Canonical Allele Identifier: CA2697557056

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2689232
• ClinVar RCV Id: RCV003487914 ; RCV003755047

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003142_1003144del , CM000666.2:g.1003142_1003144del	GRCh38
NC_000004.11:g.996930_996932del , CM000666.1:g.996930_996932del	GRCh37
NC_000004.10:g.986930_986932del	NCBI36
NG_008103.1:g.21146_21148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1509_1511del	ENSP00000247933.4:p.Met504del
ENST00000514224.2:c.1509_1511del MANE Select	ENSP00000425081.2:p.Met504del
ENST00000652070.1:n.1565_1567del
ENST00000247933.8:c.1509_1511del	ENSP00000247933.4:p.Met504del
ENST00000502829.1:n.311_313del
ENST00000514224.1:c.1113_1115del	ENSP00000425081.1:p.Met372del
ENST00000514698.5:n.1616_1618del
NM_000203.4:c.1509_1511del	NP_000194.2:p.Met504del
NR_110313.1:n.1597_1599del
XM_006713882.2:c.1113_1115del	XP_006713945.1:p.Met372del
XM_011513459.1:c.1575_1577del	XP_011511761.1:p.Met526del
XM_011513460.1:c.1368_1370del	XP_011511762.1:p.Met457del
XM_011513461.1:c.1302_1304del	XP_011511763.1:p.Met435del
XM_011513462.1:c.1221_1223del	XP_011511764.1:p.Met408del
XM_011513463.1:c.1221_1223del	XP_011511765.1:p.Met408del
XR_924947.1:n.1578_1580del
NM_000203.5:c.1509_1511del MANE Select	NP_000194.2:p.Met504del
NM_001363576.1:c.1113_1115del	NP_001350505.1:p.Met372del
XM_011513461.2:c.1302_1304del	XP_011511763.1:p.Met435del
XM_017008163.1:c.549_551del	XP_016863652.1:p.Met184del