Canonical Allele Identifier: CA1433050825

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987439_987440delinsCT , CM000666.2:g.987439_987440delinsCT	GRCh38
NC_000004.11:g.981227_981228delinsCT , CM000666.1:g.981227_981228delinsCT	GRCh37
NC_000004.10:g.971227_971228delinsCT	NCBI36
NG_008103.1:g.5443_5444delinsCT
NG_033042.1:g.10997_10998delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+197_158+198delinsCT (IDUA)	ENSP00000247933.4:n.158+197_158+198delinsCT
ENST00000514224.2:c.158+197_158+198delinsCT (IDUA) MANE Select	ENSP00000425081.2:n.158+197_158+198delinsCT
ENST00000247933.8:c.158+197_158+198delinsCT (IDUA)	ENSP00000247933.4:n.158+197_158+198delinsCT
ENST00000398520.6:c.576+3688_576+3689delinsAG (SLC26A1)	ENSP00000381532.2:n.576+3688_576+3689delinsAG
ENST00000502910.5:c.158+197_158+198delinsCT (IDUA)	ENSP00000422952.1:n.158+197_158+198delinsCT
ENST00000504568.5:c.156+197_156+198delinsCT (IDUA)
ENST00000506561.5:n.167+197_167+198delinsCT (IDUA)
ENST00000508168.5:n.177+197_177+198delinsCT (IDUA)
ENST00000514698.5:n.199+197_199+198delinsCT (IDUA)
ENST00000622731.4:c.576+3688_576+3689delinsAG (SLC26A1)	ENSP00000483506.1:n.576+3688_576+3689delinsAG
NM_000203.4:c.158+197_158+198delinsCT (IDUA)	NP_000194.2:n.158+197_158+198delinsCT
NM_134425.2:c.576+3688_576+3689delinsAG (SLC26A1)	NP_602297.1:n.576+3688_576+3689delinsAG
NR_110313.1:n.246+197_246+198delinsCT (IDUA)
XM_011513459.1:c.158+197_158+198delinsCT (IDUA)	XP_011511761.1:n.158+197_158+198delinsCT
XM_011513460.1:c.158+197_158+198delinsCT (IDUA)	XP_011511762.1:n.158+197_158+198delinsCT
XR_924947.1:n.227+197_227+198delinsCT (IDUA)
NM_000203.5:c.158+197_158+198delinsCT (IDUA) MANE Select	NP_000194.2:n.158+197_158+198delinsCT
XM_017008163.1:c.-1309+197_-1309+198delinsCT (IDUA)	XP_016863652.1:n.-1309+197_-1309+198delinsCT
NM_134425.3:c.576+3688_576+3689delinsAG (SLC26A1)	NP_602297.1:n.576+3688_576+3689delinsAG
NM_134425.4:c.576+3688_576+3689delinsAG (SLC26A1)	NP_602297.1:n.576+3688_576+3689delinsAG