Canonical Allele Identifier: CA784341156

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2975586
• ClinVar RCV Id: RCV003833672
• dbSNP Id: rs1342639682
• gnomAD v3: 4-1003537-T-TC
• gnomAD v4: 4-1003537-T-TC
• MyVariant Identifiers: chr4:g.997325_997326insC (hg19) ; chr4:g.1003537_1003538insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003540dup , CM000666.2:g.1003540dup	GRCh38
NC_000004.11:g.997328dup , CM000666.1:g.997328dup	GRCh37
NC_000004.10:g.987328dup	NCBI36
NG_008103.1:g.21544dup

Transcript Alleles

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