Canonical Allele Identifier: CA2669482367

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002715-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002715_1002716insG , CM000666.2:g.1002715_1002716insG	GRCh38
NC_000004.11:g.996503_996504insG , CM000666.1:g.996503_996504insG	GRCh37
NC_000004.10:g.986503_986504insG	NCBI36
NG_008103.1:g.20719_20720insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-17_1190-16insG	ENSP00000247933.4:n.1190-17_1190-16insG
ENST00000514224.2:c.1190-17_1190-16insG MANE Select	ENSP00000425081.2:n.1190-17_1190-16insG
ENST00000652070.1:n.1246-17_1246-16insG
ENST00000247933.8:c.1190-17_1190-16insG	ENSP00000247933.4:n.1190-17_1190-16insG
ENST00000514224.1:c.794-17_794-16insG	ENSP00000425081.1:n.794-17_794-16insG
ENST00000514698.5:n.1297-17_1297-16insG
NM_000203.4:c.1190-17_1190-16insG	NP_000194.2:n.1190-17_1190-16insG
NR_110313.1:n.1278-17_1278-16insG
XM_006713882.2:c.794-17_794-16insG	XP_006713945.1:n.794-17_794-16insG
XM_011513459.1:c.1256-17_1256-16insG	XP_011511761.1:n.1256-17_1256-16insG
XM_011513460.1:c.1049-17_1049-16insG	XP_011511762.1:n.1049-17_1049-16insG
XM_011513461.1:c.983-17_983-16insG	XP_011511763.1:n.983-17_983-16insG
XM_011513462.1:c.902-17_902-16insG	XP_011511764.1:n.902-17_902-16insG
XM_011513463.1:c.902-17_902-16insG	XP_011511765.1:n.902-17_902-16insG
XR_924947.1:n.1259-17_1259-16insG
NM_000203.5:c.1190-17_1190-16insG MANE Select	NP_000194.2:n.1190-17_1190-16insG
NM_001363576.1:c.794-17_794-16insG	NP_001350505.1:n.794-17_794-16insG
XM_011513461.2:c.983-17_983-16insG	XP_011511763.1:n.983-17_983-16insG
XM_017008163.1:c.230-17_230-16insG	XP_016863652.1:n.230-17_230-16insG