Canonical Allele Identifier: CA2410958616

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625695_50625697delinsCAG , CM000684.2:g.50625695_50625697delinsCAG	GRCh38
NC_000022.10:g.51064123_51064125delinsCAG , CM000684.1:g.51064123_51064125delinsCAG	GRCh37
NC_000022.9:g.49410989_49410991delinsCAG	NCBI36
NG_009260.2:g.7483_7485delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1108-16_1108-14delinsCTG MANE Select	ENSP00000216124.5:n.1108-16_1108-14delins...
ENST00000216124.9:c.1108-16_1108-14delinsCTG	ENSP00000216124.5:n.1108-16_1108-14delins...
ENST00000356098.9:c.1108-16_1108-14delinsCTG	ENSP00000348406.5:n.1108-16_1108-14delins...
ENST00000395619.3:c.1108-16_1108-14delinsCTG	ENSP00000378981.3:n.1108-16_1108-14delins...
ENST00000395621.7:c.1108-16_1108-14delinsCTG	ENSP00000378983.3:n.1108-16_1108-14delins...
ENST00000453344.6:c.850-16_850-14delinsCTG	ENSP00000412542.2:n.850-16_850-14delinsCT...
NM_000487.5:c.1108-16_1108-14delinsCTG	NP_000478.3:n.1108-16_1108-14delinsCTG
NM_001085425.2:c.1108-16_1108-14delinsCTG	NP_001078894.2:n.1108-16_1108-14delinsCTG...
NM_001085426.2:c.1108-16_1108-14delinsCTG	NP_001078895.2:n.1108-16_1108-14delinsCTG...
NM_001085427.2:c.1108-16_1108-14delinsCTG	NP_001078896.2:n.1108-16_1108-14delinsCTG...
NM_001085428.2:c.850-16_850-14delinsCTG	NP_001078897.1:n.850-16_850-14delinsCTG
XM_011530690.1:c.850-16_850-14delinsCTG	XP_011528992.1:n.850-16_850-14delinsCTG
XM_011530691.1:c.1108-233_1108-231delinsCTG	XP_011528993.1:n.1108-233_1108-231delinsC...
NM_001362782.1:c.850-16_850-14delinsCTG	NP_001349711.1:n.850-16_850-14delinsCTG
XM_011530691.3:c.1108-233_1108-231delinsCTG	XP_011528993.1:n.1108-233_1108-231delinsC...
XM_017028800.1:c.1108-16_1108-14delinsCTG	XP_016884289.1:n.1108-16_1108-14delinsCTG...
XM_024452241.1:c.1108-233_1108-231delinsCTG	XP_024308009.1:n.1108-233_1108-231delinsC...
NM_000487.6:c.1108-16_1108-14delinsCTG MANE Select	NP_000478.3:n.1108-16_1108-14delinsCTG
NM_001085425.3:c.1108-16_1108-14delinsCTG	NP_001078894.2:n.1108-16_1108-14delinsCTG...
NM_001085426.3:c.1108-16_1108-14delinsCTG	NP_001078895.2:n.1108-16_1108-14delinsCTG...
NM_001085427.3:c.1108-16_1108-14delinsCTG	NP_001078896.2:n.1108-16_1108-14delinsCTG...
NM_001085428.3:c.850-16_850-14delinsCTG	NP_001078897.1:n.850-16_850-14delinsCTG
NM_001362782.2:c.850-16_850-14delinsCTG	NP_001349711.1:n.850-16_850-14delinsCTG