Canonical Allele Identifier: CA355965061

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.1003435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003435del , CM000666.2:g.1003435del	GRCh38
NC_000004.11:g.997223del , CM000666.1:g.997223del	GRCh37
NC_000004.10:g.987223del	NCBI36
NG_008103.1:g.21439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1615del	ENSP00000247933.4:p.His539ThrfsTer21
ENST00000514224.2:c.1615del MANE Select	ENSP00000425081.2:p.His539ThrfsTer21
ENST00000652070.1:n.1671del
ENST00000247933.8:c.1615del	ENSP00000247933.4:p.His539ThrfsTer21
ENST00000514224.1:c.1219del	ENSP00000425081.1:p.His407ThrfsTer21
ENST00000514417.1:n.7del
ENST00000514698.5:n.1722del
NM_000203.4:c.1615del	NP_000194.2:p.His539ThrfsTer21
NR_110313.1:n.1703del
XM_006713882.2:c.1219del	XP_006713945.1:p.His407ThrfsTer21
XM_011513459.1:c.1681del	XP_011511761.1:p.His561ThrfsTer21
XM_011513460.1:c.1474del	XP_011511762.1:p.His492ThrfsTer21
XM_011513461.1:c.1408del	XP_011511763.1:p.His470ThrfsTer21
XM_011513462.1:c.1327del	XP_011511764.1:p.His443ThrfsTer21
XM_011513463.1:c.1327del	XP_011511765.1:p.His443ThrfsTer21
XR_924947.1:n.1871del
NM_000203.5:c.1615del MANE Select	NP_000194.2:p.His539ThrfsTer21
NM_001363576.1:c.1219del	NP_001350505.1:p.His407ThrfsTer21
XM_011513461.2:c.1408del	XP_011511763.1:p.His470ThrfsTer21
XM_017008163.1:c.655del	XP_016863652.1:p.His219ThrfsTer21