Canonical Allele Identifier: CA2580070689

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1724446
• ClinVar RCV Id: RCV002309714
• gnomAD v4: 4-1003367-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003371del , CM000666.2:g.1003371del	GRCh38
NC_000004.11:g.997159del , CM000666.1:g.997159del	GRCh37
NC_000004.10:g.987159del	NCBI36
NG_008103.1:g.21375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1551del	ENSP00000247933.4:p.Leu518TyrfsTer7
ENST00000514224.2:c.1551del MANE Select	ENSP00000425081.2:p.Leu518TyrfsTer7
ENST00000652070.1:n.1607del
ENST00000247933.8:c.1551del	ENSP00000247933.4:p.Leu518TyrfsTer7
ENST00000502829.1:n.540del
ENST00000514224.1:c.1155del	ENSP00000425081.1:p.Leu386TyrfsTer7
ENST00000514698.5:n.1658del
NM_000203.4:c.1551del	NP_000194.2:p.Leu518TyrfsTer7
NR_110313.1:n.1639del
XM_006713882.2:c.1155del	XP_006713945.1:p.Leu386TyrfsTer7
XM_011513459.1:c.1617del	XP_011511761.1:p.Leu540TyrfsTer7
XM_011513460.1:c.1410del	XP_011511762.1:p.Leu471TyrfsTer7
XM_011513461.1:c.1344del	XP_011511763.1:p.Leu449TyrfsTer7
XM_011513462.1:c.1263del	XP_011511764.1:p.Leu422TyrfsTer7
XM_011513463.1:c.1263del	XP_011511765.1:p.Leu422TyrfsTer7
XR_924947.1:n.1807del
NM_000203.5:c.1551del MANE Select	NP_000194.2:p.Leu518TyrfsTer7
NM_001363576.1:c.1155del	NP_001350505.1:p.Leu386TyrfsTer7
XM_011513461.2:c.1344del	XP_011511763.1:p.Leu449TyrfsTer7
XM_017008163.1:c.591del	XP_016863652.1:p.Leu198TyrfsTer7