Canonical Allele Identifier: CA2802221

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1600766
• ClinVar RCV Id: RCV002124677
• dbSNP Id: rs150523349
• ExAC: 4:996501 G / GCC
• gnomAD v2: 4-996501-G-GCC
• gnomAD v3: 4-1002713-G-GCC
• gnomAD v4: 4-1002713-G-GCC
• MyVariant Identifiers: chr4:g.996502_996503insCC (hg19) ; chr4:g.996501_996502insCC (hg19) ; chr4:g.1002714_1002715insCC (hg38) ; chr4:g.1002713_1002714insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002721_1002722dup , CM000666.2:g.1002721_1002722dup	GRCh38
NC_000004.11:g.996509_996510dup , CM000666.1:g.996509_996510dup	GRCh37
NC_000004.10:g.986509_986510dup	NCBI36
NG_008103.1:g.20725_20726dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-11_1190-10dup	ENSP00000247933.4:n.1190-11_1190-10dup
ENST00000514224.2:c.1190-11_1190-10dup MANE Select	ENSP00000425081.2:n.1190-11_1190-10dup
ENST00000652070.1:n.1246-11_1246-10dup
ENST00000247933.8:c.1190-11_1190-10dup	ENSP00000247933.4:n.1190-11_1190-10dup
ENST00000514224.1:c.794-11_794-10dup	ENSP00000425081.1:n.794-11_794-10dup
ENST00000514698.5:n.1297-11_1297-10dup
NM_000203.4:c.1190-11_1190-10dup	NP_000194.2:n.1190-11_1190-10dup
NR_110313.1:n.1278-11_1278-10dup
XM_006713882.2:c.794-11_794-10dup	XP_006713945.1:n.794-11_794-10dup
XM_011513459.1:c.1256-11_1256-10dup	XP_011511761.1:n.1256-11_1256-10dup
XM_011513460.1:c.1049-11_1049-10dup	XP_011511762.1:n.1049-11_1049-10dup
XM_011513461.1:c.983-11_983-10dup	XP_011511763.1:n.983-11_983-10dup
XM_011513462.1:c.902-11_902-10dup	XP_011511764.1:n.902-11_902-10dup
XM_011513463.1:c.902-11_902-10dup	XP_011511765.1:n.902-11_902-10dup
XR_924947.1:n.1259-11_1259-10dup
NM_000203.5:c.1190-11_1190-10dup MANE Select	NP_000194.2:n.1190-11_1190-10dup
NM_001363576.1:c.794-11_794-10dup	NP_001350505.1:n.794-11_794-10dup
XM_011513461.2:c.983-11_983-10dup	XP_011511763.1:n.983-11_983-10dup
XM_017008163.1:c.230-11_230-10dup	XP_016863652.1:n.230-11_230-10dup