Canonical Allele Identifier: CA784341275

Gene: IDUA

Linked Data

• ClinVar Variation Id: 862097
• ClinVar RCV Id: RCV001068754
• dbSNP Id: rs1220371654
• gnomAD v4: 4-1003587-GCTGGTTCTGGT-G
• MyVariant Identifiers: chr4:g.997376_997386del (hg19) ; chr4:g.1003588_1003598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003593_1003603del , CM000666.2:g.1003593_1003603del	GRCh38
NC_000004.11:g.997381_997391del , CM000666.1:g.997381_997391del	GRCh37
NC_000004.10:g.987381_987391del	NCBI36
NG_008103.1:g.21597_21607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1695_1705del	ENSP00000247933.4:p.Leu566GlyfsTer2
ENST00000514224.2:c.1695_1705del MANE Select	ENSP00000425081.2:p.Leu566GlyfsTer2
ENST00000652070.1:n.1751_1761del
ENST00000247933.8:c.1695_1705del	ENSP00000247933.4:p.Leu566GlyfsTer2
ENST00000514224.1:c.1299_1309del	ENSP00000425081.1:p.Leu434GlyfsTer2
ENST00000514417.1:n.87_97del
ENST00000514698.5:n.1802_1812del
NM_000203.4:c.1695_1705del	NP_000194.2:p.Leu566GlyfsTer2
NR_110313.1:n.1783_1793del
XM_006713882.2:c.1299_1309del	XP_006713945.1:p.Leu434GlyfsTer2
XM_011513459.1:c.1761_1771del	XP_011511761.1:p.Leu588GlyfsTer2
XM_011513460.1:c.1554_1564del	XP_011511762.1:p.Leu519GlyfsTer2
XM_011513461.1:c.1488_1498del	XP_011511763.1:p.Leu497GlyfsTer2
XM_011513462.1:c.1407_1417del	XP_011511764.1:p.Leu470GlyfsTer2
XM_011513463.1:c.1407_1417del	XP_011511765.1:p.Leu470GlyfsTer2
XR_924947.1:n.1951_1961del
NM_000203.5:c.1695_1705del MANE Select	NP_000194.2:p.Leu566GlyfsTer2
NM_001363576.1:c.1299_1309del	NP_001350505.1:p.Leu434GlyfsTer2
XM_011513461.2:c.1488_1498del	XP_011511763.1:p.Leu497GlyfsTer2
XM_017008163.1:c.735_745del	XP_016863652.1:p.Leu246GlyfsTer2