Canonical Allele Identifier: CA438057977

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997240delC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003452del , CM000666.2:g.1003452del	GRCh38
NC_000004.11:g.997240del , CM000666.1:g.997240del	GRCh37
NC_000004.10:g.987240del	NCBI36
NG_008103.1:g.21456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1632del	ENSP00000247933.4:p.Glu545ArgfsTer15
ENST00000514224.2:c.1632del MANE Select	ENSP00000425081.2:p.Glu545ArgfsTer15
ENST00000652070.1:n.1688del
ENST00000247933.8:c.1632del	ENSP00000247933.4:p.Glu545ArgfsTer15
ENST00000514224.1:c.1236del	ENSP00000425081.1:p.Glu413ArgfsTer15
ENST00000514417.1:n.24del
ENST00000514698.5:n.1739del
NM_000203.4:c.1632del	NP_000194.2:p.Glu545ArgfsTer15
NR_110313.1:n.1720del
XM_006713882.2:c.1236del	XP_006713945.1:p.Glu413ArgfsTer15
XM_011513459.1:c.1698del	XP_011511761.1:p.Glu567ArgfsTer15
XM_011513460.1:c.1491del	XP_011511762.1:p.Glu498ArgfsTer15
XM_011513461.1:c.1425del	XP_011511763.1:p.Glu476ArgfsTer15
XM_011513462.1:c.1344del	XP_011511764.1:p.Glu449ArgfsTer15
XM_011513463.1:c.1344del	XP_011511765.1:p.Glu449ArgfsTer15
XR_924947.1:n.1888del
NM_000203.5:c.1632del MANE Select	NP_000194.2:p.Glu545ArgfsTer15
NM_001363576.1:c.1236del	NP_001350505.1:p.Glu413ArgfsTer15
XM_011513461.2:c.1425del	XP_011511763.1:p.Glu476ArgfsTer15
XM_017008163.1:c.672del	XP_016863652.1:p.Glu225ArgfsTer15