Canonical Allele Identifier: CA2669482411

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002719-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002719_1002720insA , CM000666.2:g.1002719_1002720insA	GRCh38
NC_000004.11:g.996507_996508insA , CM000666.1:g.996507_996508insA	GRCh37
NC_000004.10:g.986507_986508insA	NCBI36
NG_008103.1:g.20723_20724insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-13_1190-12insA	ENSP00000247933.4:n.1190-13_1190-12insA
ENST00000514224.2:c.1190-13_1190-12insA MANE Select	ENSP00000425081.2:n.1190-13_1190-12insA
ENST00000652070.1:n.1246-13_1246-12insA
ENST00000247933.8:c.1190-13_1190-12insA	ENSP00000247933.4:n.1190-13_1190-12insA
ENST00000514224.1:c.794-13_794-12insA	ENSP00000425081.1:n.794-13_794-12insA
ENST00000514698.5:n.1297-13_1297-12insA
NM_000203.4:c.1190-13_1190-12insA	NP_000194.2:n.1190-13_1190-12insA
NR_110313.1:n.1278-13_1278-12insA
XM_006713882.2:c.794-13_794-12insA	XP_006713945.1:n.794-13_794-12insA
XM_011513459.1:c.1256-13_1256-12insA	XP_011511761.1:n.1256-13_1256-12insA
XM_011513460.1:c.1049-13_1049-12insA	XP_011511762.1:n.1049-13_1049-12insA
XM_011513461.1:c.983-13_983-12insA	XP_011511763.1:n.983-13_983-12insA
XM_011513462.1:c.902-13_902-12insA	XP_011511764.1:n.902-13_902-12insA
XM_011513463.1:c.902-13_902-12insA	XP_011511765.1:n.902-13_902-12insA
XR_924947.1:n.1259-13_1259-12insA
NM_000203.5:c.1190-13_1190-12insA MANE Select	NP_000194.2:n.1190-13_1190-12insA
NM_001363576.1:c.794-13_794-12insA	NP_001350505.1:n.794-13_794-12insA
XM_011513461.2:c.983-13_983-12insA	XP_011511763.1:n.983-13_983-12insA
XM_017008163.1:c.230-13_230-12insA	XP_016863652.1:n.230-13_230-12insA