Canonical Allele Identifier: CA2802223

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2890126
• ClinVar RCV Id: RCV003756227
• dbSNP Id: rs776598804
• ExAC: 4:996509 C / CT
• gnomAD v2: 4-996509-C-CT
• gnomAD v3: 4-1002721-C-CT
• gnomAD v4: 4-1002721-C-CT
• MyVariant Identifiers: chr4:g.996509_996510insT (hg19) ; chr4:g.1002721_1002722insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002721_1002722insT , CM000666.2:g.1002721_1002722insT	GRCh38
NC_000004.11:g.996509_996510insT , CM000666.1:g.996509_996510insT	GRCh37
NC_000004.10:g.986509_986510insT	NCBI36
NG_008103.1:g.20725_20726insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-11_1190-10insT	ENSP00000247933.4:n.1190-11_1190-10insT
ENST00000514224.2:c.1190-11_1190-10insT MANE Select	ENSP00000425081.2:n.1190-11_1190-10insT
ENST00000652070.1:n.1246-11_1246-10insT
ENST00000247933.8:c.1190-11_1190-10insT	ENSP00000247933.4:n.1190-11_1190-10insT
ENST00000514224.1:c.794-11_794-10insT	ENSP00000425081.1:n.794-11_794-10insT
ENST00000514698.5:n.1297-11_1297-10insT
NM_000203.4:c.1190-11_1190-10insT	NP_000194.2:n.1190-11_1190-10insT
NR_110313.1:n.1278-11_1278-10insT
XM_006713882.2:c.794-11_794-10insT	XP_006713945.1:n.794-11_794-10insT
XM_011513459.1:c.1256-11_1256-10insT	XP_011511761.1:n.1256-11_1256-10insT
XM_011513460.1:c.1049-11_1049-10insT	XP_011511762.1:n.1049-11_1049-10insT
XM_011513461.1:c.983-11_983-10insT	XP_011511763.1:n.983-11_983-10insT
XM_011513462.1:c.902-11_902-10insT	XP_011511764.1:n.902-11_902-10insT
XM_011513463.1:c.902-11_902-10insT	XP_011511765.1:n.902-11_902-10insT
XR_924947.1:n.1259-11_1259-10insT
NM_000203.5:c.1190-11_1190-10insT MANE Select	NP_000194.2:n.1190-11_1190-10insT
NM_001363576.1:c.794-11_794-10insT	NP_001350505.1:n.794-11_794-10insT
XM_011513461.2:c.983-11_983-10insT	XP_011511763.1:n.983-11_983-10insT
XM_017008163.1:c.230-11_230-10insT	XP_016863652.1:n.230-11_230-10insT