Canonical Allele Identifier: CA1433050806

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987415_987416delinsCG , CM000666.2:g.987415_987416delinsCG	GRCh38
NC_000004.11:g.981203_981204delinsCG , CM000666.1:g.981203_981204delinsCG	GRCh37
NC_000004.10:g.971203_971204delinsCG	NCBI36
NG_008103.1:g.5419_5420delinsCG
NG_033042.1:g.11021_11022delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+173_158+174delinsCG (IDUA)	ENSP00000247933.4:n.158+173_158+174delinsCG
ENST00000514224.2:c.158+173_158+174delinsCG (IDUA) MANE Select	ENSP00000425081.2:n.158+173_158+174delinsCG
ENST00000247933.8:c.158+173_158+174delinsCG (IDUA)	ENSP00000247933.4:n.158+173_158+174delinsCG
ENST00000398520.6:c.576+3712_576+3713delinsCG (SLC26A1)	ENSP00000381532.2:n.576+3712_576+3713delinsCG
ENST00000502910.5:c.158+173_158+174delinsCG (IDUA)	ENSP00000422952.1:n.158+173_158+174delinsCG
ENST00000504568.5:c.156+173_156+174delinsCG (IDUA)
ENST00000506561.5:n.167+173_167+174delinsCG (IDUA)
ENST00000508168.5:n.177+173_177+174delinsCG (IDUA)
ENST00000514698.5:n.199+173_199+174delinsCG (IDUA)
ENST00000622731.4:c.576+3712_576+3713delinsCG (SLC26A1)	ENSP00000483506.1:n.576+3712_576+3713delinsCG
NM_000203.4:c.158+173_158+174delinsCG (IDUA)	NP_000194.2:n.158+173_158+174delinsCG
NM_134425.2:c.576+3712_576+3713delinsCG (SLC26A1)	NP_602297.1:n.576+3712_576+3713delinsCG
NR_110313.1:n.246+173_246+174delinsCG (IDUA)
XM_011513459.1:c.158+173_158+174delinsCG (IDUA)	XP_011511761.1:n.158+173_158+174delinsCG
XM_011513460.1:c.158+173_158+174delinsCG (IDUA)	XP_011511762.1:n.158+173_158+174delinsCG
XR_924947.1:n.227+173_227+174delinsCG (IDUA)
NM_000203.5:c.158+173_158+174delinsCG (IDUA) MANE Select	NP_000194.2:n.158+173_158+174delinsCG
XM_017008163.1:c.-1309+173_-1309+174delinsCG (IDUA)	XP_016863652.1:n.-1309+173_-1309+174delinsCG
NM_134425.3:c.576+3712_576+3713delinsCG (SLC26A1)	NP_602297.1:n.576+3712_576+3713delinsCG
NM_134425.4:c.576+3712_576+3713delinsCG (SLC26A1)	NP_602297.1:n.576+3712_576+3713delinsCG