Canonical Allele Identifier: CA2573052266

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1323094
• ClinVar RCV Id: RCV001783458 ; RCV002034567
• dbSNP Id: rs2153022263

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002154del , CM000666.2:g.1002154del	GRCh38
NC_000004.11:g.995942del , CM000666.1:g.995942del	GRCh37
NC_000004.10:g.985942del	NCBI36
NG_008103.1:g.20158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.965del	ENSP00000247933.4:p.Val322GlyfsTer2
ENST00000514224.2:c.965del MANE Select	ENSP00000425081.2:p.Val322GlyfsTer2
ENST00000652070.1:n.1021del
ENST00000247933.8:c.965del	ENSP00000247933.4:p.Val322GlyfsTer2
ENST00000514224.1:c.569del	ENSP00000425081.1:p.Val190GlyfsTer2
ENST00000514698.5:n.965del
NM_000203.4:c.965del	NP_000194.2:p.Val322GlyfsTer2
NR_110313.1:n.1053del
XM_006713882.2:c.569del	XP_006713945.1:p.Val190GlyfsTer2
XM_011513459.1:c.924del	XP_011511761.1:p.Gly309ValfsTer?
XM_011513460.1:c.824del	XP_011511762.1:p.Val275GlyfsTer2
XM_011513461.1:c.758del	XP_011511763.1:p.Val253GlyfsTer2
XM_011513462.1:c.677del	XP_011511764.1:p.Val226GlyfsTer2
XM_011513463.1:c.677del	XP_011511765.1:p.Val226GlyfsTer2
XR_924947.1:n.1034del
NM_000203.5:c.965del MANE Select	NP_000194.2:p.Val322GlyfsTer2
NM_001363576.1:c.569del	NP_001350505.1:p.Val190GlyfsTer2
XM_011513461.2:c.758del	XP_011511763.1:p.Val253GlyfsTer2
XM_017008163.1:c.5del	XP_016863652.1:p.Val2GlyfsTer2