Canonical Allele Identifier: CA2586965990

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003494_1003505del , CM000666.2:g.1003494_1003505del	GRCh38
NC_000004.11:g.997282_997293del , CM000666.1:g.997282_997293del	GRCh37
NC_000004.10:g.987282_987293del	NCBI36
NG_008103.1:g.21498_21509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+24_1650+35del	ENSP00000247933.4:n.1650+24_1650+35del
ENST00000514224.2:c.1650+24_1650+35del MANE Select	ENSP00000425081.2:n.1650+24_1650+35del
ENST00000652070.1:n.1706+24_1706+35del
ENST00000247933.8:c.1650+24_1650+35del	ENSP00000247933.4:n.1650+24_1650+35del
ENST00000514224.1:c.1254+24_1254+35del	ENSP00000425081.1:n.1254+24_1254+35del
ENST00000514417.1:n.42+24_42+35del
ENST00000514698.5:n.1757+24_1757+35del
NM_000203.4:c.1650+24_1650+35del	NP_000194.2:n.1650+24_1650+35del
NR_110313.1:n.1738+24_1738+35del
XM_006713882.2:c.1254+24_1254+35del	XP_006713945.1:n.1254+24_1254+35del
XM_011513459.1:c.1716+24_1716+35del	XP_011511761.1:n.1716+24_1716+35del
XM_011513460.1:c.1509+24_1509+35del	XP_011511762.1:n.1509+24_1509+35del
XM_011513461.1:c.1443+24_1443+35del	XP_011511763.1:n.1443+24_1443+35del
XM_011513462.1:c.1362+24_1362+35del	XP_011511764.1:n.1362+24_1362+35del
XM_011513463.1:c.1362+24_1362+35del	XP_011511765.1:n.1362+24_1362+35del
XR_924947.1:n.1906+24_1906+35del
NM_000203.5:c.1650+24_1650+35del MANE Select	NP_000194.2:n.1650+24_1650+35del
NM_001363576.1:c.1254+24_1254+35del	NP_001350505.1:n.1254+24_1254+35del
XM_011513461.2:c.1443+24_1443+35del	XP_011511763.1:n.1443+24_1443+35del
XM_017008163.1:c.690+24_690+35del	XP_016863652.1:n.690+24_690+35del