Canonical Allele Identifier: CA2669482250

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002711-C-CGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002713_1002714insGGGG , CM000666.2:g.1002713_1002714insGGGG	GRCh38
NC_000004.11:g.996501_996502insGGGG , CM000666.1:g.996501_996502insGGGG	GRCh37
NC_000004.10:g.986501_986502insGGGG	NCBI36
NG_008103.1:g.20717_20718insGGGG

Transcript Alleles

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