Canonical Allele Identifier: CA2669482969

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003657-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003657_1003658insA , CM000666.2:g.1003657_1003658insA	GRCh38
NC_000004.11:g.997445_997446insA , CM000666.1:g.997445_997446insA	GRCh37
NC_000004.10:g.987445_987446insA	NCBI36
NG_008103.1:g.21661_21662insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+32_1727+33insA	ENSP00000247933.4:n.1727+32_1727+33insA
ENST00000514224.2:c.1727+32_1727+33insA MANE Select	ENSP00000425081.2:n.1727+32_1727+33insA
ENST00000652070.1:n.1783+32_1783+33insA
ENST00000247933.8:c.1727+32_1727+33insA	ENSP00000247933.4:n.1727+32_1727+33insA
ENST00000514224.1:c.1331+32_1331+33insA	ENSP00000425081.1:n.1331+32_1331+33insA
ENST00000514417.1:n.151_152insA
ENST00000514698.5:n.1838+28_1838+29insA
NM_000203.4:c.1727+32_1727+33insA	NP_000194.2:n.1727+32_1727+33insA
NR_110313.1:n.1819+28_1819+29insA
XM_006713882.2:c.1331+32_1331+33insA	XP_006713945.1:n.1331+32_1331+33insA
XM_011513459.1:c.1793+32_1793+33insA	XP_011511761.1:n.1793+32_1793+33insA
XM_011513460.1:c.1586+32_1586+33insA	XP_011511762.1:n.1586+32_1586+33insA
XM_011513461.1:c.1520+32_1520+33insA	XP_011511763.1:n.1520+32_1520+33insA
XM_011513462.1:c.1439+32_1439+33insA	XP_011511764.1:n.1439+32_1439+33insA
XM_011513463.1:c.1439+32_1439+33insA	XP_011511765.1:n.1439+32_1439+33insA
XR_924947.1:n.1987+28_1987+29insA
NM_000203.5:c.1727+32_1727+33insA MANE Select	NP_000194.2:n.1727+32_1727+33insA
NM_001363576.1:c.1331+32_1331+33insA	NP_001350505.1:n.1331+32_1331+33insA
XM_011513461.2:c.1520+32_1520+33insA	XP_011511763.1:n.1520+32_1520+33insA
XM_017008163.1:c.767+32_767+33insA	XP_016863652.1:n.767+32_767+33insA