Canonical Allele Identifier: CA784340579

Gene: IDUA

Linked Data

• dbSNP Id: rs1333308320
• gnomAD v3: 4-1003219-C-CG
• gnomAD v4: 4-1003219-C-CG
• MyVariant Identifiers: chr4:g.997007_997008insG (hg19) ; chr4:g.1003219_1003220insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003223dup , CM000666.2:g.1003223dup	GRCh38
NC_000004.11:g.997011dup , CM000666.1:g.997011dup	GRCh37
NC_000004.10:g.987011dup	NCBI36
NG_008103.1:g.21227dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+66dup	ENSP00000247933.4:n.1524+66dup
ENST00000514224.2:c.1524+66dup MANE Select	ENSP00000425081.2:n.1524+66dup
ENST00000652070.1:n.1580+66dup
ENST00000247933.8:c.1524+66dup	ENSP00000247933.4:n.1524+66dup
ENST00000502829.1:n.392dup
ENST00000514224.1:c.1128+66dup	ENSP00000425081.1:n.1128+66dup
ENST00000514698.5:n.1631+66dup
NM_000203.4:c.1524+66dup	NP_000194.2:n.1524+66dup
NR_110313.1:n.1612+66dup
XM_006713882.2:c.1128+66dup	XP_006713945.1:n.1128+66dup
XM_011513459.1:c.1590+66dup	XP_011511761.1:n.1590+66dup
XM_011513460.1:c.1383+66dup	XP_011511762.1:n.1383+66dup
XM_011513461.1:c.1317+66dup	XP_011511763.1:n.1317+66dup
XM_011513462.1:c.1236+66dup	XP_011511764.1:n.1236+66dup
XM_011513463.1:c.1236+66dup	XP_011511765.1:n.1236+66dup
XR_924947.1:n.1659dup
NM_000203.5:c.1524+66dup MANE Select	NP_000194.2:n.1524+66dup
NM_001363576.1:c.1128+66dup	NP_001350505.1:n.1128+66dup
XM_011513461.2:c.1317+66dup	XP_011511763.1:n.1317+66dup
XM_017008163.1:c.564+66dup	XP_016863652.1:n.564+66dup