Canonical Allele Identifier: CA2669482428

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002721-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002721_1002722insGT , CM000666.2:g.1002721_1002722insGT	GRCh38
NC_000004.11:g.996509_996510insGT , CM000666.1:g.996509_996510insGT	GRCh37
NC_000004.10:g.986509_986510insGT	NCBI36
NG_008103.1:g.20725_20726insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-11_1190-10insGT	ENSP00000247933.4:n.1190-11_1190-10insGT
ENST00000514224.2:c.1190-11_1190-10insGT MANE Select	ENSP00000425081.2:n.1190-11_1190-10insGT
ENST00000652070.1:n.1246-11_1246-10insGT
ENST00000247933.8:c.1190-11_1190-10insGT	ENSP00000247933.4:n.1190-11_1190-10insGT
ENST00000514224.1:c.794-11_794-10insGT	ENSP00000425081.1:n.794-11_794-10insGT
ENST00000514698.5:n.1297-11_1297-10insGT
NM_000203.4:c.1190-11_1190-10insGT	NP_000194.2:n.1190-11_1190-10insGT
NR_110313.1:n.1278-11_1278-10insGT
XM_006713882.2:c.794-11_794-10insGT	XP_006713945.1:n.794-11_794-10insGT
XM_011513459.1:c.1256-11_1256-10insGT	XP_011511761.1:n.1256-11_1256-10insGT
XM_011513460.1:c.1049-11_1049-10insGT	XP_011511762.1:n.1049-11_1049-10insGT
XM_011513461.1:c.983-11_983-10insGT	XP_011511763.1:n.983-11_983-10insGT
XM_011513462.1:c.902-11_902-10insGT	XP_011511764.1:n.902-11_902-10insGT
XM_011513463.1:c.902-11_902-10insGT	XP_011511765.1:n.902-11_902-10insGT
XR_924947.1:n.1259-11_1259-10insGT
NM_000203.5:c.1190-11_1190-10insGT MANE Select	NP_000194.2:n.1190-11_1190-10insGT
NM_001363576.1:c.794-11_794-10insGT	NP_001350505.1:n.794-11_794-10insGT
XM_011513461.2:c.983-11_983-10insGT	XP_011511763.1:n.983-11_983-10insGT
XM_017008163.1:c.230-11_230-10insGT	XP_016863652.1:n.230-11_230-10insGT