Canonical Allele Identifier: CA2578014112

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003498_1003503del , CM000666.2:g.1003498_1003503del	GRCh38
NC_000004.11:g.997286_997291del , CM000666.1:g.997286_997291del	GRCh37
NC_000004.10:g.987286_987291del	NCBI36
NG_008103.1:g.21502_21507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+28_1650+33del	ENSP00000247933.4:n.1650+28_1650+33del
ENST00000514224.2:c.1650+28_1650+33del MANE Select	ENSP00000425081.2:n.1650+28_1650+33del
ENST00000652070.1:n.1706+28_1706+33del
ENST00000247933.8:c.1650+28_1650+33del	ENSP00000247933.4:n.1650+28_1650+33del
ENST00000514224.1:c.1254+28_1254+33del	ENSP00000425081.1:n.1254+28_1254+33del
ENST00000514417.1:n.42+28_42+33del
ENST00000514698.5:n.1757+28_1757+33del
NM_000203.4:c.1650+28_1650+33del	NP_000194.2:n.1650+28_1650+33del
NR_110313.1:n.1738+28_1738+33del
XM_006713882.2:c.1254+28_1254+33del	XP_006713945.1:n.1254+28_1254+33del
XM_011513459.1:c.1716+28_1716+33del	XP_011511761.1:n.1716+28_1716+33del
XM_011513460.1:c.1509+28_1509+33del	XP_011511762.1:n.1509+28_1509+33del
XM_011513461.1:c.1443+28_1443+33del	XP_011511763.1:n.1443+28_1443+33del
XM_011513462.1:c.1362+28_1362+33del	XP_011511764.1:n.1362+28_1362+33del
XM_011513463.1:c.1362+28_1362+33del	XP_011511765.1:n.1362+28_1362+33del
XR_924947.1:n.1906+28_1906+33del
NM_000203.5:c.1650+28_1650+33del MANE Select	NP_000194.2:n.1650+28_1650+33del
NM_001363576.1:c.1254+28_1254+33del	NP_001350505.1:n.1254+28_1254+33del
XM_011513461.2:c.1443+28_1443+33del	XP_011511763.1:n.1443+28_1443+33del
XM_017008163.1:c.690+28_690+33del	XP_016863652.1:n.690+28_690+33del