Canonical Allele Identifier: CA2669482981

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003669-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003669_1003670insA , CM000666.2:g.1003669_1003670insA	GRCh38
NC_000004.11:g.997457_997458insA , CM000666.1:g.997457_997458insA	GRCh37
NC_000004.10:g.987457_987458insA	NCBI36
NG_008103.1:g.21673_21674insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+44_1727+45insA	ENSP00000247933.4:n.1727+44_1727+45insA
ENST00000514224.2:c.1727+44_1727+45insA MANE Select	ENSP00000425081.2:n.1727+44_1727+45insA
ENST00000652070.1:n.1783+44_1783+45insA
ENST00000247933.8:c.1727+44_1727+45insA	ENSP00000247933.4:n.1727+44_1727+45insA
ENST00000514224.1:c.1331+44_1331+45insA	ENSP00000425081.1:n.1331+44_1331+45insA
ENST00000514417.1:n.163_164insA
ENST00000514698.5:n.1838+40_1838+41insA
NM_000203.4:c.1727+44_1727+45insA	NP_000194.2:n.1727+44_1727+45insA
NR_110313.1:n.1819+40_1819+41insA
XM_006713882.2:c.1331+44_1331+45insA	XP_006713945.1:n.1331+44_1331+45insA
XM_011513459.1:c.1793+44_1793+45insA	XP_011511761.1:n.1793+44_1793+45insA
XM_011513460.1:c.1586+44_1586+45insA	XP_011511762.1:n.1586+44_1586+45insA
XM_011513461.1:c.1520+44_1520+45insA	XP_011511763.1:n.1520+44_1520+45insA
XM_011513462.1:c.1439+44_1439+45insA	XP_011511764.1:n.1439+44_1439+45insA
XM_011513463.1:c.1439+44_1439+45insA	XP_011511765.1:n.1439+44_1439+45insA
XR_924947.1:n.1987+40_1987+41insA
NM_000203.5:c.1727+44_1727+45insA MANE Select	NP_000194.2:n.1727+44_1727+45insA
NM_001363576.1:c.1331+44_1331+45insA	NP_001350505.1:n.1331+44_1331+45insA
XM_011513461.2:c.1520+44_1520+45insA	XP_011511763.1:n.1520+44_1520+45insA
XM_017008163.1:c.767+44_767+45insA	XP_016863652.1:n.767+44_767+45insA