Canonical Allele Identifier: CA2669479337

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001694-ACGATGCCTGCTCGGAGGGTCTGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001697_1001720del , CM000666.2:g.1001697_1001720del	GRCh38
NC_000004.11:g.995485_995508del , CM000666.1:g.995485_995508del	GRCh37
NC_000004.10:g.985485_985508del	NCBI36
NG_008103.1:g.19701_19724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.608_631del	ENSP00000247933.4:p.Asp203_Arg210del
ENST00000514224.2:c.608_631del MANE Select	ENSP00000425081.2:p.Asp203_Arg210del
ENST00000652070.1:n.664_687del
ENST00000247933.8:c.608_631del	ENSP00000247933.4:p.Asp203_Arg210del
ENST00000502910.5:c.467_490del	ENSP00000422952.1:p.Asp156_Arg163del
ENST00000509948.5:c.401_424del	ENSP00000424227.1:p.Asp134_Arg141del
ENST00000514192.5:c.425_448del	ENSP00000423685.1:p.Asp142_Arg149del
ENST00000514224.1:c.212_235del	ENSP00000425081.1:p.Asp71_Arg78del
ENST00000514698.5:n.508_531del
NM_000203.4:c.608_631del	NP_000194.2:p.Asp203_Arg210del
NR_110313.1:n.696_719del
XM_006713882.2:c.212_235del	XP_006713945.1:p.Asp71_Arg78del
XM_011513459.1:c.467_490del	XP_011511761.1:p.Asp156_Arg163del
XM_011513460.1:c.467_490del	XP_011511762.1:p.Asp156_Arg163del
XM_011513461.1:c.401_424del	XP_011511763.1:p.Asp134_Arg141del
XM_011513462.1:c.320_343del	XP_011511764.1:p.Asp107_Arg114del
XM_011513463.1:c.320_343del	XP_011511765.1:p.Asp107_Arg114del
XR_924947.1:n.677_700del
NM_000203.5:c.608_631del MANE Select	NP_000194.2:p.Asp203_Arg210del
NM_001363576.1:c.212_235del	NP_001350505.1:p.Asp71_Arg78del
XM_011513461.2:c.401_424del	XP_011511763.1:p.Asp134_Arg141del
XM_017008163.1:c.-353_-330del	XP_016863652.1:n.-353_-330del