Canonical Allele Identifier: CA2669479957

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001881-G-GCGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001881_1001882insCGGGC , CM000666.2:g.1001881_1001882insCGGGC	GRCh38
NC_000004.11:g.995669_995670insCGGGC , CM000666.1:g.995669_995670insCGGGC	GRCh37
NC_000004.10:g.985669_985670insCGGGC	NCBI36
NG_008103.1:g.19885_19886insCGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.792_792+1insCGGGC	ENSP00000247933.4:n.792_792+1insCGGGC
ENST00000514224.2:c.792_792+1insCGGGC MANE Select	ENSP00000425081.2:n.792_792+1insCGGGC
ENST00000652070.1:n.848_848+1insCGGGC
ENST00000247933.8:c.792_792+1insCGGGC	ENSP00000247933.4:n.792_792+1insCGGGC
ENST00000502910.5:c.651_651+1insCGGGC	ENSP00000422952.1:n.651_651+1insCGGGC
ENST00000514192.5:c.609_609+1insCGGGC	ENSP00000423685.1:n.609_609+1insCGGGC
ENST00000514224.1:c.396_396+1insCGGGC	ENSP00000425081.1:n.396_396+1insCGGGC
ENST00000514698.5:n.692_693insCGGGC
NM_000203.4:c.792_792+1insCGGGC	NP_000194.2:n.792_792+1insCGGGC
NR_110313.1:n.880_880+1insCGGGC
XM_006713882.2:c.396_396+1insCGGGC	XP_006713945.1:n.396_396+1insCGGGC
XM_011513459.1:c.651_652insCGGGC	XP_011511761.1:p.Val218ArgfsTer?
XM_011513460.1:c.651_651+1insCGGGC	XP_011511762.1:n.651_651+1insCGGGC
XM_011513461.1:c.585_585+1insCGGGC	XP_011511763.1:n.585_585+1insCGGGC
XM_011513462.1:c.504_504+1insCGGGC	XP_011511764.1:n.504_504+1insCGGGC
XM_011513463.1:c.504_504+1insCGGGC	XP_011511765.1:n.504_504+1insCGGGC
XR_924947.1:n.861_861+1insCGGGC
NM_000203.5:c.792_792+1insCGGGC MANE Select	NP_000194.2:n.792_792+1insCGGGC
NM_001363576.1:c.396_396+1insCGGGC	NP_001350505.1:n.396_396+1insCGGGC
XM_011513461.2:c.585_585+1insCGGGC	XP_011511763.1:n.585_585+1insCGGGC
XM_017008163.1:c.-169_-169+1insCGGGC	XP_016863652.1:n.-169_-169+1insCGGGC