Canonical Allele Identifier: CA2586965986

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003413del , CM000666.2:g.1003413del	GRCh38
NC_000004.11:g.997201del , CM000666.1:g.997201del	GRCh37
NC_000004.10:g.987201del	NCBI36
NG_008103.1:g.21417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1593del	ENSP00000247933.4:p.Leu532CysfsTer28
ENST00000514224.2:c.1593del MANE Select	ENSP00000425081.2:p.Leu532CysfsTer28
ENST00000652070.1:n.1649del
ENST00000247933.8:c.1593del	ENSP00000247933.4:p.Leu532CysfsTer28
ENST00000514224.1:c.1197del	ENSP00000425081.1:p.Leu400CysfsTer28
ENST00000514698.5:n.1700del
NM_000203.4:c.1593del	NP_000194.2:p.Leu532CysfsTer28
NR_110313.1:n.1681del
XM_006713882.2:c.1197del	XP_006713945.1:p.Leu400CysfsTer28
XM_011513459.1:c.1659del	XP_011511761.1:p.Leu554CysfsTer28
XM_011513460.1:c.1452del	XP_011511762.1:p.Leu485CysfsTer28
XM_011513461.1:c.1386del	XP_011511763.1:p.Leu463CysfsTer28
XM_011513462.1:c.1305del	XP_011511764.1:p.Leu436CysfsTer28
XM_011513463.1:c.1305del	XP_011511765.1:p.Leu436CysfsTer28
XR_924947.1:n.1849del
NM_000203.5:c.1593del MANE Select	NP_000194.2:p.Leu532CysfsTer28
NM_001363576.1:c.1197del	NP_001350505.1:p.Leu400CysfsTer28
XM_011513461.2:c.1386del	XP_011511763.1:p.Leu463CysfsTer28
XM_017008163.1:c.633del	XP_016863652.1:p.Leu212CysfsTer28