Canonical Allele Identifier: CA2802079

Gene: IDUA

Linked Data

• dbSNP Id: rs749968809
• ExAC: 4:995647 AC / A
• gnomAD v2: 4-995647-AC-A
• MyVariant Identifiers: chr4:g.995648del (hg19) ; chr4:g.1001860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001860del , CM000666.2:g.1001860del	GRCh38
NC_000004.11:g.995648del , CM000666.1:g.995648del	GRCh37
NC_000004.10:g.985648del	NCBI36
NG_008103.1:g.19864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.771del	ENSP00000247933.4:p.Tyr258ThrfsTer?
ENST00000514224.2:c.771del MANE Select	ENSP00000425081.2:p.Tyr258ThrfsTer?
ENST00000652070.1:n.827del
ENST00000247933.8:c.771del	ENSP00000247933.4:p.Tyr258ThrfsTer?
ENST00000502910.5:c.630del	ENSP00000422952.1:p.Tyr211ThrfsTer?
ENST00000514192.5:c.588del	ENSP00000423685.1:p.Tyr197ThrfsTer?
ENST00000514224.1:c.375del	ENSP00000425081.1:p.Tyr126ThrfsTer?
ENST00000514698.5:n.671del
NM_000203.4:c.771del	NP_000194.2:p.Tyr258ThrfsTer?
NR_110313.1:n.859del
XM_006713882.2:c.375del	XP_006713945.1:p.Tyr126ThrfsTer?
XM_011513459.1:c.630del	XP_011511761.1:p.Tyr211ThrfsTer?
XM_011513460.1:c.630del	XP_011511762.1:p.Tyr211ThrfsTer?
XM_011513461.1:c.564del	XP_011511763.1:p.Tyr189ThrfsTer?
XM_011513462.1:c.483del	XP_011511764.1:p.Tyr162ThrfsTer?
XM_011513463.1:c.483del	XP_011511765.1:p.Tyr162ThrfsTer?
XR_924947.1:n.840del
NM_000203.5:c.771del MANE Select	NP_000194.2:p.Tyr258ThrfsTer?
NM_001363576.1:c.375del	NP_001350505.1:p.Tyr126ThrfsTer?
XM_011513461.2:c.564del	XP_011511763.1:p.Tyr189ThrfsTer?
XM_017008163.1:c.-190del	XP_016863652.1:n.-190del