Canonical Allele Identifier: CA91169800

Gene: IDUA

Linked Data

• dbSNP Id: rs963812531
• gnomAD v3: 4-1002717-C-CT
• gnomAD v4: 4-1002717-C-CT
• MyVariant Identifiers: chr4:g.996505_996506insT (hg19) ; chr4:g.1002717_1002718insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002717_1002718insT , CM000666.2:g.1002717_1002718insT	GRCh38
NC_000004.11:g.996505_996506insT , CM000666.1:g.996505_996506insT	GRCh37
NC_000004.10:g.986505_986506insT	NCBI36
NG_008103.1:g.20721_20722insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-15_1190-14insT	ENSP00000247933.4:n.1190-15_1190-14insT
ENST00000514224.2:c.1190-15_1190-14insT MANE Select	ENSP00000425081.2:n.1190-15_1190-14insT
ENST00000652070.1:n.1246-15_1246-14insT
ENST00000247933.8:c.1190-15_1190-14insT	ENSP00000247933.4:n.1190-15_1190-14insT
ENST00000514224.1:c.794-15_794-14insT	ENSP00000425081.1:n.794-15_794-14insT
ENST00000514698.5:n.1297-15_1297-14insT
NM_000203.4:c.1190-15_1190-14insT	NP_000194.2:n.1190-15_1190-14insT
NR_110313.1:n.1278-15_1278-14insT
XM_006713882.2:c.794-15_794-14insT	XP_006713945.1:n.794-15_794-14insT
XM_011513459.1:c.1256-15_1256-14insT	XP_011511761.1:n.1256-15_1256-14insT
XM_011513460.1:c.1049-15_1049-14insT	XP_011511762.1:n.1049-15_1049-14insT
XM_011513461.1:c.983-15_983-14insT	XP_011511763.1:n.983-15_983-14insT
XM_011513462.1:c.902-15_902-14insT	XP_011511764.1:n.902-15_902-14insT
XM_011513463.1:c.902-15_902-14insT	XP_011511765.1:n.902-15_902-14insT
XR_924947.1:n.1259-15_1259-14insT
NM_000203.5:c.1190-15_1190-14insT MANE Select	NP_000194.2:n.1190-15_1190-14insT
NM_001363576.1:c.794-15_794-14insT	NP_001350505.1:n.794-15_794-14insT
XM_011513461.2:c.983-15_983-14insT	XP_011511763.1:n.983-15_983-14insT
XM_017008163.1:c.230-15_230-14insT	XP_016863652.1:n.230-15_230-14insT