Canonical Allele Identifier: CA2819314736

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627334_50627335dup , CM000684.2:g.50627334_50627335dup	GRCh38
NC_000022.10:g.51065762_51065763dup , CM000684.1:g.51065762_51065763dup	GRCh37
NC_000022.9:g.49412628_49412629dup	NCBI36
NG_009260.2:g.5850_5851dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.301_302dup MANE Select	ENSP00000216124.5:p.Leu102AlafsTer7
ENST00000216124.9:c.301_302dup	ENSP00000216124.5:p.Leu102AlafsTer7
ENST00000356098.9:c.301_302dup	ENSP00000348406.5:p.Leu102AlafsTer7
ENST00000395619.3:c.301_302dup	ENSP00000378981.3:p.Leu102AlafsTer7
ENST00000395621.7:c.301_302dup	ENSP00000378983.3:p.Leu102AlafsTer7
ENST00000453344.6:c.43_44dup	ENSP00000412542.2:p.Leu16AlafsTer7
ENST00000551731.1:n.692_693dup
NM_000487.5:c.301_302dup	NP_000478.3:p.Leu102AlafsTer7
NM_001085425.2:c.301_302dup	NP_001078894.2:p.Leu102AlafsTer7
NM_001085426.2:c.301_302dup	NP_001078895.2:p.Leu102AlafsTer7
NM_001085427.2:c.301_302dup	NP_001078896.2:p.Leu102AlafsTer7
NM_001085428.2:c.43_44dup	NP_001078897.1:p.Leu16AlafsTer7
XM_011530690.1:c.43_44dup	XP_011528992.1:p.Leu16AlafsTer7
XM_011530691.1:c.301_302dup	XP_011528993.1:p.Leu102AlafsTer7
NM_001362782.1:c.43_44dup	NP_001349711.1:p.Leu16AlafsTer7
XM_011530691.3:c.301_302dup	XP_011528993.1:p.Leu102AlafsTer7
XM_017028800.1:c.301_302dup	XP_016884289.1:p.Leu102AlafsTer7
XM_024452241.1:c.301_302dup	XP_024308009.1:p.Leu102AlafsTer7
NM_000487.6:c.301_302dup MANE Select	NP_000478.3:p.Leu102AlafsTer7
NM_001085425.3:c.301_302dup	NP_001078894.2:p.Leu102AlafsTer7
NM_001085426.3:c.301_302dup	NP_001078895.2:p.Leu102AlafsTer7
NM_001085427.3:c.301_302dup	NP_001078896.2:p.Leu102AlafsTer7
NM_001085428.3:c.43_44dup	NP_001078897.1:p.Leu16AlafsTer7
NM_001362782.2:c.43_44dup	NP_001349711.1:p.Leu16AlafsTer7