Canonical Allele Identifier: CA2669482449

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002795-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002798del , CM000666.2:g.1002798del	GRCh38
NC_000004.11:g.996586del , CM000666.1:g.996586del	GRCh37
NC_000004.10:g.986586del	NCBI36
NG_008103.1:g.20802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1256del	ENSP00000247933.4:p.Gly419AlafsTer21
ENST00000514224.2:c.1256del MANE Select	ENSP00000425081.2:p.Gly419AlafsTer21
ENST00000652070.1:n.1312del
ENST00000247933.8:c.1256del	ENSP00000247933.4:p.Gly419AlafsTer21
ENST00000502829.1:n.58del
ENST00000514224.1:c.860del	ENSP00000425081.1:p.Gly287AlafsTer21
ENST00000514698.5:n.1363del
NM_000203.4:c.1256del	NP_000194.2:p.Gly419AlafsTer21
NR_110313.1:n.1344del
XM_006713882.2:c.860del	XP_006713945.1:p.Gly287AlafsTer21
XM_011513459.1:c.1322del	XP_011511761.1:p.Gly441AlafsTer21
XM_011513460.1:c.1115del	XP_011511762.1:p.Gly372AlafsTer21
XM_011513461.1:c.1049del	XP_011511763.1:p.Gly350AlafsTer21
XM_011513462.1:c.968del	XP_011511764.1:p.Gly323AlafsTer21
XM_011513463.1:c.968del	XP_011511765.1:p.Gly323AlafsTer21
XR_924947.1:n.1325del
NM_000203.5:c.1256del MANE Select	NP_000194.2:p.Gly419AlafsTer21
NM_001363576.1:c.860del	NP_001350505.1:p.Gly287AlafsTer21
XM_011513461.2:c.1049del	XP_011511763.1:p.Gly350AlafsTer21
XM_017008163.1:c.296del	XP_016863652.1:p.Gly99AlafsTer21