Canonical Allele Identifier: CA2578014040

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001524-GACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001530_1001532del , CM000666.2:g.1001530_1001532del	GRCh38
NC_000004.11:g.995318_995320del , CM000666.1:g.995318_995320del	GRCh37
NC_000004.10:g.985318_985320del	NCBI36
NG_008103.1:g.19534_19536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.556_558del	ENSP00000247933.4:p.His186del
ENST00000514224.2:c.556_558del MANE Select	ENSP00000425081.2:p.His186del
ENST00000652070.1:n.612_614del
ENST00000247933.8:c.556_558del	ENSP00000247933.4:p.His186del
ENST00000502910.5:c.415_417del	ENSP00000422952.1:p.His139del
ENST00000504568.5:c.516_518del
ENST00000509948.5:c.349_351del	ENSP00000424227.1:p.His117del
ENST00000514192.5:c.373_375del	ENSP00000423685.1:p.His125del
ENST00000514224.1:c.160_162del	ENSP00000425081.1:p.His54del
ENST00000514698.5:n.456_458del
NM_000203.4:c.556_558del	NP_000194.2:p.His186del
NR_110313.1:n.644_646del
XM_006713882.2:c.160_162del	XP_006713945.1:p.His54del
XM_011513459.1:c.415_417del	XP_011511761.1:p.His139del
XM_011513460.1:c.415_417del	XP_011511762.1:p.His139del
XM_011513461.1:c.349_351del	XP_011511763.1:p.His117del
XM_011513462.1:c.268_270del	XP_011511764.1:p.His90del
XM_011513463.1:c.268_270del	XP_011511765.1:p.His90del
XR_924947.1:n.625_627del
NM_000203.5:c.556_558del MANE Select	NP_000194.2:p.His186del
NM_001363576.1:c.160_162del	NP_001350505.1:p.His54del
XM_011513461.2:c.349_351del	XP_011511763.1:p.His117del
XM_017008163.1:c.-433_-431del	XP_016863652.1:n.-433_-431del