Canonical Allele Identifier: CA2578014079

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003222_1003223dup , CM000666.2:g.1003222_1003223dup	GRCh38
NC_000004.11:g.997010_997011dup , CM000666.1:g.997010_997011dup	GRCh37
NC_000004.10:g.987010_987011dup	NCBI36
NG_008103.1:g.21226_21227dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+65_1524+66dup	ENSP00000247933.4:n.1524+65_1524+66dup
ENST00000514224.2:c.1524+65_1524+66dup MANE Select	ENSP00000425081.2:n.1524+65_1524+66dup
ENST00000652070.1:n.1580+65_1580+66dup
ENST00000247933.8:c.1524+65_1524+66dup	ENSP00000247933.4:n.1524+65_1524+66dup
ENST00000502829.1:n.391_392dup
ENST00000514224.1:c.1128+65_1128+66dup	ENSP00000425081.1:n.1128+65_1128+66dup
ENST00000514698.5:n.1631+65_1631+66dup
NM_000203.4:c.1524+65_1524+66dup	NP_000194.2:n.1524+65_1524+66dup
NR_110313.1:n.1612+65_1612+66dup
XM_006713882.2:c.1128+65_1128+66dup	XP_006713945.1:n.1128+65_1128+66dup
XM_011513459.1:c.1590+65_1590+66dup	XP_011511761.1:n.1590+65_1590+66dup
XM_011513460.1:c.1383+65_1383+66dup	XP_011511762.1:n.1383+65_1383+66dup
XM_011513461.1:c.1317+65_1317+66dup	XP_011511763.1:n.1317+65_1317+66dup
XM_011513462.1:c.1236+65_1236+66dup	XP_011511764.1:n.1236+65_1236+66dup
XM_011513463.1:c.1236+65_1236+66dup	XP_011511765.1:n.1236+65_1236+66dup
XR_924947.1:n.1658_1659dup
NM_000203.5:c.1524+65_1524+66dup MANE Select	NP_000194.2:n.1524+65_1524+66dup
NM_001363576.1:c.1128+65_1128+66dup	NP_001350505.1:n.1128+65_1128+66dup
XM_011513461.2:c.1317+65_1317+66dup	XP_011511763.1:n.1317+65_1317+66dup
XM_017008163.1:c.564+65_564+66dup	XP_016863652.1:n.564+65_564+66dup