Canonical Allele Identifier: CA913108035

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995851dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002063dup , CM000666.2:g.1002063dup	GRCh38
NC_000004.11:g.995851dup , CM000666.1:g.995851dup	GRCh37
NC_000004.10:g.985851dup	NCBI36
NG_008103.1:g.20067dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.874dup	ENSP00000247933.4:p.Asp292GlyfsTer?
ENST00000514224.2:c.874dup MANE Select	ENSP00000425081.2:p.Asp292GlyfsTer?
ENST00000652070.1:n.930dup
ENST00000247933.8:c.874dup	ENSP00000247933.4:p.Asp292GlyfsTer?
ENST00000514192.5:c.691dup	ENSP00000423685.1:p.Asp231GlyfsTer?
ENST00000514224.1:c.478dup	ENSP00000425081.1:p.Asp160GlyfsTer?
ENST00000514698.5:n.874dup
NM_000203.4:c.874dup	NP_000194.2:p.Asp292GlyfsTer?
NR_110313.1:n.962dup
XM_006713882.2:c.478dup	XP_006713945.1:p.Asp160GlyfsTer?
XM_011513459.1:c.833dup	XP_011511761.1:p.His279ThrfsTer25
XM_011513460.1:c.733dup	XP_011511762.1:p.Asp245GlyfsTer?
XM_011513461.1:c.667dup	XP_011511763.1:p.Asp223GlyfsTer?
XM_011513462.1:c.586dup	XP_011511764.1:p.Asp196GlyfsTer?
XM_011513463.1:c.586dup	XP_011511765.1:p.Asp196GlyfsTer?
XR_924947.1:n.943dup
NM_000203.5:c.874dup MANE Select	NP_000194.2:p.Asp292GlyfsTer?
NM_001363576.1:c.478dup	NP_001350505.1:p.Asp160GlyfsTer?
XM_011513461.2:c.667dup	XP_011511763.1:p.Asp223GlyfsTer?
XM_017008163.1:c.-87dup	XP_016863652.1:n.-87dup