Canonical Allele Identifier: CA1433050846

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987482_987492delinsACCAGGAGTCT , CM000666.2:g.987482_987492delinsACCAGGAGTCT	GRCh38
NC_000004.11:g.981270_981280delinsACCAGGAGTCT , CM000666.1:g.981270_981280delinsACCAGGAGTCT	GRCh37
NC_000004.10:g.971270_971280delinsACCAGGAGTCT	NCBI36
NG_008103.1:g.5486_5496delinsACCAGGAGTCT
NG_033042.1:g.10945_10955delinsAGACTCCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+240_158+250delinsACCAGGAGTCT (IDUA)	ENSP00000247933.4:n.158+240_158+250delinsACCAGGAGTCT
ENST00000514224.2:c.158+240_158+250delinsACCAGGAGTCT (IDUA) MANE Select	ENSP00000425081.2:n.158+240_158+250delinsACCAGGAGTCT
ENST00000247933.8:c.158+240_158+250delinsACCAGGAGTCT (IDUA)	ENSP00000247933.4:n.158+240_158+250delinsACCAGGAGTCT
ENST00000398520.6:c.576+3636_576+3646delinsAGACTCCTGGT (SLC26A1)	ENSP00000381532.2:n.576+3636_576+3646delinsAGACTCCTGGT
ENST00000502910.5:c.158+240_158+250delinsACCAGGAGTCT (IDUA)	ENSP00000422952.1:n.158+240_158+250delinsACCAGGAGTCT
ENST00000504568.5:c.156+240_156+250delinsACCAGGAGTCT (IDUA)
ENST00000506561.5:n.167+240_167+250delinsACCAGGAGTCT (IDUA)
ENST00000508168.5:n.177+240_177+250delinsACCAGGAGTCT (IDUA)
ENST00000514698.5:n.199+240_199+250delinsACCAGGAGTCT (IDUA)
ENST00000622731.4:c.576+3636_576+3646delinsAGACTCCTGGT (SLC26A1)	ENSP00000483506.1:n.576+3636_576+3646delinsAGACTCCTGGT
NM_000203.4:c.158+240_158+250delinsACCAGGAGTCT (IDUA)	NP_000194.2:n.158+240_158+250delinsACCAGGAGTCT
NM_134425.2:c.576+3636_576+3646delinsAGACTCCTGGT (SLC26A1)	NP_602297.1:n.576+3636_576+3646delinsAGACTCCTGGT
NR_110313.1:n.246+240_246+250delinsACCAGGAGTCT (IDUA)
XM_011513459.1:c.158+240_158+250delinsACCAGGAGTCT (IDUA)	XP_011511761.1:n.158+240_158+250delinsACCAGGAGTCT
XM_011513460.1:c.158+240_158+250delinsACCAGGAGTCT (IDUA)	XP_011511762.1:n.158+240_158+250delinsACCAGGAGTCT
XR_924947.1:n.227+240_227+250delinsACCAGGAGTCT (IDUA)
NM_000203.5:c.158+240_158+250delinsACCAGGAGTCT (IDUA) MANE Select	NP_000194.2:n.158+240_158+250delinsACCAGGAGTCT
XM_017008163.1:c.-1309+240_-1309+250delinsACCAGGAGTCT (IDUA)	XP_016863652.1:n.-1309+240_-1309+250delinsACCAGGAGTCT
NM_134425.3:c.576+3636_576+3646delinsAGACTCCTGGT (SLC26A1)	NP_602297.1:n.576+3636_576+3646delinsAGACTCCTGGT
NM_134425.4:c.576+3636_576+3646delinsAGACTCCTGGT (SLC26A1)	NP_602297.1:n.576+3636_576+3646delinsAGACTCCTGGT