Canonical Allele Identifier: CA2578013985

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002800-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002801_1002802del , CM000666.2:g.1002801_1002802del	GRCh38
NC_000004.11:g.996589_996590del , CM000666.1:g.996589_996590del	GRCh37
NC_000004.10:g.986589_986590del	NCBI36
NG_008103.1:g.20805_20806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1259_1260del	ENSP00000247933.4:p.Val420AlafsTer?
ENST00000514224.2:c.1259_1260del MANE Select	ENSP00000425081.2:p.Val420AlafsTer?
ENST00000652070.1:n.1315_1316del
ENST00000247933.8:c.1259_1260del	ENSP00000247933.4:p.Val420AlafsTer?
ENST00000502829.1:n.61_62del
ENST00000514224.1:c.863_864del	ENSP00000425081.1:p.Val288AlafsTer?
ENST00000514698.5:n.1366_1367del
NM_000203.4:c.1259_1260del	NP_000194.2:p.Val420AlafsTer?
NR_110313.1:n.1347_1348del
XM_006713882.2:c.863_864del	XP_006713945.1:p.Val288AlafsTer?
XM_011513459.1:c.1325_1326del	XP_011511761.1:p.Val442AlafsTer?
XM_011513460.1:c.1118_1119del	XP_011511762.1:p.Val373AlafsTer?
XM_011513461.1:c.1052_1053del	XP_011511763.1:p.Val351AlafsTer?
XM_011513462.1:c.971_972del	XP_011511764.1:p.Val324AlafsTer?
XM_011513463.1:c.971_972del	XP_011511765.1:p.Val324AlafsTer?
XR_924947.1:n.1328_1329del
NM_000203.5:c.1259_1260del MANE Select	NP_000194.2:p.Val420AlafsTer?
NM_001363576.1:c.863_864del	NP_001350505.1:p.Val288AlafsTer?
XM_011513461.2:c.1052_1053del	XP_011511763.1:p.Val351AlafsTer?
XM_017008163.1:c.299_300del	XP_016863652.1:p.Val100AlafsTer?