Canonical Allele Identifier: CA2586965984

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003382_1003498del , CM000666.2:g.1003382_1003498del	GRCh38
NC_000004.11:g.997170_997286del , CM000666.1:g.997170_997286del	GRCh37
NC_000004.10:g.987170_987286del	NCBI36
NG_008103.1:g.21386_21502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1562_1650+28del
ENST00000514224.2:c.1562_1650+28del
ENST00000652070.1:n.1618_1706+28del
ENST00000247933.8:c.1562_1650+28del
ENST00000514224.1:c.1166_1254+28del
ENST00000514698.5:n.1669_1757+28del
NM_000203.4:c.1562_1650+28del
NR_110313.1:n.1650_1738+28del
XM_006713882.2:c.1166_1254+28del
XM_011513459.1:c.1628_1716+28del
XM_011513460.1:c.1421_1509+28del
XM_011513461.1:c.1355_1443+28del
XM_011513462.1:c.1274_1362+28del
XM_011513463.1:c.1274_1362+28del
XR_924947.1:n.1818_1906+28del
NM_000203.5:c.1562_1650+28del
NM_001363576.1:c.1166_1254+28del
XM_011513461.2:c.1355_1443+28del
XM_017008163.1:c.602_690+28del