Canonical Allele Identifier: CA1433071832

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003433_1003434delinsTG , CM000666.2:g.1003433_1003434delinsTG	GRCh38
NC_000004.11:g.997221_997222delinsTG , CM000666.1:g.997221_997222delinsTG	GRCh37
NC_000004.10:g.987221_987222delinsTG	NCBI36
NG_008103.1:g.21437_21438delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1613_1614delinsTG	ENSP00000247933.4:p.Val538=
ENST00000514224.2:c.1613_1614delinsTG MANE Select	ENSP00000425081.2:p.Val538=
ENST00000652070.1:n.1669_1670delinsTG
ENST00000247933.8:c.1613_1614delinsTG	ENSP00000247933.4:p.Val538=
ENST00000514224.1:c.1217_1218delinsTG	ENSP00000425081.1:p.Val406=
ENST00000514417.1:n.5_6delinsTG
ENST00000514698.5:n.1720_1721delinsTG
NM_000203.4:c.1613_1614delinsTG	NP_000194.2:p.Val538=
NR_110313.1:n.1701_1702delinsTG
XM_006713882.2:c.1217_1218delinsTG	XP_006713945.1:p.Val406=
XM_011513459.1:c.1679_1680delinsTG	XP_011511761.1:p.Val560=
XM_011513460.1:c.1472_1473delinsTG	XP_011511762.1:p.Val491=
XM_011513461.1:c.1406_1407delinsTG	XP_011511763.1:p.Val469=
XM_011513462.1:c.1325_1326delinsTG	XP_011511764.1:p.Val442=
XM_011513463.1:c.1325_1326delinsTG	XP_011511765.1:p.Val442=
XR_924947.1:n.1869_1870delinsTG
NM_000203.5:c.1613_1614delinsTG MANE Select	NP_000194.2:p.Val538=
NM_001363576.1:c.1217_1218delinsTG	NP_001350505.1:p.Val406=
XM_011513461.2:c.1406_1407delinsTG	XP_011511763.1:p.Val469=
XM_017008163.1:c.653_654delinsTG	XP_016863652.1:p.Val218=