001085428.2:c.*629_*630delinsTG	NP_001078897.1:n.*629_*630delinsTG
NM_001362782.1:c.*629_*630delinsTG	NP_001349711.1:n.*629_*630delinsTG
NM_000487.6:c.*629_*630delinsTG MANE Select	NP_000478.3:n.*629_*630delinsTG
NM_001085425.3:c.*629_*630delinsTG	NP_001078894.2:n.*629_*630delinsTG
NM_001085426.3:c.*629_*630delinsTG	NP_001078895.2:n.*629_*630delinsTG
NM_001085427.3:c.*629_*630delinsTG	NP_001078896.2:n.*629_*630delinsTG
NM_001085428.3:c.*629_*630delinsTG	NP_001078897.1:n.*629_*630delinsTG
NM_001362782.2:c.*629_*630delinsTG	NP_001349711.1:n.*629_*630delinsTG