Canonical Allele Identifier: CA2669482294

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002713-G-GGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002713_1002714insGGGC , CM000666.2:g.1002713_1002714insGGGC	GRCh38
NC_000004.11:g.996501_996502insGGGC , CM000666.1:g.996501_996502insGGGC	GRCh37
NC_000004.10:g.986501_986502insGGGC	NCBI36
NG_008103.1:g.20717_20718insGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-19_1190-18insGGGC	ENSP00000247933.4:n.1190-19_1190-18insGGGC
ENST00000514224.2:c.1190-19_1190-18insGGGC MANE Select	ENSP00000425081.2:n.1190-19_1190-18insGGGC
ENST00000652070.1:n.1246-19_1246-18insGGGC
ENST00000247933.8:c.1190-19_1190-18insGGGC	ENSP00000247933.4:n.1190-19_1190-18insGGGC
ENST00000514224.1:c.794-19_794-18insGGGC	ENSP00000425081.1:n.794-19_794-18insGGGC
ENST00000514698.5:n.1297-19_1297-18insGGGC
NM_000203.4:c.1190-19_1190-18insGGGC	NP_000194.2:n.1190-19_1190-18insGGGC
NR_110313.1:n.1278-19_1278-18insGGGC
XM_006713882.2:c.794-19_794-18insGGGC	XP_006713945.1:n.794-19_794-18insGGGC
XM_011513459.1:c.1256-19_1256-18insGGGC	XP_011511761.1:n.1256-19_1256-18insGGGC
XM_011513460.1:c.1049-19_1049-18insGGGC	XP_011511762.1:n.1049-19_1049-18insGGGC
XM_011513461.1:c.983-19_983-18insGGGC	XP_011511763.1:n.983-19_983-18insGGGC
XM_011513462.1:c.902-19_902-18insGGGC	XP_011511764.1:n.902-19_902-18insGGGC
XM_011513463.1:c.902-19_902-18insGGGC	XP_011511765.1:n.902-19_902-18insGGGC
XR_924947.1:n.1259-19_1259-18insGGGC
NM_000203.5:c.1190-19_1190-18insGGGC MANE Select	NP_000194.2:n.1190-19_1190-18insGGGC
NM_001363576.1:c.794-19_794-18insGGGC	NP_001350505.1:n.794-19_794-18insGGGC
XM_011513461.2:c.983-19_983-18insGGGC	XP_011511763.1:n.983-19_983-18insGGGC
XM_017008163.1:c.230-19_230-18insGGGC	XP_016863652.1:n.230-19_230-18insGGGC