Canonical Allele Identifier: CA2669482426

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2906130
• ClinVar RCV Id: RCV003756423
• gnomAD v4: 4-1002720-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002720_1002721insG , CM000666.2:g.1002720_1002721insG	GRCh38
NC_000004.11:g.996508_996509insG , CM000666.1:g.996508_996509insG	GRCh37
NC_000004.10:g.986508_986509insG	NCBI36
NG_008103.1:g.20724_20725insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-12_1190-11insG	ENSP00000247933.4:n.1190-12_1190-11insG
ENST00000514224.2:c.1190-12_1190-11insG MANE Select	ENSP00000425081.2:n.1190-12_1190-11insG
ENST00000652070.1:n.1246-12_1246-11insG
ENST00000247933.8:c.1190-12_1190-11insG	ENSP00000247933.4:n.1190-12_1190-11insG
ENST00000514224.1:c.794-12_794-11insG	ENSP00000425081.1:n.794-12_794-11insG
ENST00000514698.5:n.1297-12_1297-11insG
NM_000203.4:c.1190-12_1190-11insG	NP_000194.2:n.1190-12_1190-11insG
NR_110313.1:n.1278-12_1278-11insG
XM_006713882.2:c.794-12_794-11insG	XP_006713945.1:n.794-12_794-11insG
XM_011513459.1:c.1256-12_1256-11insG	XP_011511761.1:n.1256-12_1256-11insG
XM_011513460.1:c.1049-12_1049-11insG	XP_011511762.1:n.1049-12_1049-11insG
XM_011513461.1:c.983-12_983-11insG	XP_011511763.1:n.983-12_983-11insG
XM_011513462.1:c.902-12_902-11insG	XP_011511764.1:n.902-12_902-11insG
XM_011513463.1:c.902-12_902-11insG	XP_011511765.1:n.902-12_902-11insG
XR_924947.1:n.1259-12_1259-11insG
NM_000203.5:c.1190-12_1190-11insG MANE Select	NP_000194.2:n.1190-12_1190-11insG
NM_001363576.1:c.794-12_794-11insG	NP_001350505.1:n.794-12_794-11insG
XM_011513461.2:c.983-12_983-11insG	XP_011511763.1:n.983-12_983-11insG
XM_017008163.1:c.230-12_230-11insG	XP_016863652.1:n.230-12_230-11insG