Canonical Allele Identifier: CA2669482719

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003223-GCGGGGGCTCCGAGGCGGTGTGGGTGGGAGGTGGAGCGGTGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003231_1003273del , CM000666.2:g.1003231_1003273del	GRCh38
NC_000004.11:g.997019_997061del , CM000666.1:g.997019_997061del	GRCh37
NC_000004.10:g.987019_987061del	NCBI36
NG_008103.1:g.21235_21277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+74_1525-72del	ENSP00000247933.4:n.1524+74_1525-72del
ENST00000514224.2:c.1524+74_1525-72del MANE Select	ENSP00000425081.2:n.1524+74_1525-72del
ENST00000652070.1:n.1580+74_1581-72del
ENST00000247933.8:c.1524+74_1525-72del	ENSP00000247933.4:n.1524+74_1525-72del
ENST00000502829.1:n.400_442del
ENST00000514224.1:c.1128+74_1129-72del	ENSP00000425081.1:n.1128+74_1129-72del
ENST00000514698.5:n.1631+74_1632-72del
NM_000203.4:c.1524+74_1525-72del	NP_000194.2:n.1524+74_1525-72del
NR_110313.1:n.1612+74_1613-72del
XM_006713882.2:c.1128+74_1129-72del	XP_006713945.1:n.1128+74_1129-72del
XM_011513459.1:c.1590+74_1591-72del	XP_011511761.1:n.1590+74_1591-72del
XM_011513460.1:c.1383+74_1384-72del	XP_011511762.1:n.1383+74_1384-72del
XM_011513461.1:c.1317+74_1318-72del	XP_011511763.1:n.1317+74_1318-72del
XM_011513462.1:c.1236+74_1237-72del	XP_011511764.1:n.1236+74_1237-72del
XM_011513463.1:c.1236+74_1237-72del	XP_011511765.1:n.1236+74_1237-72del
XR_924947.1:n.1667_1709del
NM_000203.5:c.1524+74_1525-72del MANE Select	NP_000194.2:n.1524+74_1525-72del
NM_001363576.1:c.1128+74_1129-72del	NP_001350505.1:n.1128+74_1129-72del
XM_011513461.2:c.1317+74_1318-72del	XP_011511763.1:n.1317+74_1318-72del
XM_017008163.1:c.564+74_565-72del	XP_016863652.1:n.564+74_565-72del