Canonical Allele Identifier: CA1433067447

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001543_1001544delinsAC , CM000666.2:g.1001543_1001544delinsAC	GRCh38
NC_000004.11:g.995331_995332delinsAC , CM000666.1:g.995331_995332delinsAC	GRCh37
NC_000004.10:g.985331_985332delinsAC	NCBI36
NG_008103.1:g.19547_19548delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.569_570delinsAC	ENSP00000247933.4:p.Asn190=
ENST00000514224.2:c.569_570delinsAC MANE Select	ENSP00000425081.2:p.Asn190=
ENST00000652070.1:n.625_626delinsAC
ENST00000247933.8:c.569_570delinsAC	ENSP00000247933.4:p.Asn190=
ENST00000502910.5:c.428_429delinsAC	ENSP00000422952.1:p.Asn143=
ENST00000504568.5:c.529_530delinsAC
ENST00000509948.5:c.362_363delinsAC	ENSP00000424227.1:p.Asn121=
ENST00000514192.5:c.386_387delinsAC	ENSP00000423685.1:p.Asn129=
ENST00000514224.1:c.173_174delinsAC	ENSP00000425081.1:p.Asn58=
ENST00000514698.5:n.469_470delinsAC
NM_000203.4:c.569_570delinsAC	NP_000194.2:p.Asn190=
NR_110313.1:n.657_658delinsAC
XM_006713882.2:c.173_174delinsAC	XP_006713945.1:p.Asn58=
XM_011513459.1:c.428_429delinsAC	XP_011511761.1:p.Asn143=
XM_011513460.1:c.428_429delinsAC	XP_011511762.1:p.Asn143=
XM_011513461.1:c.362_363delinsAC	XP_011511763.1:p.Asn121=
XM_011513462.1:c.281_282delinsAC	XP_011511764.1:p.Asn94=
XM_011513463.1:c.281_282delinsAC	XP_011511765.1:p.Asn94=
XR_924947.1:n.638_639delinsAC
NM_000203.5:c.569_570delinsAC MANE Select	NP_000194.2:p.Asn190=
NM_001363576.1:c.173_174delinsAC	NP_001350505.1:p.Asn58=
XM_011513461.2:c.362_363delinsAC	XP_011511763.1:p.Asn121=
XM_017008163.1:c.-420_-419delinsAC	XP_016863652.1:n.-420_-419delinsAC