Canonical Allele Identifier: CA1433072256

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003618_1003627delinsGGCTCCAAGT , CM000666.2:g.1003618_1003627delinsGGCTCCAAGT	GRCh38
NC_000004.11:g.997406_997415delinsGGCTCCAAGT , CM000666.1:g.997406_997415delinsGGCTCCAAGT	GRCh37
NC_000004.10:g.987406_987415delinsGGCTCCAAGT	NCBI36
NG_008103.1:g.21622_21631delinsGGCTCCAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1720_1727+2delinsGGCTCCAAGT
ENST00000514224.2:c.1720_1727+2delinsGGCTCCAAGT
ENST00000652070.1:n.1776_1783+2delinsGGCTCCAAGT
ENST00000247933.8:c.1720_1727+2delinsGGCTCCAAGT
ENST00000514224.1:c.1324_1331+2delinsGGCTCCAAGT
ENST00000514417.1:n.112_121delinsGGCTCCAAGT
ENST00000514698.5:n.1827_1836delinsGGCTCCAAGT
NM_000203.4:c.1720_1727+2delinsGGCTCCAAGT
NR_110313.1:n.1808_1817delinsGGCTCCAAGT
XM_006713882.2:c.1324_1331+2delinsGGCTCCAAGT
XM_011513459.1:c.1786_1793+2delinsGGCTCCAAGT
XM_011513460.1:c.1579_1586+2delinsGGCTCCAAGT
XM_011513461.1:c.1513_1520+2delinsGGCTCCAAGT
XM_011513462.1:c.1432_1439+2delinsGGCTCCAAGT
XM_011513463.1:c.1432_1439+2delinsGGCTCCAAGT
XR_924947.1:n.1976_1985delinsGGCTCCAAGT
NM_000203.5:c.1720_1727+2delinsGGCTCCAAGT
NM_001363576.1:c.1324_1331+2delinsGGCTCCAAGT
XM_011513461.2:c.1513_1520+2delinsGGCTCCAAGT
XM_017008163.1:c.760_767+2delinsGGCTCCAAGT