Canonical Allele Identifier: CA2760125701

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003210_1003211dup , CM000666.2:g.1003210_1003211dup	GRCh38
NC_000004.11:g.996998_996999dup , CM000666.1:g.996998_996999dup	GRCh37
NC_000004.10:g.986998_986999dup	NCBI36
NG_008103.1:g.21214_21215dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+53_1524+54dup	ENSP00000247933.4:n.1524+53_1524+54dup
ENST00000514224.2:c.1524+53_1524+54dup MANE Select	ENSP00000425081.2:n.1524+53_1524+54dup
ENST00000652070.1:n.1580+53_1580+54dup
ENST00000247933.8:c.1524+53_1524+54dup	ENSP00000247933.4:n.1524+53_1524+54dup
ENST00000502829.1:n.379_380dup
ENST00000514224.1:c.1128+53_1128+54dup	ENSP00000425081.1:n.1128+53_1128+54dup
ENST00000514698.5:n.1631+53_1631+54dup
NM_000203.4:c.1524+53_1524+54dup	NP_000194.2:n.1524+53_1524+54dup
NR_110313.1:n.1612+53_1612+54dup
XM_006713882.2:c.1128+53_1128+54dup	XP_006713945.1:n.1128+53_1128+54dup
XM_011513459.1:c.1590+53_1590+54dup	XP_011511761.1:n.1590+53_1590+54dup
XM_011513460.1:c.1383+53_1383+54dup	XP_011511762.1:n.1383+53_1383+54dup
XM_011513461.1:c.1317+53_1317+54dup	XP_011511763.1:n.1317+53_1317+54dup
XM_011513462.1:c.1236+53_1236+54dup	XP_011511764.1:n.1236+53_1236+54dup
XM_011513463.1:c.1236+53_1236+54dup	XP_011511765.1:n.1236+53_1236+54dup
XR_924947.1:n.1646_1647dup
NM_000203.5:c.1524+53_1524+54dup MANE Select	NP_000194.2:n.1524+53_1524+54dup
NM_001363576.1:c.1128+53_1128+54dup	NP_001350505.1:n.1128+53_1128+54dup
XM_011513461.2:c.1317+53_1317+54dup	XP_011511763.1:n.1317+53_1317+54dup
XM_017008163.1:c.564+53_564+54dup	XP_016863652.1:n.564+53_564+54dup