Canonical Allele Identifier: CA2669480202

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001938-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001939_1001941del , CM000666.2:g.1001939_1001941del	GRCh38
NC_000004.11:g.995727_995729del , CM000666.1:g.995727_995729del	GRCh37
NC_000004.10:g.985727_985729del	NCBI36
NG_008103.1:g.19943_19945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-43_793-41del	ENSP00000247933.4:n.793-43_793-41del
ENST00000514224.2:c.793-43_793-41del MANE Select	ENSP00000425081.2:n.793-43_793-41del
ENST00000652070.1:n.849-43_849-41del
ENST00000247933.8:c.793-43_793-41del	ENSP00000247933.4:n.793-43_793-41del
ENST00000502910.5:c.652-43_652-41del	ENSP00000422952.1:n.652-43_652-41del
ENST00000514192.5:c.610-43_610-41del	ENSP00000423685.1:n.610-43_610-41del
ENST00000514224.1:c.397-43_397-41del	ENSP00000425081.1:n.397-43_397-41del
ENST00000514698.5:n.750_752del
NM_000203.4:c.793-43_793-41del	NP_000194.2:n.793-43_793-41del
NR_110313.1:n.881-43_881-41del
XM_006713882.2:c.397-43_397-41del	XP_006713945.1:n.397-43_397-41del
XM_011513459.1:c.709_711del	XP_011511761.1:p.Gly237del
XM_011513460.1:c.652-43_652-41del	XP_011511762.1:n.652-43_652-41del
XM_011513461.1:c.586-43_586-41del	XP_011511763.1:n.586-43_586-41del
XM_011513462.1:c.505-43_505-41del	XP_011511764.1:n.505-43_505-41del
XM_011513463.1:c.505-43_505-41del	XP_011511765.1:n.505-43_505-41del
XR_924947.1:n.862-43_862-41del
NM_000203.5:c.793-43_793-41del MANE Select	NP_000194.2:n.793-43_793-41del
NM_001363576.1:c.397-43_397-41del	NP_001350505.1:n.397-43_397-41del
XM_011513461.2:c.586-43_586-41del	XP_011511763.1:n.586-43_586-41del
XM_017008163.1:c.-168-43_-168-41del	XP_016863652.1:n.-168-43_-168-41del