Canonical Allele Identifier: CA549153803

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2740143
• ClinVar RCV Id: RCV003591197
• dbSNP Id: rs1191584586
• gnomAD v2: 4-997430-GC-G
• gnomAD v4: 4-1003642-GC-G
• MyVariant Identifiers: chr4:g.997431del (hg19) ; chr4:g.1003643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003646del , CM000666.2:g.1003646del	GRCh38
NC_000004.11:g.997434del , CM000666.1:g.997434del	GRCh37
NC_000004.10:g.987434del	NCBI36
NG_008103.1:g.21650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+21del	ENSP00000247933.4:n.1727+21del
ENST00000514224.2:c.1727+21del MANE Select	ENSP00000425081.2:n.1727+21del
ENST00000652070.1:n.1783+21del
ENST00000247933.8:c.1727+21del	ENSP00000247933.4:n.1727+21del
ENST00000514224.1:c.1331+21del	ENSP00000425081.1:n.1331+21del
ENST00000514417.1:n.140del
ENST00000514698.5:n.1838+17del
NM_000203.4:c.1727+21del	NP_000194.2:n.1727+21del
NR_110313.1:n.1819+17del
XM_006713882.2:c.1331+21del	XP_006713945.1:n.1331+21del
XM_011513459.1:c.1793+21del	XP_011511761.1:n.1793+21del
XM_011513460.1:c.1586+21del	XP_011511762.1:n.1586+21del
XM_011513461.1:c.1520+21del	XP_011511763.1:n.1520+21del
XM_011513462.1:c.1439+21del	XP_011511764.1:n.1439+21del
XM_011513463.1:c.1439+21del	XP_011511765.1:n.1439+21del
XR_924947.1:n.1987+17del
NM_000203.5:c.1727+21del MANE Select	NP_000194.2:n.1727+21del
NM_001363576.1:c.1331+21del	NP_001350505.1:n.1331+21del
XM_011513461.2:c.1520+21del	XP_011511763.1:n.1520+21del
XM_017008163.1:c.767+21del	XP_016863652.1:n.767+21del