Canonical Allele Identifier: CA2578013943

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002722-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002722_1002723insA , CM000666.2:g.1002722_1002723insA	GRCh38
NC_000004.11:g.996510_996511insA , CM000666.1:g.996510_996511insA	GRCh37
NC_000004.10:g.986510_986511insA	NCBI36
NG_008103.1:g.20726_20727insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-10_1190-9insA	ENSP00000247933.4:n.1190-10_1190-9insA
ENST00000514224.2:c.1190-10_1190-9insA MANE Select	ENSP00000425081.2:n.1190-10_1190-9insA
ENST00000652070.1:n.1246-10_1246-9insA
ENST00000247933.8:c.1190-10_1190-9insA	ENSP00000247933.4:n.1190-10_1190-9insA
ENST00000514224.1:c.794-10_794-9insA	ENSP00000425081.1:n.794-10_794-9insA
ENST00000514698.5:n.1297-10_1297-9insA
NM_000203.4:c.1190-10_1190-9insA	NP_000194.2:n.1190-10_1190-9insA
NR_110313.1:n.1278-10_1278-9insA
XM_006713882.2:c.794-10_794-9insA	XP_006713945.1:n.794-10_794-9insA
XM_011513459.1:c.1256-10_1256-9insA	XP_011511761.1:n.1256-10_1256-9insA
XM_011513460.1:c.1049-10_1049-9insA	XP_011511762.1:n.1049-10_1049-9insA
XM_011513461.1:c.983-10_983-9insA	XP_011511763.1:n.983-10_983-9insA
XM_011513462.1:c.902-10_902-9insA	XP_011511764.1:n.902-10_902-9insA
XM_011513463.1:c.902-10_902-9insA	XP_011511765.1:n.902-10_902-9insA
XR_924947.1:n.1259-10_1259-9insA
NM_000203.5:c.1190-10_1190-9insA MANE Select	NP_000194.2:n.1190-10_1190-9insA
NM_001363576.1:c.794-10_794-9insA	NP_001350505.1:n.794-10_794-9insA
XM_011513461.2:c.983-10_983-9insA	XP_011511763.1:n.983-10_983-9insA
XM_017008163.1:c.230-10_230-9insA	XP_016863652.1:n.230-10_230-9insA