Canonical Allele Identifier: CA2669482926

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003423-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003427del , CM000666.2:g.1003427del	GRCh38
NC_000004.11:g.997215del , CM000666.1:g.997215del	GRCh37
NC_000004.10:g.987215del	NCBI36
NG_008103.1:g.21431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1607del	ENSP00000247933.4:p.Leu536CysfsTer24
ENST00000514224.2:c.1607del MANE Select	ENSP00000425081.2:p.Leu536CysfsTer24
ENST00000652070.1:n.1663del
ENST00000247933.8:c.1607del	ENSP00000247933.4:p.Leu536CysfsTer24
ENST00000514224.1:c.1211del	ENSP00000425081.1:p.Leu404CysfsTer24
ENST00000514698.5:n.1714del
NM_000203.4:c.1607del	NP_000194.2:p.Leu536CysfsTer24
NR_110313.1:n.1695del
XM_006713882.2:c.1211del	XP_006713945.1:p.Leu404CysfsTer24
XM_011513459.1:c.1673del	XP_011511761.1:p.Leu558CysfsTer24
XM_011513460.1:c.1466del	XP_011511762.1:p.Leu489CysfsTer24
XM_011513461.1:c.1400del	XP_011511763.1:p.Leu467CysfsTer24
XM_011513462.1:c.1319del	XP_011511764.1:p.Leu440CysfsTer24
XM_011513463.1:c.1319del	XP_011511765.1:p.Leu440CysfsTer24
XR_924947.1:n.1863del
NM_000203.5:c.1607del MANE Select	NP_000194.2:p.Leu536CysfsTer24
NM_001363576.1:c.1211del	NP_001350505.1:p.Leu404CysfsTer24
XM_011513461.2:c.1400del	XP_011511763.1:p.Leu467CysfsTer24
XM_017008163.1:c.647del	XP_016863652.1:p.Leu216CysfsTer24