Canonical Allele Identifier: CA784341160

Gene: IDUA

Linked Data

• dbSNP Id: rs756443835
• MyVariant Identifiers: chr4:g.997329_997330insC (hg19) ; chr4:g.1003541_1003542insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003546dup , CM000666.2:g.1003546dup	GRCh38
NC_000004.11:g.997334dup , CM000666.1:g.997334dup	GRCh37
NC_000004.10:g.987334dup	NCBI36
NG_008103.1:g.21550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1651-3dup	ENSP00000247933.4:n.1651-3dup
ENST00000514224.2:c.1651-3dup MANE Select	ENSP00000425081.2:n.1651-3dup
ENST00000652070.1:n.1707-3dup
ENST00000247933.8:c.1651-3dup	ENSP00000247933.4:n.1651-3dup
ENST00000514224.1:c.1255-3dup	ENSP00000425081.1:n.1255-3dup
ENST00000514417.1:n.43-3dup
ENST00000514698.5:n.1758-3dup
NM_000203.4:c.1651-3dup	NP_000194.2:n.1651-3dup
NR_110313.1:n.1739-3dup
XM_006713882.2:c.1255-3dup	XP_006713945.1:n.1255-3dup
XM_011513459.1:c.1717-3dup	XP_011511761.1:n.1717-3dup
XM_011513460.1:c.1510-3dup	XP_011511762.1:n.1510-3dup
XM_011513461.1:c.1444-3dup	XP_011511763.1:n.1444-3dup
XM_011513462.1:c.1363-3dup	XP_011511764.1:n.1363-3dup
XM_011513463.1:c.1363-3dup	XP_011511765.1:n.1363-3dup
XR_924947.1:n.1907-3dup
NM_000203.5:c.1651-3dup MANE Select	NP_000194.2:n.1651-3dup
NM_001363576.1:c.1255-3dup	NP_001350505.1:n.1255-3dup
XM_011513461.2:c.1444-3dup	XP_011511763.1:n.1444-3dup
XM_017008163.1:c.691-3dup	XP_016863652.1:n.691-3dup