Canonical Allele Identifier: CA784304393

Gene: IDUA

Linked Data

• dbSNP Id: rs756529806
• gnomAD v4: 4-1002186-GC-G
• MyVariant Identifiers: chr4:g.995975del (hg19) ; chr4:g.1002187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002192del , CM000666.2:g.1002192del	GRCh38
NC_000004.11:g.995980del , CM000666.1:g.995980del	GRCh37
NC_000004.10:g.985980del	NCBI36
NG_008103.1:g.20196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+31del	ENSP00000247933.4:n.972+31del
ENST00000514224.2:c.972+31del MANE Select	ENSP00000425081.2:n.972+31del
ENST00000652070.1:n.1028+31del
ENST00000247933.8:c.972+31del	ENSP00000247933.4:n.972+31del
ENST00000514224.1:c.576+31del	ENSP00000425081.1:n.576+31del
ENST00000514698.5:n.1003del
NM_000203.4:c.972+31del	NP_000194.2:n.972+31del
NR_110313.1:n.1060+31del
XM_006713882.2:c.576+31del	XP_006713945.1:n.576+31del
XM_011513459.1:c.962del	XP_011511761.1:p.Pro321ArgfsTer?
XM_011513460.1:c.831+31del	XP_011511762.1:n.831+31del
XM_011513461.1:c.765+31del	XP_011511763.1:n.765+31del
XM_011513462.1:c.684+31del	XP_011511764.1:n.684+31del
XM_011513463.1:c.684+31del	XP_011511765.1:n.684+31del
XR_924947.1:n.1041+31del
NM_000203.5:c.972+31del MANE Select	NP_000194.2:n.972+31del
NM_001363576.1:c.576+31del	NP_001350505.1:n.576+31del
XM_011513461.2:c.765+31del	XP_011511763.1:n.765+31del
XM_017008163.1:c.12+31del	XP_016863652.1:n.12+31del