Canonical Allele Identifier: CA1433071820

Gene: IDUA

Linked Data

• dbSNP Id: rs1715242361

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003414_1003418del , CM000666.2:g.1003414_1003418del	GRCh38
NC_000004.11:g.997202_997206del , CM000666.1:g.997202_997206del	GRCh37
NC_000004.10:g.987202_987206del	NCBI36
NG_008103.1:g.21418_21422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1594_1598del	ENSP00000247933.4:p.Leu532ValfsTer?
ENST00000514224.2:c.1594_1598del MANE Select	ENSP00000425081.2:p.Leu532ValfsTer?
ENST00000652070.1:n.1650_1654del
ENST00000247933.8:c.1594_1598del	ENSP00000247933.4:p.Leu532ValfsTer?
ENST00000514224.1:c.1198_1202del	ENSP00000425081.1:p.Leu400ValfsTer?
ENST00000514698.5:n.1701_1705del
NM_000203.4:c.1594_1598del	NP_000194.2:p.Leu532ValfsTer?
NR_110313.1:n.1682_1686del
XM_006713882.2:c.1198_1202del	XP_006713945.1:p.Leu400ValfsTer?
XM_011513459.1:c.1660_1664del	XP_011511761.1:p.Leu554ValfsTer?
XM_011513460.1:c.1453_1457del	XP_011511762.1:p.Leu485ValfsTer?
XM_011513461.1:c.1387_1391del	XP_011511763.1:p.Leu463ValfsTer?
XM_011513462.1:c.1306_1310del	XP_011511764.1:p.Leu436ValfsTer?
XM_011513463.1:c.1306_1310del	XP_011511765.1:p.Leu436ValfsTer?
XR_924947.1:n.1850_1854del
NM_000203.5:c.1594_1598del MANE Select	NP_000194.2:p.Leu532ValfsTer?
NM_001363576.1:c.1198_1202del	NP_001350505.1:p.Leu400ValfsTer?
XM_011513461.2:c.1387_1391del	XP_011511763.1:p.Leu463ValfsTer?
XM_017008163.1:c.634_638del	XP_016863652.1:p.Leu212ValfsTer?