Canonical Allele Identifier: CA1433069334

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002381_1002387delinsAGCGCAC , CM000666.2:g.1002381_1002387delinsAGCGCAC	GRCh38
NC_000004.11:g.996169_996175delinsAGCGCAC , CM000666.1:g.996169_996175delinsAGCGCAC	GRCh37
NC_000004.10:g.986169_986175delinsAGCGCAC	NCBI36
NG_008103.1:g.20385_20391delinsAGCGCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1085_1091delinsAGCGCAC	ENSP00000247933.4:p.Gln362=
ENST00000514224.2:c.1085_1091delinsAGCGCAC MANE Select	ENSP00000425081.2:p.Gln362=
ENST00000652070.1:n.1141_1147delinsAGCGCAC
ENST00000247933.8:c.1085_1091delinsAGCGCAC	ENSP00000247933.4:p.Gln362=
ENST00000514224.1:c.689_695delinsAGCGCAC	ENSP00000425081.1:p.Gln230=
ENST00000514698.5:n.1192_1198delinsAGCGCAC
NM_000203.4:c.1085_1091delinsAGCGCAC	NP_000194.2:p.Gln362=
NR_110313.1:n.1173_1179delinsAGCGCAC
XM_006713882.2:c.689_695delinsAGCGCAC	XP_006713945.1:p.Gln230=
XM_011513459.1:c.1151_1157delinsAGCGCAC	XP_011511761.1:p.Gln384=
XM_011513460.1:c.944_950delinsAGCGCAC	XP_011511762.1:p.Gln315=
XM_011513461.1:c.878_884delinsAGCGCAC	XP_011511763.1:p.Gln293=
XM_011513462.1:c.797_803delinsAGCGCAC	XP_011511764.1:p.Gln266=
XM_011513463.1:c.797_803delinsAGCGCAC	XP_011511765.1:p.Gln266=
XR_924947.1:n.1154_1160delinsAGCGCAC
NM_000203.5:c.1085_1091delinsAGCGCAC MANE Select	NP_000194.2:p.Gln362=
NM_001363576.1:c.689_695delinsAGCGCAC	NP_001350505.1:p.Gln230=
XM_011513461.2:c.878_884delinsAGCGCAC	XP_011511763.1:p.Gln293=
XM_017008163.1:c.125_131delinsAGCGCAC	XP_016863652.1:p.Gln42=