Canonical Allele Identifier: CA1433072258

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2812899
• ClinVar RCV Id: RCV003755442
• dbSNP Id: rs1715262294

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003621_1003629del , CM000666.2:g.1003621_1003629del	GRCh38
NC_000004.11:g.997409_997417del , CM000666.1:g.997409_997417del	GRCh37
NC_000004.10:g.987409_987417del	NCBI36
NG_008103.1:g.21625_21633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1723_1727+4del
ENST00000514224.2:c.1723_1727+4del
ENST00000652070.1:n.1779_1783+4del
ENST00000247933.8:c.1723_1727+4del
ENST00000514224.1:c.1327_1331+4del
ENST00000514417.1:n.115_123del
ENST00000514698.5:n.1830_1838del
NM_000203.4:c.1723_1727+4del
NR_110313.1:n.1811_1819del
XM_006713882.2:c.1327_1331+4del
XM_011513459.1:c.1789_1793+4del
XM_011513460.1:c.1582_1586+4del
XM_011513461.1:c.1516_1520+4del
XM_011513462.1:c.1435_1439+4del
XM_011513463.1:c.1435_1439+4del
XR_924947.1:n.1979_1987del
NM_000203.5:c.1723_1727+4del
NM_001363576.1:c.1327_1331+4del
XM_011513461.2:c.1516_1520+4del
XM_017008163.1:c.763_767+4del