Canonical Allele Identifier: CA1433069995

Gene: IDUA

Linked Data

• dbSNP Id: rs150523349
• gnomAD v4: 4-1002713-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002720_1002722del , CM000666.2:g.1002720_1002722del	GRCh38
NC_000004.11:g.996508_996510del , CM000666.1:g.996508_996510del	GRCh37
NC_000004.10:g.986508_986510del	NCBI36
NG_008103.1:g.20724_20726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-12_1190-10del	ENSP00000247933.4:n.1190-12_1190-10del
ENST00000514224.2:c.1190-12_1190-10del MANE Select	ENSP00000425081.2:n.1190-12_1190-10del
ENST00000652070.1:n.1246-12_1246-10del
ENST00000247933.8:c.1190-12_1190-10del	ENSP00000247933.4:n.1190-12_1190-10del
ENST00000514224.1:c.794-12_794-10del	ENSP00000425081.1:n.794-12_794-10del
ENST00000514698.5:n.1297-12_1297-10del
NM_000203.4:c.1190-12_1190-10del	NP_000194.2:n.1190-12_1190-10del
NR_110313.1:n.1278-12_1278-10del
XM_006713882.2:c.794-12_794-10del	XP_006713945.1:n.794-12_794-10del
XM_011513459.1:c.1256-12_1256-10del	XP_011511761.1:n.1256-12_1256-10del
XM_011513460.1:c.1049-12_1049-10del	XP_011511762.1:n.1049-12_1049-10del
XM_011513461.1:c.983-12_983-10del	XP_011511763.1:n.983-12_983-10del
XM_011513462.1:c.902-12_902-10del	XP_011511764.1:n.902-12_902-10del
XM_011513463.1:c.902-12_902-10del	XP_011511765.1:n.902-12_902-10del
XR_924947.1:n.1259-12_1259-10del
NM_000203.5:c.1190-12_1190-10del MANE Select	NP_000194.2:n.1190-12_1190-10del
NM_001363576.1:c.794-12_794-10del	NP_001350505.1:n.794-12_794-10del
XM_011513461.2:c.983-12_983-10del	XP_011511763.1:n.983-12_983-10del
XM_017008163.1:c.230-12_230-10del	XP_016863652.1:n.230-12_230-10del