Canonical Allele Identifier: CA1433068162

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001871_1001872delinsTC , CM000666.2:g.1001871_1001872delinsTC	GRCh38
NC_000004.11:g.995659_995660delinsTC , CM000666.1:g.995659_995660delinsTC	GRCh37
NC_000004.10:g.985659_985660delinsTC	NCBI36
NG_008103.1:g.19875_19876delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.782_783delinsTC	ENSP00000247933.4:p.Leu261=
ENST00000514224.2:c.782_783delinsTC MANE Select	ENSP00000425081.2:p.Leu261=
ENST00000652070.1:n.838_839delinsTC
ENST00000247933.8:c.782_783delinsTC	ENSP00000247933.4:p.Leu261=
ENST00000502910.5:c.641_642delinsTC	ENSP00000422952.1:p.Leu214=
ENST00000514192.5:c.599_600delinsTC	ENSP00000423685.1:p.Leu200=
ENST00000514224.1:c.386_387delinsTC	ENSP00000425081.1:p.Leu129=
ENST00000514698.5:n.682_683delinsTC
NM_000203.4:c.782_783delinsTC	NP_000194.2:p.Leu261=
NR_110313.1:n.870_871delinsTC
XM_006713882.2:c.386_387delinsTC	XP_006713945.1:p.Leu129=
XM_011513459.1:c.641_642delinsTC	XP_011511761.1:p.Leu214=
XM_011513460.1:c.641_642delinsTC	XP_011511762.1:p.Leu214=
XM_011513461.1:c.575_576delinsTC	XP_011511763.1:p.Leu192=
XM_011513462.1:c.494_495delinsTC	XP_011511764.1:p.Leu165=
XM_011513463.1:c.494_495delinsTC	XP_011511765.1:p.Leu165=
XR_924947.1:n.851_852delinsTC
NM_000203.5:c.782_783delinsTC MANE Select	NP_000194.2:p.Leu261=
NM_001363576.1:c.386_387delinsTC	NP_001350505.1:p.Leu129=
XM_011513461.2:c.575_576delinsTC	XP_011511763.1:p.Leu192=
XM_017008163.1:c.-179_-178delinsTC	XP_016863652.1:n.-179_-178delinsTC