Canonical Allele Identifier: CA2802299

Gene: IDUA

Linked Data

• ClinVar Variation Id: 546196
• ClinVar RCV Id: RCV000658039 ; RCV001079248
• dbSNP Id: rs762593235
• ExAC: 4:997127 G / GC
• gnomAD v2: 4-997127-G-GC
• gnomAD v3: 4-1003339-G-GC
• gnomAD v4: 4-1003339-G-GC
• MyVariant Identifiers: chr4:g.997130dup (hg19) ; chr4:g.997127_997128insC (hg19) ; chr4:g.1003342dup (hg38) ; chr4:g.1003339_1003340insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003342dup , CM000666.2:g.1003342dup	GRCh38
NC_000004.11:g.997130dup , CM000666.1:g.997130dup	GRCh37
NC_000004.10:g.987130dup	NCBI36
NG_008103.1:g.21346dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1525-3dup	ENSP00000247933.4:n.1525-3dup
ENST00000514224.2:c.1525-3dup MANE Select	ENSP00000425081.2:n.1525-3dup
ENST00000652070.1:n.1581-3dup
ENST00000247933.8:c.1525-3dup	ENSP00000247933.4:n.1525-3dup
ENST00000502829.1:n.511dup
ENST00000514224.1:c.1129-3dup	ENSP00000425081.1:n.1129-3dup
ENST00000514698.5:n.1632-3dup
NM_000203.4:c.1525-3dup	NP_000194.2:n.1525-3dup
NR_110313.1:n.1613-3dup
XM_006713882.2:c.1129-3dup	XP_006713945.1:n.1129-3dup
XM_011513459.1:c.1591-3dup	XP_011511761.1:n.1591-3dup
XM_011513460.1:c.1384-3dup	XP_011511762.1:n.1384-3dup
XM_011513461.1:c.1318-3dup	XP_011511763.1:n.1318-3dup
XM_011513462.1:c.1237-3dup	XP_011511764.1:n.1237-3dup
XM_011513463.1:c.1237-3dup	XP_011511765.1:n.1237-3dup
XR_924947.1:n.1778dup
NM_000203.5:c.1525-3dup MANE Select	NP_000194.2:n.1525-3dup
NM_001363576.1:c.1129-3dup	NP_001350505.1:n.1129-3dup
XM_011513461.2:c.1318-3dup	XP_011511763.1:n.1318-3dup
XM_017008163.1:c.565-3dup	XP_016863652.1:n.565-3dup