Canonical Allele Identifier: CA2573137572

Gene: IDUA

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002463del , CM000666.2:g.1002463del	GRCh38
NC_000004.11:g.996251del , CM000666.1:g.996251del	GRCh37
NC_000004.10:g.986251del	NCBI36
NG_008103.1:g.20467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1167del	ENSP00000247933.4:p.Met390TrpfsTer?
ENST00000514224.2:c.1167del MANE Select	ENSP00000425081.2:p.Met390TrpfsTer?
ENST00000652070.1:n.1223del
ENST00000247933.8:c.1167del	ENSP00000247933.4:p.Met390TrpfsTer?
ENST00000514224.1:c.771del	ENSP00000425081.1:p.Met258TrpfsTer?
ENST00000514698.5:n.1274del
NM_000203.4:c.1167del	NP_000194.2:p.Met390TrpfsTer?
NR_110313.1:n.1255del
XM_006713882.2:c.771del	XP_006713945.1:p.Met258TrpfsTer?
XM_011513459.1:c.1233del	XP_011511761.1:p.Met412TrpfsTer?
XM_011513460.1:c.1026del	XP_011511762.1:p.Met343TrpfsTer?
XM_011513461.1:c.960del	XP_011511763.1:p.Met321TrpfsTer?
XM_011513462.1:c.879del	XP_011511764.1:p.Met294TrpfsTer?
XM_011513463.1:c.879del	XP_011511765.1:p.Met294TrpfsTer?
XR_924947.1:n.1236del
NM_000203.5:c.1167del MANE Select	NP_000194.2:p.Met390TrpfsTer?
NM_001363576.1:c.771del	NP_001350505.1:p.Met258TrpfsTer?
XM_011513461.2:c.960del	XP_011511763.1:p.Met321TrpfsTer?
XM_017008163.1:c.207del	XP_016863652.1:p.Met70TrpfsTer?