Canonical Allele Identifier: CA438057772
Community Standard Title: NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
Gene: IDUA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002341_1002343del , CM000666.2:g.1002341_1002343del GRCh38
NC_000004.11:g.996129_996131del , CM000666.1:g.996129_996131del GRCh37
NC_000004.10:g.986129_986131del NCBI36
NG_008103.1:g.20345_20347del

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1045_1047del MANE Select NP_000194.2:p.Asp349del
ENST00000514224.2:c.1045_1047del MANE Select ENSP00000425081.2:p.Asp349del
NM_000203.4:c.1045_1047del NP_000194.2:p.Asp349del
NM_001363576.1:c.649_651del NP_001350505.1:p.Asp217del
NR_110313.1:n.1133_1135del
ENST00000247933.8:c.1045_1047del ENSP00000247933.4:p.Asp349del
ENST00000247933.9:c.1045_1047del ENSP00000247933.4:p.Asp349del
ENST00000514224.1:c.649_651del ENSP00000425081.1:p.Asp217del
ENST00000514698.5:n.1152_1154del
ENST00000652070.1:n.1101_1103del
XM_006713882.2:c.649_651del XP_006713945.1:p.Asp217del
XM_011513459.1:c.1111_1113del XP_011511761.1:p.Asp371del
XM_011513460.1:c.904_906del XP_011511762.1:p.Asp302del
XM_011513461.1:c.838_840del XP_011511763.1:p.Asp280del
XM_011513461.2:c.838_840del XP_011511763.1:p.Asp280del
XM_011513462.1:c.757_759del XP_011511764.1:p.Asp253del
XM_011513463.1:c.757_759del XP_011511765.1:p.Asp253del
XM_017008163.1:c.85_87del XP_016863652.1:p.Asp29del
XR_924947.1:n.1114_1116del
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