Canonical Allele Identifier: CA2669482405

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002718-CCCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002725_1002729del , CM000666.2:g.1002725_1002729del	GRCh38
NC_000004.11:g.996513_996517del , CM000666.1:g.996513_996517del	GRCh37
NC_000004.10:g.986513_986517del	NCBI36
NG_008103.1:g.20729_20733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-7_1190-3del	ENSP00000247933.4:n.1190-7_1190-3del
ENST00000514224.2:c.1190-7_1190-3del MANE Select	ENSP00000425081.2:n.1190-7_1190-3del
ENST00000652070.1:n.1246-7_1246-3del
ENST00000247933.8:c.1190-7_1190-3del	ENSP00000247933.4:n.1190-7_1190-3del
ENST00000514224.1:c.794-7_794-3del	ENSP00000425081.1:n.794-7_794-3del
ENST00000514698.5:n.1297-7_1297-3del
NM_000203.4:c.1190-7_1190-3del	NP_000194.2:n.1190-7_1190-3del
NR_110313.1:n.1278-7_1278-3del
XM_006713882.2:c.794-7_794-3del	XP_006713945.1:n.794-7_794-3del
XM_011513459.1:c.1256-7_1256-3del	XP_011511761.1:n.1256-7_1256-3del
XM_011513460.1:c.1049-7_1049-3del	XP_011511762.1:n.1049-7_1049-3del
XM_011513461.1:c.983-7_983-3del	XP_011511763.1:n.983-7_983-3del
XM_011513462.1:c.902-7_902-3del	XP_011511764.1:n.902-7_902-3del
XM_011513463.1:c.902-7_902-3del	XP_011511765.1:n.902-7_902-3del
XR_924947.1:n.1259-7_1259-3del
NM_000203.5:c.1190-7_1190-3del MANE Select	NP_000194.2:n.1190-7_1190-3del
NM_001363576.1:c.794-7_794-3del	NP_001350505.1:n.794-7_794-3del
XM_011513461.2:c.983-7_983-3del	XP_011511763.1:n.983-7_983-3del
XM_017008163.1:c.230-7_230-3del	XP_016863652.1:n.230-7_230-3del