Canonical Allele Identifier: CA2410958515

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625501_50625503delinsCGA , CM000684.2:g.50625501_50625503delinsCGA	GRCh38
NC_000022.10:g.51063929_51063931delinsCGA , CM000684.1:g.51063929_51063931delinsCGA	GRCh37
NC_000022.9:g.49410795_49410797delinsCGA	NCBI36
NG_009260.2:g.7677_7679delinsTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1211-39_1211-37delinsTCG MANE Select	ENSP00000216124.5:n.1211-39_1211-37delinsTCG
ENST00000216124.9:c.1211-39_1211-37delinsTCG	ENSP00000216124.5:n.1211-39_1211-37delinsTCG
ENST00000356098.9:c.1211-39_1211-37delinsTCG	ENSP00000348406.5:n.1211-39_1211-37delinsTCG
ENST00000395619.3:c.1211-39_1211-37delinsTCG	ENSP00000378981.3:n.1211-39_1211-37delinsTCG
ENST00000395621.7:c.1211-39_1211-37delinsTCG	ENSP00000378983.3:n.1211-39_1211-37delinsTCG
ENST00000453344.6:c.953-39_953-37delinsTCG	ENSP00000412542.2:n.953-39_953-37delinsTCG
ENST00000608497.1:c.79-39_79-37delinsTCG
NM_000487.5:c.1211-39_1211-37delinsTCG	NP_000478.3:n.1211-39_1211-37delinsTCG
NM_001085425.2:c.1211-39_1211-37delinsTCG	NP_001078894.2:n.1211-39_1211-37delinsTCG
NM_001085426.2:c.1211-39_1211-37delinsTCG	NP_001078895.2:n.1211-39_1211-37delinsTCG
NM_001085427.2:c.1211-39_1211-37delinsTCG	NP_001078896.2:n.1211-39_1211-37delinsTCG
NM_001085428.2:c.953-39_953-37delinsTCG	NP_001078897.1:n.953-39_953-37delinsTCG
XM_011530690.1:c.953-39_953-37delinsTCG	XP_011528992.1:n.953-39_953-37delinsTCG
XM_011530691.1:c.1108-39_1108-37delinsTCG	XP_011528993.1:n.1108-39_1108-37delinsTCG
NM_001362782.1:c.953-39_953-37delinsTCG	NP_001349711.1:n.953-39_953-37delinsTCG
XM_011530691.3:c.1108-39_1108-37delinsTCG	XP_011528993.1:n.1108-39_1108-37delinsTCG
XM_017028800.1:c.1286_1288delinsTCG	XP_016884289.1:p.Leu429=
XM_024452241.1:c.1108-39_1108-37delinsTCG	XP_024308009.1:n.1108-39_1108-37delinsTCG
NM_000487.6:c.1211-39_1211-37delinsTCG MANE Select	NP_000478.3:n.1211-39_1211-37delinsTCG
NM_001085425.3:c.1211-39_1211-37delinsTCG	NP_001078894.2:n.1211-39_1211-37delinsTCG
NM_001085426.3:c.1211-39_1211-37delinsTCG	NP_001078895.2:n.1211-39_1211-37delinsTCG
NM_001085427.3:c.1211-39_1211-37delinsTCG	NP_001078896.2:n.1211-39_1211-37delinsTCG
NM_001085428.3:c.953-39_953-37delinsTCG	NP_001078897.1:n.953-39_953-37delinsTCG
NM_001362782.2:c.953-39_953-37delinsTCG	NP_001349711.1:n.953-39_953-37delinsTCG