Canonical Allele Identifier: CA2669482610

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003131-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003132_1003134del , CM000666.2:g.1003132_1003134del	GRCh38
NC_000004.11:g.996920_996922del , CM000666.1:g.996920_996922del	GRCh37
NC_000004.10:g.986920_986922del	NCBI36
NG_008103.1:g.21136_21138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1499_1501del	ENSP00000247933.4:p.Gln500_Phe501delinsLeu
ENST00000514224.2:c.1499_1501del MANE Select	ENSP00000425081.2:p.Gln500_Phe501delinsLeu
ENST00000652070.1:n.1555_1557del
ENST00000247933.8:c.1499_1501del	ENSP00000247933.4:p.Gln500_Phe501delinsLeu
ENST00000502829.1:n.301_303del
ENST00000514224.1:c.1103_1105del	ENSP00000425081.1:p.Gln368_Phe369delinsLeu
ENST00000514698.5:n.1606_1608del
NM_000203.4:c.1499_1501del	NP_000194.2:p.Gln500_Phe501delinsLeu
NR_110313.1:n.1587_1589del
XM_006713882.2:c.1103_1105del	XP_006713945.1:p.Gln368_Phe369delinsLeu
XM_011513459.1:c.1565_1567del	XP_011511761.1:p.Gln522_Phe523delinsLeu
XM_011513460.1:c.1358_1360del	XP_011511762.1:p.Gln453_Phe454delinsLeu
XM_011513461.1:c.1292_1294del	XP_011511763.1:p.Gln431_Phe432delinsLeu
XM_011513462.1:c.1211_1213del	XP_011511764.1:p.Gln404_Phe405delinsLeu
XM_011513463.1:c.1211_1213del	XP_011511765.1:p.Gln404_Phe405delinsLeu
XR_924947.1:n.1568_1570del
NM_000203.5:c.1499_1501del MANE Select	NP_000194.2:p.Gln500_Phe501delinsLeu
NM_001363576.1:c.1103_1105del	NP_001350505.1:p.Gln368_Phe369delinsLeu
XM_011513461.2:c.1292_1294del	XP_011511763.1:p.Gln431_Phe432delinsLeu
XM_017008163.1:c.539_541del	XP_016863652.1:p.Gln180_Phe181delinsLeu