Canonical Allele Identifier: CA91172492

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004391_1004393del , CM000666.2:g.1004391_1004393del	GRCh38
NC_000004.11:g.998179_998181del , CM000666.1:g.998179_998181del	GRCh37
NC_000004.10:g.988179_988181del	NCBI36
NG_008103.1:g.22395_22397del

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1960_1962del MANE Select	NP_000194.2:p.Ter654del
ENST00000514224.2:c.1960_1962del MANE Select	ENSP00000425081.2:p.Ter654del
NM_000203.4:c.1960_1962del	NP_000194.2:p.Ter654del
NM_001363576.1:c.1564_1566del	NP_001350505.1:p.Ter522del
NR_110313.1:n.2052_2054del
ENST00000247933.8:c.1960_1962del	ENSP00000247933.4:p.Ter654del
ENST00000247933.9:c.1960_1962del	ENSP00000247933.4:p.Ter654del
ENST00000514224.1:c.1564_1566del	ENSP00000425081.1:p.Ter522del
ENST00000514698.5:n.2071_2073del
ENST00000652070.1:n.2016_2018del
XM_006713882.2:c.1564_1566del	XP_006713945.1:p.Ter522del
XM_011513459.1:c.2026_2028del	XP_011511761.1:p.Ter676del
XM_011513460.1:c.1819_1821del	XP_011511762.1:p.Ter607del
XM_011513461.1:c.1753_1755del	XP_011511763.1:p.Ter585del
XM_011513461.2:c.1753_1755del	XP_011511763.1:p.Ter585del
XM_011513462.1:c.1672_1674del	XP_011511764.1:p.Ter558del
XM_011513463.1:c.1672_1674del	XP_011511765.1:p.Ter558del
XM_017008163.1:c.1000_1002del	XP_016863652.1:p.Ter334del
XR_924947.1:n.2220_2222del