Canonical Allele Identifier: CA2669482253

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002711-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002712_1002713dup , CM000666.2:g.1002712_1002713dup	GRCh38
NC_000004.11:g.996500_996501dup , CM000666.1:g.996500_996501dup	GRCh37
NC_000004.10:g.986500_986501dup	NCBI36
NG_008103.1:g.20716_20717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-20_1190-19dup	ENSP00000247933.4:n.1190-20_1190-19dup
ENST00000514224.2:c.1190-20_1190-19dup MANE Select	ENSP00000425081.2:n.1190-20_1190-19dup
ENST00000652070.1:n.1246-20_1246-19dup
ENST00000247933.8:c.1190-20_1190-19dup	ENSP00000247933.4:n.1190-20_1190-19dup
ENST00000514224.1:c.794-20_794-19dup	ENSP00000425081.1:n.794-20_794-19dup
ENST00000514698.5:n.1297-20_1297-19dup
NM_000203.4:c.1190-20_1190-19dup	NP_000194.2:n.1190-20_1190-19dup
NR_110313.1:n.1278-20_1278-19dup
XM_006713882.2:c.794-20_794-19dup	XP_006713945.1:n.794-20_794-19dup
XM_011513459.1:c.1256-20_1256-19dup	XP_011511761.1:n.1256-20_1256-19dup
XM_011513460.1:c.1049-20_1049-19dup	XP_011511762.1:n.1049-20_1049-19dup
XM_011513461.1:c.983-20_983-19dup	XP_011511763.1:n.983-20_983-19dup
XM_011513462.1:c.902-20_902-19dup	XP_011511764.1:n.902-20_902-19dup
XM_011513463.1:c.902-20_902-19dup	XP_011511765.1:n.902-20_902-19dup
XR_924947.1:n.1259-20_1259-19dup
NM_000203.5:c.1190-20_1190-19dup MANE Select	NP_000194.2:n.1190-20_1190-19dup
NM_001363576.1:c.794-20_794-19dup	NP_001350505.1:n.794-20_794-19dup
XM_011513461.2:c.983-20_983-19dup	XP_011511763.1:n.983-20_983-19dup
XM_017008163.1:c.230-20_230-19dup	XP_016863652.1:n.230-20_230-19dup