Canonical Allele Identifier: CA2669482625

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003168-CGCGGAGGGGCGAGGGGCCGGGCCGGGCCGGGGTCCCGGGGGGGTGGGGTCCGGGGCGGGGGCTCCGAGGCGGTGTGGGTGGGAGGTGGAGCGGTGGGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003170_1003269del , CM000666.2:g.1003170_1003269del	GRCh38
NC_000004.11:g.996958_997057del , CM000666.1:g.996958_997057del	GRCh37
NC_000004.10:g.986958_987057del	NCBI36
NG_008103.1:g.21174_21273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+13_1525-76del	ENSP00000247933.4:n.1524+13_1525-76del
ENST00000514224.2:c.1524+13_1525-76del MANE Select	ENSP00000425081.2:n.1524+13_1525-76del
ENST00000652070.1:n.1580+13_1581-76del
ENST00000247933.8:c.1524+13_1525-76del	ENSP00000247933.4:n.1524+13_1525-76del
ENST00000502829.1:n.339_438del
ENST00000514224.1:c.1128+13_1129-76del	ENSP00000425081.1:n.1128+13_1129-76del
ENST00000514698.5:n.1631+13_1632-76del
NM_000203.4:c.1524+13_1525-76del	NP_000194.2:n.1524+13_1525-76del
NR_110313.1:n.1612+13_1613-76del
XM_006713882.2:c.1128+13_1129-76del	XP_006713945.1:n.1128+13_1129-76del
XM_011513459.1:c.1590+13_1591-76del	XP_011511761.1:n.1590+13_1591-76del
XM_011513460.1:c.1383+13_1384-76del	XP_011511762.1:n.1383+13_1384-76del
XM_011513461.1:c.1317+13_1318-76del	XP_011511763.1:n.1317+13_1318-76del
XM_011513462.1:c.1236+13_1237-76del	XP_011511764.1:n.1236+13_1237-76del
XM_011513463.1:c.1236+13_1237-76del	XP_011511765.1:n.1236+13_1237-76del
XR_924947.1:n.1606_1705del
NM_000203.5:c.1524+13_1525-76del MANE Select	NP_000194.2:n.1524+13_1525-76del
NM_001363576.1:c.1128+13_1129-76del	NP_001350505.1:n.1128+13_1129-76del
XM_011513461.2:c.1317+13_1318-76del	XP_011511763.1:n.1317+13_1318-76del
XM_017008163.1:c.564+13_565-76del	XP_016863652.1:n.564+13_565-76del