Canonical Allele Identifier: CA658657370

Gene: IDUA

Linked Data

• ClinVar Variation Id: 456720
• ClinVar RCV Id: RCV000547146 ; RCV001007594 ; RCV001266574 ; RCV001788278
• dbSNP Id: rs1553917209
• gnomAD v4: 4-1002064-AC-A
• MyVariant Identifiers: chr4:g.995853del (hg19) ; chr4:g.1002065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002065del , CM000666.2:g.1002065del	GRCh38
NC_000004.11:g.995853del , CM000666.1:g.995853del	GRCh37
NC_000004.10:g.985853del	NCBI36
NG_008103.1:g.20069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.876del	ENSP00000247933.4:p.Asp292GlufsTer25
ENST00000514224.2:c.876del MANE Select	ENSP00000425081.2:p.Asp292GlufsTer25
ENST00000652070.1:n.932del
ENST00000247933.8:c.876del	ENSP00000247933.4:p.Asp292GlufsTer25
ENST00000514192.5:c.693del	ENSP00000423685.1:p.Asp231GlufsTer?
ENST00000514224.1:c.480del	ENSP00000425081.1:p.Asp160GlufsTer25
ENST00000514698.5:n.876del
NM_000203.4:c.876del	NP_000194.2:p.Asp292GlufsTer25
NR_110313.1:n.964del
XM_006713882.2:c.480del	XP_006713945.1:p.Asp160GlufsTer25
XM_011513459.1:c.835del	XP_011511761.1:p.His279ThrfsTer?
XM_011513460.1:c.735del	XP_011511762.1:p.Asp245GlufsTer25
XM_011513461.1:c.669del	XP_011511763.1:p.Asp223GlufsTer25
XM_011513462.1:c.588del	XP_011511764.1:p.Asp196GlufsTer25
XM_011513463.1:c.588del	XP_011511765.1:p.Asp196GlufsTer25
XR_924947.1:n.945del
NM_000203.5:c.876del MANE Select	NP_000194.2:p.Asp292GlufsTer25
NM_001363576.1:c.480del	NP_001350505.1:p.Asp160GlufsTer25
XM_011513461.2:c.669del	XP_011511763.1:p.Asp223GlufsTer25
XM_017008163.1:c.-85del	XP_016863652.1:n.-85del