Canonical Allele Identifier: CA645372299

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002820_1002826dup , CM000666.2:g.1002820_1002826dup	GRCh38
NC_000004.11:g.996608_996614dup , CM000666.1:g.996608_996614dup	GRCh37
NC_000004.10:g.986608_986614dup	NCBI36
NG_008103.1:g.20824_20830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1278_1284dup	ENSP00000247933.4:p.Gly429ProfsTer?
ENST00000514224.2:c.1278_1284dup MANE Select	ENSP00000425081.2:p.Gly429ProfsTer?
ENST00000652070.1:n.1334_1340dup
ENST00000247933.8:c.1278_1284dup	ENSP00000247933.4:p.Gly429ProfsTer?
ENST00000502829.1:n.80_86dup
ENST00000514224.1:c.882_888dup	ENSP00000425081.1:p.Gly297ProfsTer?
ENST00000514698.5:n.1385_1391dup
NM_000203.4:c.1278_1284dup	NP_000194.2:p.Gly429ProfsTer?
NR_110313.1:n.1366_1372dup
XM_006713882.2:c.882_888dup	XP_006713945.1:p.Gly297ProfsTer?
XM_011513459.1:c.1344_1350dup	XP_011511761.1:p.Gly451ProfsTer?
XM_011513460.1:c.1137_1143dup	XP_011511762.1:p.Gly382ProfsTer?
XM_011513461.1:c.1071_1077dup	XP_011511763.1:p.Gly360ProfsTer?
XM_011513462.1:c.990_996dup	XP_011511764.1:p.Gly333ProfsTer?
XM_011513463.1:c.990_996dup	XP_011511765.1:p.Gly333ProfsTer?
XR_924947.1:n.1347_1353dup
NM_000203.5:c.1278_1284dup MANE Select	NP_000194.2:p.Gly429ProfsTer?
NM_001363576.1:c.882_888dup	NP_001350505.1:p.Gly297ProfsTer?
XM_011513461.2:c.1071_1077dup	XP_011511763.1:p.Gly360ProfsTer?
XM_017008163.1:c.318_324dup	XP_016863652.1:p.Gly109ProfsTer?