Canonical Allele Identifier: CA2669482383

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002716-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002716_1002717insT , CM000666.2:g.1002716_1002717insT	GRCh38
NC_000004.11:g.996504_996505insT , CM000666.1:g.996504_996505insT	GRCh37
NC_000004.10:g.986504_986505insT	NCBI36
NG_008103.1:g.20720_20721insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-16_1190-15insT	ENSP00000247933.4:n.1190-16_1190-15insT
ENST00000514224.2:c.1190-16_1190-15insT MANE Select	ENSP00000425081.2:n.1190-16_1190-15insT
ENST00000652070.1:n.1246-16_1246-15insT
ENST00000247933.8:c.1190-16_1190-15insT	ENSP00000247933.4:n.1190-16_1190-15insT
ENST00000514224.1:c.794-16_794-15insT	ENSP00000425081.1:n.794-16_794-15insT
ENST00000514698.5:n.1297-16_1297-15insT
NM_000203.4:c.1190-16_1190-15insT	NP_000194.2:n.1190-16_1190-15insT
NR_110313.1:n.1278-16_1278-15insT
XM_006713882.2:c.794-16_794-15insT	XP_006713945.1:n.794-16_794-15insT
XM_011513459.1:c.1256-16_1256-15insT	XP_011511761.1:n.1256-16_1256-15insT
XM_011513460.1:c.1049-16_1049-15insT	XP_011511762.1:n.1049-16_1049-15insT
XM_011513461.1:c.983-16_983-15insT	XP_011511763.1:n.983-16_983-15insT
XM_011513462.1:c.902-16_902-15insT	XP_011511764.1:n.902-16_902-15insT
XM_011513463.1:c.902-16_902-15insT	XP_011511765.1:n.902-16_902-15insT
XR_924947.1:n.1259-16_1259-15insT
NM_000203.5:c.1190-16_1190-15insT MANE Select	NP_000194.2:n.1190-16_1190-15insT
NM_001363576.1:c.794-16_794-15insT	NP_001350505.1:n.794-16_794-15insT
XM_011513461.2:c.983-16_983-15insT	XP_011511763.1:n.983-16_983-15insT
XM_017008163.1:c.230-16_230-15insT	XP_016863652.1:n.230-16_230-15insT