Canonical Allele Identifier: CA2586965949

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2734638
• ClinVar RCV Id: RCV003593299
• gnomAD v4: 4-1002012-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002015_1002017del , CM000666.2:g.1002015_1002017del	GRCh38
NC_000004.11:g.995803_995805del , CM000666.1:g.995803_995805del	GRCh37
NC_000004.10:g.985803_985805del	NCBI36
NG_008103.1:g.20019_20021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.826_828del	ENSP00000247933.4:p.Glu276del
ENST00000514224.2:c.826_828del MANE Select	ENSP00000425081.2:p.Glu276del
ENST00000652070.1:n.882_884del
ENST00000247933.8:c.826_828del	ENSP00000247933.4:p.Glu276del
ENST00000514192.5:c.643_645del	ENSP00000423685.1:p.Glu215del
ENST00000514224.1:c.430_432del	ENSP00000425081.1:p.Glu144del
ENST00000514698.5:n.826_828del
NM_000203.4:c.826_828del	NP_000194.2:p.Glu276del
NR_110313.1:n.914_916del
XM_006713882.2:c.430_432del	XP_006713945.1:p.Glu144del
XM_011513459.1:c.785_787del	XP_011511761.1:p.Gly262del
XM_011513460.1:c.685_687del	XP_011511762.1:p.Glu229del
XM_011513461.1:c.619_621del	XP_011511763.1:p.Glu207del
XM_011513462.1:c.538_540del	XP_011511764.1:p.Glu180del
XM_011513463.1:c.538_540del	XP_011511765.1:p.Glu180del
XR_924947.1:n.895_897del
NM_000203.5:c.826_828del MANE Select	NP_000194.2:p.Glu276del
NM_001363576.1:c.430_432del	NP_001350505.1:p.Glu144del
XM_011513461.2:c.619_621del	XP_011511763.1:p.Glu207del
XM_017008163.1:c.-135_-133del	XP_016863652.1:n.-135_-133del