Canonical Allele Identifier: CA2669482977

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003667-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003668_1003669dup , CM000666.2:g.1003668_1003669dup	GRCh38
NC_000004.11:g.997456_997457dup , CM000666.1:g.997456_997457dup	GRCh37
NC_000004.10:g.987456_987457dup	NCBI36
NG_008103.1:g.21672_21673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+43_1727+44dup	ENSP00000247933.4:n.1727+43_1727+44dup
ENST00000514224.2:c.1727+43_1727+44dup MANE Select	ENSP00000425081.2:n.1727+43_1727+44dup
ENST00000652070.1:n.1783+43_1783+44dup
ENST00000247933.8:c.1727+43_1727+44dup	ENSP00000247933.4:n.1727+43_1727+44dup
ENST00000514224.1:c.1331+43_1331+44dup	ENSP00000425081.1:n.1331+43_1331+44dup
ENST00000514417.1:n.162_163dup
ENST00000514698.5:n.1838+39_1838+40dup
NM_000203.4:c.1727+43_1727+44dup	NP_000194.2:n.1727+43_1727+44dup
NR_110313.1:n.1819+39_1819+40dup
XM_006713882.2:c.1331+43_1331+44dup	XP_006713945.1:n.1331+43_1331+44dup
XM_011513459.1:c.1793+43_1793+44dup	XP_011511761.1:n.1793+43_1793+44dup
XM_011513460.1:c.1586+43_1586+44dup	XP_011511762.1:n.1586+43_1586+44dup
XM_011513461.1:c.1520+43_1520+44dup	XP_011511763.1:n.1520+43_1520+44dup
XM_011513462.1:c.1439+43_1439+44dup	XP_011511764.1:n.1439+43_1439+44dup
XM_011513463.1:c.1439+43_1439+44dup	XP_011511765.1:n.1439+43_1439+44dup
XR_924947.1:n.1987+39_1987+40dup
NM_000203.5:c.1727+43_1727+44dup MANE Select	NP_000194.2:n.1727+43_1727+44dup
NM_001363576.1:c.1331+43_1331+44dup	NP_001350505.1:n.1331+43_1331+44dup
XM_011513461.2:c.1520+43_1520+44dup	XP_011511763.1:n.1520+43_1520+44dup
XM_017008163.1:c.767+43_767+44dup	XP_016863652.1:n.767+43_767+44dup