Canonical Allele Identifier: CA2669482213

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002707-GCGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002708_1002711del , CM000666.2:g.1002708_1002711del	GRCh38
NC_000004.11:g.996496_996499del , CM000666.1:g.996496_996499del	GRCh37
NC_000004.10:g.986496_986499del	NCBI36
NG_008103.1:g.20712_20715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-24_1190-21del	ENSP00000247933.4:n.1190-24_1190-21del
ENST00000514224.2:c.1190-24_1190-21del MANE Select	ENSP00000425081.2:n.1190-24_1190-21del
ENST00000652070.1:n.1246-24_1246-21del
ENST00000247933.8:c.1190-24_1190-21del	ENSP00000247933.4:n.1190-24_1190-21del
ENST00000514224.1:c.794-24_794-21del	ENSP00000425081.1:n.794-24_794-21del
ENST00000514698.5:n.1297-24_1297-21del
NM_000203.4:c.1190-24_1190-21del	NP_000194.2:n.1190-24_1190-21del
NR_110313.1:n.1278-24_1278-21del
XM_006713882.2:c.794-24_794-21del	XP_006713945.1:n.794-24_794-21del
XM_011513459.1:c.1256-24_1256-21del	XP_011511761.1:n.1256-24_1256-21del
XM_011513460.1:c.1049-24_1049-21del	XP_011511762.1:n.1049-24_1049-21del
XM_011513461.1:c.983-24_983-21del	XP_011511763.1:n.983-24_983-21del
XM_011513462.1:c.902-24_902-21del	XP_011511764.1:n.902-24_902-21del
XM_011513463.1:c.902-24_902-21del	XP_011511765.1:n.902-24_902-21del
XR_924947.1:n.1259-24_1259-21del
NM_000203.5:c.1190-24_1190-21del MANE Select	NP_000194.2:n.1190-24_1190-21del
NM_001363576.1:c.794-24_794-21del	NP_001350505.1:n.794-24_794-21del
XM_011513461.2:c.983-24_983-21del	XP_011511763.1:n.983-24_983-21del
XM_017008163.1:c.230-24_230-21del	XP_016863652.1:n.230-24_230-21del