Canonical Allele Identifier: CA2669481362

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002181-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002186_1002187del , CM000666.2:g.1002186_1002187del	GRCh38
NC_000004.11:g.995974_995975del , CM000666.1:g.995974_995975del	GRCh37
NC_000004.10:g.985974_985975del	NCBI36
NG_008103.1:g.20190_20191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+25_972+26del	ENSP00000247933.4:n.972+25_972+26del
ENST00000514224.2:c.972+25_972+26del MANE Select	ENSP00000425081.2:n.972+25_972+26del
ENST00000652070.1:n.1028+25_1028+26del
ENST00000247933.8:c.972+25_972+26del	ENSP00000247933.4:n.972+25_972+26del
ENST00000514224.1:c.576+25_576+26del	ENSP00000425081.1:n.576+25_576+26del
ENST00000514698.5:n.997_998del
NM_000203.4:c.972+25_972+26del	NP_000194.2:n.972+25_972+26del
NR_110313.1:n.1060+25_1060+26del
XM_006713882.2:c.576+25_576+26del	XP_006713945.1:n.576+25_576+26del
XM_011513459.1:c.956_957del	XP_011511761.1:p.Arg319ProfsTer?
XM_011513460.1:c.831+25_831+26del	XP_011511762.1:n.831+25_831+26del
XM_011513461.1:c.765+25_765+26del	XP_011511763.1:n.765+25_765+26del
XM_011513462.1:c.684+25_684+26del	XP_011511764.1:n.684+25_684+26del
XM_011513463.1:c.684+25_684+26del	XP_011511765.1:n.684+25_684+26del
XR_924947.1:n.1041+25_1041+26del
NM_000203.5:c.972+25_972+26del MANE Select	NP_000194.2:n.972+25_972+26del
NM_001363576.1:c.576+25_576+26del	NP_001350505.1:n.576+25_576+26del
XM_011513461.2:c.765+25_765+26del	XP_011511763.1:n.765+25_765+26del
XM_017008163.1:c.12+25_12+26del	XP_016863652.1:n.12+25_12+26del