Canonical Allele Identifier: CA2669482878

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003320-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003321_1003322del , CM000666.2:g.1003321_1003322del	GRCh38
NC_000004.11:g.997109_997110del , CM000666.1:g.997109_997110del	GRCh37
NC_000004.10:g.987109_987110del	NCBI36
NG_008103.1:g.21325_21326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1525-24_1525-23del	ENSP00000247933.4:n.1525-24_1525-23del
ENST00000514224.2:c.1525-24_1525-23del MANE Select	ENSP00000425081.2:n.1525-24_1525-23del
ENST00000652070.1:n.1581-24_1581-23del
ENST00000247933.8:c.1525-24_1525-23del	ENSP00000247933.4:n.1525-24_1525-23del
ENST00000502829.1:n.490_491del
ENST00000514224.1:c.1129-24_1129-23del	ENSP00000425081.1:n.1129-24_1129-23del
ENST00000514698.5:n.1632-24_1632-23del
NM_000203.4:c.1525-24_1525-23del	NP_000194.2:n.1525-24_1525-23del
NR_110313.1:n.1613-24_1613-23del
XM_006713882.2:c.1129-24_1129-23del	XP_006713945.1:n.1129-24_1129-23del
XM_011513459.1:c.1591-24_1591-23del	XP_011511761.1:n.1591-24_1591-23del
XM_011513460.1:c.1384-24_1384-23del	XP_011511762.1:n.1384-24_1384-23del
XM_011513461.1:c.1318-24_1318-23del	XP_011511763.1:n.1318-24_1318-23del
XM_011513462.1:c.1237-24_1237-23del	XP_011511764.1:n.1237-24_1237-23del
XM_011513463.1:c.1237-24_1237-23del	XP_011511765.1:n.1237-24_1237-23del
XR_924947.1:n.1757_1758del
NM_000203.5:c.1525-24_1525-23del MANE Select	NP_000194.2:n.1525-24_1525-23del
NM_001363576.1:c.1129-24_1129-23del	NP_001350505.1:n.1129-24_1129-23del
XM_011513461.2:c.1318-24_1318-23del	XP_011511763.1:n.1318-24_1318-23del
XM_017008163.1:c.565-24_565-23del	XP_016863652.1:n.565-24_565-23del