Canonical Allele Identifier: CA549264510

Gene: IDUA

Linked Data

• dbSNP Id: rs1202857693
• gnomAD v2: 4-995591-GCGCCACTGCCA-G
• gnomAD v3: 4-1001803-GCGCCACTGCCA-G
• gnomAD v4: 4-1001803-GCGCCACTGCCA-G
• MyVariant Identifiers: chr4:g.995592_995602del (hg19) ; chr4:g.1001804_1001814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001806_1001816del , CM000666.2:g.1001806_1001816del	GRCh38
NC_000004.11:g.995594_995604del , CM000666.1:g.995594_995604del	GRCh37
NC_000004.10:g.985594_985604del	NCBI36
NG_008103.1:g.19810_19820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.717_727del	ENSP00000247933.4:p.His240ArgfsTer?
ENST00000514224.2:c.717_727del MANE Select	ENSP00000425081.2:p.His240ArgfsTer?
ENST00000652070.1:n.773_783del
ENST00000247933.8:c.717_727del	ENSP00000247933.4:p.His240ArgfsTer?
ENST00000502910.5:c.576_586del	ENSP00000422952.1:p.His193ArgfsTer?
ENST00000509948.5:c.510_520del	ENSP00000424227.1:p.His171ArgfsTer?
ENST00000514192.5:c.534_544del	ENSP00000423685.1:p.His179ArgfsTer?
ENST00000514224.1:c.321_331del	ENSP00000425081.1:p.His108ArgfsTer?
ENST00000514698.5:n.617_627del
NM_000203.4:c.717_727del	NP_000194.2:p.His240ArgfsTer?
NR_110313.1:n.805_815del
XM_006713882.2:c.321_331del	XP_006713945.1:p.His108ArgfsTer?
XM_011513459.1:c.576_586del	XP_011511761.1:p.His193ArgfsTer?
XM_011513460.1:c.576_586del	XP_011511762.1:p.His193ArgfsTer?
XM_011513461.1:c.510_520del	XP_011511763.1:p.His171ArgfsTer?
XM_011513462.1:c.429_439del	XP_011511764.1:p.His144ArgfsTer?
XM_011513463.1:c.429_439del	XP_011511765.1:p.His144ArgfsTer?
XR_924947.1:n.786_796del
NM_000203.5:c.717_727del MANE Select	NP_000194.2:p.His240ArgfsTer?
NM_001363576.1:c.321_331del	NP_001350505.1:p.His108ArgfsTer?
XM_011513461.2:c.510_520del	XP_011511763.1:p.His171ArgfsTer?
XM_017008163.1:c.-244_-234del	XP_016863652.1:n.-244_-234del