Canonical Allele Identifier: CA2669480645

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002002-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002002_1002003insGG , CM000666.2:g.1002002_1002003insGG	GRCh38
NC_000004.11:g.995790_995791insGG , CM000666.1:g.995790_995791insGG	GRCh37
NC_000004.10:g.985790_985791insGG	NCBI36
NG_008103.1:g.20006_20007insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.813_814insGG	ENSP00000247933.4:p.Ile272GlyfsTer?
ENST00000514224.2:c.813_814insGG MANE Select	ENSP00000425081.2:p.Ile272GlyfsTer?
ENST00000652070.1:n.869_870insGG
ENST00000247933.8:c.813_814insGG	ENSP00000247933.4:p.Ile272GlyfsTer?
ENST00000502910.5:c.672_673insGG
ENST00000514192.5:c.630_631insGG	ENSP00000423685.1:p.Ile211GlyfsTer?
ENST00000514224.1:c.417_418insGG	ENSP00000425081.1:p.Ile140GlyfsTer?
ENST00000514698.5:n.813_814insGG
NM_000203.4:c.813_814insGG	NP_000194.2:p.Ile272GlyfsTer?
NR_110313.1:n.901_902insGG
XM_006713882.2:c.417_418insGG	XP_006713945.1:p.Ile140GlyfsTer?
XM_011513459.1:c.772_773insGG	XP_011511761.1:p.His258ArgfsTer?
XM_011513460.1:c.672_673insGG	XP_011511762.1:p.Ile225GlyfsTer?
XM_011513461.1:c.606_607insGG	XP_011511763.1:p.Ile203GlyfsTer?
XM_011513462.1:c.525_526insGG	XP_011511764.1:p.Ile176GlyfsTer?
XM_011513463.1:c.525_526insGG	XP_011511765.1:p.Ile176GlyfsTer?
XR_924947.1:n.882_883insGG
NM_000203.5:c.813_814insGG MANE Select	NP_000194.2:p.Ile272GlyfsTer?
NM_001363576.1:c.417_418insGG	NP_001350505.1:p.Ile140GlyfsTer?
XM_011513461.2:c.606_607insGG	XP_011511763.1:p.Ile203GlyfsTer?
XM_017008163.1:c.-148_-147insGG	XP_016863652.1:n.-148_-147insGG