Canonical Allele Identifier: CA2669482161
Gene: IDUA HGNC NCBI

Linked Data

gnomAD v4: 4-1002680-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002680_1002681insA , CM000666.2:g.1002680_1002681insA GRCh38
NC_000004.11:g.996468_996469insA , CM000666.1:g.996468_996469insA GRCh37
NC_000004.10:g.986468_986469insA NCBI36
NG_008103.1:g.20684_20685insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1190-52_1190-51insA ENSP00000247933.4:n.1190-52_1190-51insA
ENST00000514224.2:c.1190-52_1190-51insA MANE Select ENSP00000425081.2:n.1190-52_1190-51insA
ENST00000652070.1:n.1246-52_1246-51insA
ENST00000247933.8:c.1190-52_1190-51insA ENSP00000247933.4:n.1190-52_1190-51insA
ENST00000514224.1:c.794-52_794-51insA ENSP00000425081.1:n.794-52_794-51insA
ENST00000514698.5:n.1297-52_1297-51insA
NM_000203.4:c.1190-52_1190-51insA NP_000194.2:n.1190-52_1190-51insA
NR_110313.1:n.1278-52_1278-51insA
XM_006713882.2:c.794-52_794-51insA XP_006713945.1:n.794-52_794-51insA
XM_011513459.1:c.1256-52_1256-51insA XP_011511761.1:n.1256-52_1256-51insA
XM_011513460.1:c.1049-52_1049-51insA XP_011511762.1:n.1049-52_1049-51insA
XM_011513461.1:c.983-52_983-51insA XP_011511763.1:n.983-52_983-51insA
XM_011513462.1:c.902-52_902-51insA XP_011511764.1:n.902-52_902-51insA
XM_011513463.1:c.902-52_902-51insA XP_011511765.1:n.902-52_902-51insA
XR_924947.1:n.1259-52_1259-51insA
NM_000203.5:c.1190-52_1190-51insA MANE Select NP_000194.2:n.1190-52_1190-51insA
NM_001363576.1:c.794-52_794-51insA NP_001350505.1:n.794-52_794-51insA
XM_011513461.2:c.983-52_983-51insA XP_011511763.1:n.983-52_983-51insA
XM_017008163.1:c.230-52_230-51insA XP_016863652.1:n.230-52_230-51insA