Canonical Allele Identifier: CA2669476260

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-988013-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.988013_988014insT , CM000666.2:g.988013_988014insT	GRCh38
NC_000004.11:g.981801_981802insT , CM000666.1:g.981801_981802insT	GRCh37
NC_000004.10:g.971801_971802insT	NCBI36
NG_008103.1:g.6017_6018insT
NG_033042.1:g.10423_10424insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.299+64_299+65insT (IDUA)	ENSP00000247933.4:n.299+64_299+65insT
ENST00000398516.3:c.*819_*820insA (SLC26A1) MANE Select	ENSP00000381528.2:n.*819_*820insA
ENST00000514224.2:c.299+64_299+65insT (IDUA) MANE Select	ENSP00000425081.2:n.299+64_299+65insT
ENST00000247933.8:c.299+64_299+65insT (IDUA)	ENSP00000247933.4:n.299+64_299+65insT
ENST00000361661.6:c.*819_*820insA (SLC26A1)	ENSP00000354721.2:n.*819_*820insA
ENST00000398516.2:c.*819_*820insA (SLC26A1)	ENSP00000381528.2:n.*819_*820insA
ENST00000398520.6:c.576+3114_576+3115insA (SLC26A1)	ENSP00000381532.2:n.576+3114_576+3115insA
ENST00000502910.5:c.158+771_158+772insT (IDUA)	ENSP00000422952.1:n.158+771_158+772insT
ENST00000504568.5:c.259+102_259+103insT (IDUA)
ENST00000506561.5:n.308+64_308+65insT (IDUA)
ENST00000508168.5:n.177+771_177+772insT (IDUA)
ENST00000509744.1:n.35+64_35+65insT (IDUA)
ENST00000514698.5:n.199+771_199+772insT (IDUA)
ENST00000622731.4:c.576+3114_576+3115insA (SLC26A1)	ENSP00000483506.1:n.576+3114_576+3115insA
NM_000203.4:c.299+64_299+65insT (IDUA)	NP_000194.2:n.299+64_299+65insT
NM_022042.3:c.*819_*820insA (SLC26A1)	NP_071325.2:n.*819_*820insA
NM_134425.2:c.576+3114_576+3115insA (SLC26A1)	NP_602297.1:n.576+3114_576+3115insA
NM_213613.3:c.*819_*820insA (SLC26A1)	NP_998778.1:n.*819_*820insA
NR_110313.1:n.387+64_387+65insT (IDUA)
XM_006713856.2:c.*819_*820insA (SLC26A1)	XP_006713919.1:n.*819_*820insA
XM_011513459.1:c.158+771_158+772insT (IDUA)	XP_011511761.1:n.158+771_158+772insT
XM_011513460.1:c.158+771_158+772insT (IDUA)	XP_011511762.1:n.158+771_158+772insT
XM_011513462.1:c.-815+64_-815+65insT (IDUA)	XP_011511764.1:n.-815+64_-815+65insT
XR_924947.1:n.368+64_368+65insT (IDUA)
NM_000203.5:c.299+64_299+65insT (IDUA) MANE Select	NP_000194.2:n.299+64_299+65insT
XM_017008163.1:c.-1168+64_-1168+65insT (IDUA)	XP_016863652.1:n.-1168+64_-1168+65insT
NM_022042.4:c.*819_*820insA (SLC26A1) MANE Select	NP_071325.2:n.*819_*820insA
NM_134425.3:c.576+3114_576+3115insA (SLC26A1)	NP_602297.1:n.576+3114_576+3115insA
NM_213613.4:c.*819_*820insA (SLC26A1)	NP_998778.1:n.*819_*820insA
NM_134425.4:c.576+3114_576+3115insA (SLC26A1)	NP_602297.1:n.576+3114_576+3115insA