Canonical Allele Identifier: CA784303871

Gene: IDUA

Linked Data

• dbSNP Id: rs1245703449
• gnomAD v3: 4-1001934-C-CCCCG
• gnomAD v4: 4-1001934-C-CCCCG
• MyVariant Identifiers: chr4:g.995722_995723insCCCG (hg19) ; chr4:g.1001934_1001935insCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001935_1001938dup , CM000666.2:g.1001935_1001938dup	GRCh38
NC_000004.11:g.995723_995726dup , CM000666.1:g.995723_995726dup	GRCh37
NC_000004.10:g.985723_985726dup	NCBI36
NG_008103.1:g.19939_19942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-47_793-44dup	ENSP00000247933.4:n.793-47_793-44dup
ENST00000514224.2:c.793-47_793-44dup MANE Select	ENSP00000425081.2:n.793-47_793-44dup
ENST00000652070.1:n.849-47_849-44dup
ENST00000247933.8:c.793-47_793-44dup	ENSP00000247933.4:n.793-47_793-44dup
ENST00000502910.5:c.652-47_652-44dup	ENSP00000422952.1:n.652-47_652-44dup
ENST00000514192.5:c.610-47_610-44dup	ENSP00000423685.1:n.610-47_610-44dup
ENST00000514224.1:c.397-47_397-44dup	ENSP00000425081.1:n.397-47_397-44dup
ENST00000514698.5:n.746_749dup
NM_000203.4:c.793-47_793-44dup	NP_000194.2:n.793-47_793-44dup
NR_110313.1:n.881-47_881-44dup
XM_006713882.2:c.397-47_397-44dup	XP_006713945.1:n.397-47_397-44dup
XM_011513459.1:c.705_708dup	XP_011511761.1:p.Gly237ProfsTer5
XM_011513460.1:c.652-47_652-44dup	XP_011511762.1:n.652-47_652-44dup
XM_011513461.1:c.586-47_586-44dup	XP_011511763.1:n.586-47_586-44dup
XM_011513462.1:c.505-47_505-44dup	XP_011511764.1:n.505-47_505-44dup
XM_011513463.1:c.505-47_505-44dup	XP_011511765.1:n.505-47_505-44dup
XR_924947.1:n.862-47_862-44dup
NM_000203.5:c.793-47_793-44dup MANE Select	NP_000194.2:n.793-47_793-44dup
NM_001363576.1:c.397-47_397-44dup	NP_001350505.1:n.397-47_397-44dup
XM_011513461.2:c.586-47_586-44dup	XP_011511763.1:n.586-47_586-44dup
XM_017008163.1:c.-168-47_-168-44dup	XP_016863652.1:n.-168-47_-168-44dup