Canonical Allele Identifier: CA1433068135

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001859_1001860delinsAC , CM000666.2:g.1001859_1001860delinsAC	GRCh38
NC_000004.11:g.995647_995648delinsAC , CM000666.1:g.995647_995648delinsAC	GRCh37
NC_000004.10:g.985647_985648delinsAC	NCBI36
NG_008103.1:g.19863_19864delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.770_771delinsAC	ENSP00000247933.4:p.Asp257=
ENST00000514224.2:c.770_771delinsAC MANE Select	ENSP00000425081.2:p.Asp257=
ENST00000652070.1:n.826_827delinsAC
ENST00000247933.8:c.770_771delinsAC	ENSP00000247933.4:p.Asp257=
ENST00000502910.5:c.629_630delinsAC	ENSP00000422952.1:p.Asp210=
ENST00000514192.5:c.587_588delinsAC	ENSP00000423685.1:p.Asp196=
ENST00000514224.1:c.374_375delinsAC	ENSP00000425081.1:p.Asp125=
ENST00000514698.5:n.670_671delinsAC
NM_000203.4:c.770_771delinsAC	NP_000194.2:p.Asp257=
NR_110313.1:n.858_859delinsAC
XM_006713882.2:c.374_375delinsAC	XP_006713945.1:p.Asp125=
XM_011513459.1:c.629_630delinsAC	XP_011511761.1:p.Asp210=
XM_011513460.1:c.629_630delinsAC	XP_011511762.1:p.Asp210=
XM_011513461.1:c.563_564delinsAC	XP_011511763.1:p.Asp188=
XM_011513462.1:c.482_483delinsAC	XP_011511764.1:p.Asp161=
XM_011513463.1:c.482_483delinsAC	XP_011511765.1:p.Asp161=
XR_924947.1:n.839_840delinsAC
NM_000203.5:c.770_771delinsAC MANE Select	NP_000194.2:p.Asp257=
NM_001363576.1:c.374_375delinsAC	NP_001350505.1:p.Asp125=
XM_011513461.2:c.563_564delinsAC	XP_011511763.1:p.Asp188=
XM_017008163.1:c.-191_-190delinsAC	XP_016863652.1:n.-191_-190delinsAC