Canonical Allele Identifier: CA2669482164

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002681-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002685_1002687del , CM000666.2:g.1002685_1002687del	GRCh38
NC_000004.11:g.996473_996475del , CM000666.1:g.996473_996475del	GRCh37
NC_000004.10:g.986473_986475del	NCBI36
NG_008103.1:g.20689_20691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-47_1190-45del	ENSP00000247933.4:n.1190-47_1190-45del
ENST00000514224.2:c.1190-47_1190-45del MANE Select	ENSP00000425081.2:n.1190-47_1190-45del
ENST00000652070.1:n.1246-47_1246-45del
ENST00000247933.8:c.1190-47_1190-45del	ENSP00000247933.4:n.1190-47_1190-45del
ENST00000514224.1:c.794-47_794-45del	ENSP00000425081.1:n.794-47_794-45del
ENST00000514698.5:n.1297-47_1297-45del
NM_000203.4:c.1190-47_1190-45del	NP_000194.2:n.1190-47_1190-45del
NR_110313.1:n.1278-47_1278-45del
XM_006713882.2:c.794-47_794-45del	XP_006713945.1:n.794-47_794-45del
XM_011513459.1:c.1256-47_1256-45del	XP_011511761.1:n.1256-47_1256-45del
XM_011513460.1:c.1049-47_1049-45del	XP_011511762.1:n.1049-47_1049-45del
XM_011513461.1:c.983-47_983-45del	XP_011511763.1:n.983-47_983-45del
XM_011513462.1:c.902-47_902-45del	XP_011511764.1:n.902-47_902-45del
XM_011513463.1:c.902-47_902-45del	XP_011511765.1:n.902-47_902-45del
XR_924947.1:n.1259-47_1259-45del
NM_000203.5:c.1190-47_1190-45del MANE Select	NP_000194.2:n.1190-47_1190-45del
NM_001363576.1:c.794-47_794-45del	NP_001350505.1:n.794-47_794-45del
XM_011513461.2:c.983-47_983-45del	XP_011511763.1:n.983-47_983-45del
XM_017008163.1:c.230-47_230-45del	XP_016863652.1:n.230-47_230-45del