Canonical Allele Identifier: CA2669479391

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001709-A-AGGGTCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001711_1001718dup , CM000666.2:g.1001711_1001718dup	GRCh38
NC_000004.11:g.995499_995506dup , CM000666.1:g.995499_995506dup	GRCh37
NC_000004.10:g.985499_985506dup	NCBI36
NG_008103.1:g.19715_19722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.622_629dup	ENSP00000247933.4:p.Ala211ValfsTer26
ENST00000514224.2:c.622_629dup MANE Select	ENSP00000425081.2:p.Ala211ValfsTer26
ENST00000652070.1:n.678_685dup
ENST00000247933.8:c.622_629dup	ENSP00000247933.4:p.Ala211ValfsTer26
ENST00000502910.5:c.481_488dup	ENSP00000422952.1:p.Ala164ValfsTer26
ENST00000509948.5:c.415_422dup	ENSP00000424227.1:p.Ala142ValfsTer26
ENST00000514192.5:c.439_446dup	ENSP00000423685.1:p.Ala150ValfsTer26
ENST00000514224.1:c.226_233dup	ENSP00000425081.1:p.Ala79ValfsTer26
ENST00000514698.5:n.522_529dup
NM_000203.4:c.622_629dup	NP_000194.2:p.Ala211ValfsTer26
NR_110313.1:n.710_717dup
XM_006713882.2:c.226_233dup	XP_006713945.1:p.Ala79ValfsTer26
XM_011513459.1:c.481_488dup	XP_011511761.1:p.Ala164ValfsTer26
XM_011513460.1:c.481_488dup	XP_011511762.1:p.Ala164ValfsTer26
XM_011513461.1:c.415_422dup	XP_011511763.1:p.Ala142ValfsTer26
XM_011513462.1:c.334_341dup	XP_011511764.1:p.Ala115ValfsTer26
XM_011513463.1:c.334_341dup	XP_011511765.1:p.Ala115ValfsTer26
XR_924947.1:n.691_698dup
NM_000203.5:c.622_629dup MANE Select	NP_000194.2:p.Ala211ValfsTer26
NM_001363576.1:c.226_233dup	NP_001350505.1:p.Ala79ValfsTer26
XM_011513461.2:c.415_422dup	XP_011511763.1:p.Ala142ValfsTer26
XM_017008163.1:c.-339_-332dup	XP_016863652.1:n.-339_-332dup