Canonical Allele Identifier: CA2669482194

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002696-GACCCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002697_1002703del , CM000666.2:g.1002697_1002703del	GRCh38
NC_000004.11:g.996485_996491del , CM000666.1:g.996485_996491del	GRCh37
NC_000004.10:g.986485_986491del	NCBI36
NG_008103.1:g.20701_20707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-35_1190-29del	ENSP00000247933.4:n.1190-35_1190-29del
ENST00000514224.2:c.1190-35_1190-29del MANE Select	ENSP00000425081.2:n.1190-35_1190-29del
ENST00000652070.1:n.1246-35_1246-29del
ENST00000247933.8:c.1190-35_1190-29del	ENSP00000247933.4:n.1190-35_1190-29del
ENST00000514224.1:c.794-35_794-29del	ENSP00000425081.1:n.794-35_794-29del
ENST00000514698.5:n.1297-35_1297-29del
NM_000203.4:c.1190-35_1190-29del	NP_000194.2:n.1190-35_1190-29del
NR_110313.1:n.1278-35_1278-29del
XM_006713882.2:c.794-35_794-29del	XP_006713945.1:n.794-35_794-29del
XM_011513459.1:c.1256-35_1256-29del	XP_011511761.1:n.1256-35_1256-29del
XM_011513460.1:c.1049-35_1049-29del	XP_011511762.1:n.1049-35_1049-29del
XM_011513461.1:c.983-35_983-29del	XP_011511763.1:n.983-35_983-29del
XM_011513462.1:c.902-35_902-29del	XP_011511764.1:n.902-35_902-29del
XM_011513463.1:c.902-35_902-29del	XP_011511765.1:n.902-35_902-29del
XR_924947.1:n.1259-35_1259-29del
NM_000203.5:c.1190-35_1190-29del MANE Select	NP_000194.2:n.1190-35_1190-29del
NM_001363576.1:c.794-35_794-29del	NP_001350505.1:n.794-35_794-29del
XM_011513461.2:c.983-35_983-29del	XP_011511763.1:n.983-35_983-29del
XM_017008163.1:c.230-35_230-29del	XP_016863652.1:n.230-35_230-29del