Canonical Allele Identifier: CA2738231174

Gene: ARSA

Linked Data

• dbSNP Id: rs2146718755

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625887_50625888insCTT , CM000684.2:g.50625887_50625888insCTT	GRCh38
NC_000022.10:g.51064315_51064316insCTT , CM000684.1:g.51064315_51064316insCTT	GRCh37
NC_000022.9:g.49411181_49411182insCTT	NCBI36
NG_009260.2:g.7292_7293insAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1107+48_1107+49insAAG MANE Select	ENSP00000216124.5:n.1107+48_1107+49insAAG
ENST00000216124.9:c.1107+48_1107+49insAAG	ENSP00000216124.5:n.1107+48_1107+49insAAG
ENST00000356098.9:c.1107+48_1107+49insAAG	ENSP00000348406.5:n.1107+48_1107+49insAAG
ENST00000395619.3:c.1107+48_1107+49insAAG	ENSP00000378981.3:n.1107+48_1107+49insAAG
ENST00000395621.7:c.1107+48_1107+49insAAG	ENSP00000378983.3:n.1107+48_1107+49insAAG
ENST00000453344.6:c.849+48_849+49insAAG	ENSP00000412542.2:n.849+48_849+49insAAG
NM_000487.5:c.1107+48_1107+49insAAG	NP_000478.3:n.1107+48_1107+49insAAG
NM_001085425.2:c.1107+48_1107+49insAAG	NP_001078894.2:n.1107+48_1107+49insAAG
NM_001085426.2:c.1107+48_1107+49insAAG	NP_001078895.2:n.1107+48_1107+49insAAG
NM_001085427.2:c.1107+48_1107+49insAAG	NP_001078896.2:n.1107+48_1107+49insAAG
NM_001085428.2:c.849+48_849+49insAAG	NP_001078897.1:n.849+48_849+49insAAG
XM_011530690.1:c.849+48_849+49insAAG	XP_011528992.1:n.849+48_849+49insAAG
XM_011530691.1:c.1107+48_1107+49insAAG	XP_011528993.1:n.1107+48_1107+49insAAG
NM_001362782.1:c.849+48_849+49insAAG	NP_001349711.1:n.849+48_849+49insAAG
XM_011530691.3:c.1107+48_1107+49insAAG	XP_011528993.1:n.1107+48_1107+49insAAG
XM_017028800.1:c.1107+48_1107+49insAAG	XP_016884289.1:n.1107+48_1107+49insAAG
XM_024452241.1:c.1107+48_1107+49insAAG	XP_024308009.1:n.1107+48_1107+49insAAG
NM_000487.6:c.1107+48_1107+49insAAG MANE Select	NP_000478.3:n.1107+48_1107+49insAAG
NM_001085425.3:c.1107+48_1107+49insAAG	NP_001078894.2:n.1107+48_1107+49insAAG
NM_001085426.3:c.1107+48_1107+49insAAG	NP_001078895.2:n.1107+48_1107+49insAAG
NM_001085427.3:c.1107+48_1107+49insAAG	NP_001078896.2:n.1107+48_1107+49insAAG
NM_001085428.3:c.849+48_849+49insAAG	NP_001078897.1:n.849+48_849+49insAAG
NM_001362782.2:c.849+48_849+49insAAG	NP_001349711.1:n.849+48_849+49insAAG