Canonical Allele Identifier: CA549264670

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2418926
• ClinVar RCV Id: RCV003112170
• dbSNP Id: rs1560548634
• gnomAD v2: 4-996508-C-CA
• gnomAD v3: 4-1002720-C-CA
• gnomAD v4: 4-1002720-C-CA
• MyVariant Identifiers: chr4:g.996508_996509insA (hg19) ; chr4:g.1002720_1002721insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002720_1002721insA , CM000666.2:g.1002720_1002721insA	GRCh38
NC_000004.11:g.996508_996509insA , CM000666.1:g.996508_996509insA	GRCh37
NC_000004.10:g.986508_986509insA	NCBI36
NG_008103.1:g.20724_20725insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-12_1190-11insA	ENSP00000247933.4:n.1190-12_1190-11insA
ENST00000514224.2:c.1190-12_1190-11insA MANE Select	ENSP00000425081.2:n.1190-12_1190-11insA
ENST00000652070.1:n.1246-12_1246-11insA
ENST00000247933.8:c.1190-12_1190-11insA	ENSP00000247933.4:n.1190-12_1190-11insA
ENST00000514224.1:c.794-12_794-11insA	ENSP00000425081.1:n.794-12_794-11insA
ENST00000514698.5:n.1297-12_1297-11insA
NM_000203.4:c.1190-12_1190-11insA	NP_000194.2:n.1190-12_1190-11insA
NR_110313.1:n.1278-12_1278-11insA
XM_006713882.2:c.794-12_794-11insA	XP_006713945.1:n.794-12_794-11insA
XM_011513459.1:c.1256-12_1256-11insA	XP_011511761.1:n.1256-12_1256-11insA
XM_011513460.1:c.1049-12_1049-11insA	XP_011511762.1:n.1049-12_1049-11insA
XM_011513461.1:c.983-12_983-11insA	XP_011511763.1:n.983-12_983-11insA
XM_011513462.1:c.902-12_902-11insA	XP_011511764.1:n.902-12_902-11insA
XM_011513463.1:c.902-12_902-11insA	XP_011511765.1:n.902-12_902-11insA
XR_924947.1:n.1259-12_1259-11insA
NM_000203.5:c.1190-12_1190-11insA MANE Select	NP_000194.2:n.1190-12_1190-11insA
NM_001363576.1:c.794-12_794-11insA	NP_001350505.1:n.794-12_794-11insA
XM_011513461.2:c.983-12_983-11insA	XP_011511763.1:n.983-12_983-11insA
XM_017008163.1:c.230-12_230-11insA	XP_016863652.1:n.230-12_230-11insA