Canonical Allele Identifier: CA2669482232

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002711-C-CTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002711_1002712insTGGG , CM000666.2:g.1002711_1002712insTGGG	GRCh38
NC_000004.11:g.996499_996500insTGGG , CM000666.1:g.996499_996500insTGGG	GRCh37
NC_000004.10:g.986499_986500insTGGG	NCBI36
NG_008103.1:g.20715_20716insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-21_1190-20insTGGG	ENSP00000247933.4:n.1190-21_1190-20insTGGG
ENST00000514224.2:c.1190-21_1190-20insTGGG MANE Select	ENSP00000425081.2:n.1190-21_1190-20insTGGG
ENST00000652070.1:n.1246-21_1246-20insTGGG
ENST00000247933.8:c.1190-21_1190-20insTGGG	ENSP00000247933.4:n.1190-21_1190-20insTGGG
ENST00000514224.1:c.794-21_794-20insTGGG	ENSP00000425081.1:n.794-21_794-20insTGGG
ENST00000514698.5:n.1297-21_1297-20insTGGG
NM_000203.4:c.1190-21_1190-20insTGGG	NP_000194.2:n.1190-21_1190-20insTGGG
NR_110313.1:n.1278-21_1278-20insTGGG
XM_006713882.2:c.794-21_794-20insTGGG	XP_006713945.1:n.794-21_794-20insTGGG
XM_011513459.1:c.1256-21_1256-20insTGGG	XP_011511761.1:n.1256-21_1256-20insTGGG
XM_011513460.1:c.1049-21_1049-20insTGGG	XP_011511762.1:n.1049-21_1049-20insTGGG
XM_011513461.1:c.983-21_983-20insTGGG	XP_011511763.1:n.983-21_983-20insTGGG
XM_011513462.1:c.902-21_902-20insTGGG	XP_011511764.1:n.902-21_902-20insTGGG
XM_011513463.1:c.902-21_902-20insTGGG	XP_011511765.1:n.902-21_902-20insTGGG
XR_924947.1:n.1259-21_1259-20insTGGG
NM_000203.5:c.1190-21_1190-20insTGGG MANE Select	NP_000194.2:n.1190-21_1190-20insTGGG
NM_001363576.1:c.794-21_794-20insTGGG	NP_001350505.1:n.794-21_794-20insTGGG
XM_011513461.2:c.983-21_983-20insTGGG	XP_011511763.1:n.983-21_983-20insTGGG
XM_017008163.1:c.230-21_230-20insTGGG	XP_016863652.1:n.230-21_230-20insTGGG