Canonical Allele Identifier: CA1433050939

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987630_987631delinsTC , CM000666.2:g.987630_987631delinsTC	GRCh38
NC_000004.11:g.981418_981419delinsTC , CM000666.1:g.981418_981419delinsTC	GRCh37
NC_000004.10:g.971418_971419delinsTC	NCBI36
NG_008103.1:g.5634_5635delinsTC
NG_033042.1:g.10806_10807delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-179_159-178delinsTC (IDUA)	ENSP00000247933.4:n.159-179_159-178delinsTC
ENST00000514224.2:c.159-179_159-178delinsTC (IDUA) MANE Select	ENSP00000425081.2:n.159-179_159-178delinsTC
ENST00000247933.8:c.159-179_159-178delinsTC (IDUA)	ENSP00000247933.4:n.159-179_159-178delinsTC
ENST00000398520.6:c.576+3497_576+3498delinsGA (SLC26A1)	ENSP00000381532.2:n.576+3497_576+3498delinsGA
ENST00000502910.5:c.158+388_158+389delinsTC (IDUA)	ENSP00000422952.1:n.158+388_158+389delinsTC
ENST00000504568.5:c.157-179_157-178delinsTC (IDUA)
ENST00000506561.5:n.168-179_168-178delinsTC (IDUA)
ENST00000508168.5:n.177+388_177+389delinsTC (IDUA)
ENST00000514698.5:n.199+388_199+389delinsTC (IDUA)
ENST00000622731.4:c.576+3497_576+3498delinsGA (SLC26A1)	ENSP00000483506.1:n.576+3497_576+3498delinsGA
NM_000203.4:c.159-179_159-178delinsTC (IDUA)	NP_000194.2:n.159-179_159-178delinsTC
NM_134425.2:c.576+3497_576+3498delinsGA (SLC26A1)	NP_602297.1:n.576+3497_576+3498delinsGA
NR_110313.1:n.247-179_247-178delinsTC (IDUA)
XM_011513459.1:c.158+388_158+389delinsTC (IDUA)	XP_011511761.1:n.158+388_158+389delinsTC
XM_011513460.1:c.158+388_158+389delinsTC (IDUA)	XP_011511762.1:n.158+388_158+389delinsTC
XR_924947.1:n.228-179_228-178delinsTC (IDUA)
NM_000203.5:c.159-179_159-178delinsTC (IDUA) MANE Select	NP_000194.2:n.159-179_159-178delinsTC
XM_017008163.1:c.-1308-179_-1308-178delinsTC (IDUA)	XP_016863652.1:n.-1308-179_-1308-178delinsTC
NM_134425.3:c.576+3497_576+3498delinsGA (SLC26A1)	NP_602297.1:n.576+3497_576+3498delinsGA
NM_134425.4:c.576+3497_576+3498delinsGA (SLC26A1)	NP_602297.1:n.576+3497_576+3498delinsGA