Canonical Allele Identifier: CA2573332225
Community Standard Title: NM_000203.5(IDUA):c.1082del (p.Ala361GlyfsTer?)
Gene: IDUA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002378del , CM000666.2:g.1002378del GRCh38
NC_000004.11:g.996166del , CM000666.1:g.996166del GRCh37
NC_000004.10:g.986166del NCBI36
NG_008103.1:g.20382del

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1082del MANE Select NP_000194.2:p.Ala361GlyfsTer?
ENST00000514224.2:c.1082del MANE Select ENSP00000425081.2:p.Ala361GlyfsTer?
NM_000203.4:c.1082del NP_000194.2:p.Ala361GlyfsTer?
NM_001363576.1:c.686del NP_001350505.1:p.Ala229GlyfsTer?
NR_110313.1:n.1170del
ENST00000247933.8:c.1082del ENSP00000247933.4:p.Ala361GlyfsTer?
ENST00000247933.9:c.1082del ENSP00000247933.4:p.Ala361GlyfsTer?
ENST00000514224.1:c.686del ENSP00000425081.1:p.Ala229GlyfsTer?
ENST00000514698.5:n.1189del
ENST00000652070.1:n.1138del
XM_006713882.2:c.686del XP_006713945.1:p.Ala229GlyfsTer?
XM_011513459.1:c.1148del XP_011511761.1:p.Ala383GlyfsTer?
XM_011513460.1:c.941del XP_011511762.1:p.Ala314GlyfsTer?
XM_011513461.1:c.875del XP_011511763.1:p.Ala292GlyfsTer?
XM_011513461.2:c.875del XP_011511763.1:p.Ala292GlyfsTer?
XM_011513462.1:c.794del XP_011511764.1:p.Ala265GlyfsTer?
XM_011513463.1:c.794del XP_011511765.1:p.Ala265GlyfsTer?
XM_017008163.1:c.122del XP_016863652.1:p.Ala41GlyfsTer?
XR_924947.1:n.1151del
Search 100 bp 5'
Search 100 bp 3'