Canonical Allele Identifier: CA1433051169

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.988043_988051delinsCCCCCACCT , CM000666.2:g.988043_988051delinsCCCCCACCT	GRCh38
NC_000004.11:g.981831_981839delinsCCCCCACCT , CM000666.1:g.981831_981839delinsCCCCCACCT	GRCh37
NC_000004.10:g.971831_971839delinsCCCCCACCT	NCBI36
NG_008103.1:g.6047_6055delinsCCCCCACCT
NG_033042.1:g.10386_10394delinsAGGTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.299+94_299+102delinsCCCCCACCT (IDUA)	ENSP00000247933.4:n.299+94_299+102delinsCCCCCACCT
ENST00000398516.3:c.*782_*790delinsAGGTGGGGG (SLC26A1) MANE Select	ENSP00000381528.2:n.*782_*790delinsAGGTGGGGG
ENST00000514224.2:c.299+94_299+102delinsCCCCCACCT (IDUA) MANE Select	ENSP00000425081.2:n.299+94_299+102delinsCCCCCACCT
ENST00000247933.8:c.299+94_299+102delinsCCCCCACCT (IDUA)	ENSP00000247933.4:n.299+94_299+102delinsCCCCCACCT
ENST00000361661.6:c.*782_*790delinsAGGTGGGGG (SLC26A1)	ENSP00000354721.2:n.*782_*790delinsAGGTGGGGG
ENST00000398516.2:c.*782_*790delinsAGGTGGGGG (SLC26A1)	ENSP00000381528.2:n.*782_*790delinsAGGTGGGGG
ENST00000398520.6:c.576+3077_576+3085delinsAGGTGGGGG (SLC26A1)	ENSP00000381532.2:n.576+3077_576+3085delinsAGGTGGGGG
ENST00000502910.5:c.158+801_158+809delinsCCCCCACCT (IDUA)	ENSP00000422952.1:n.158+801_158+809delinsCCCCCACCT
ENST00000504568.5:c.259+132_259+140delinsCCCCCACCT (IDUA)
ENST00000506561.5:n.308+94_308+102delinsCCCCCACCT (IDUA)
ENST00000508168.5:n.177+801_177+809delinsCCCCCACCT (IDUA)
ENST00000509744.1:n.35+94_35+102delinsCCCCCACCT (IDUA)
ENST00000514698.5:n.199+801_199+809delinsCCCCCACCT (IDUA)
ENST00000622731.4:c.576+3077_576+3085delinsAGGTGGGGG (SLC26A1)	ENSP00000483506.1:n.576+3077_576+3085delinsAGGTGGGGG
NM_000203.4:c.299+94_299+102delinsCCCCCACCT (IDUA)	NP_000194.2:n.299+94_299+102delinsCCCCCACCT
NM_022042.3:c.*782_*790delinsAGGTGGGGG (SLC26A1)	NP_071325.2:n.*782_*790delinsAGGTGGGGG
NM_134425.2:c.576+3077_576+3085delinsAGGTGGGGG (SLC26A1)	NP_602297.1:n.576+3077_576+3085delinsAGGTGGGGG
NM_213613.3:c.*782_*790delinsAGGTGGGGG (SLC26A1)	NP_998778.1:n.*782_*790delinsAGGTGGGGG
NR_110313.1:n.387+94_387+102delinsCCCCCACCT (IDUA)
XM_006713856.2:c.*782_*790delinsAGGTGGGGG (SLC26A1)	XP_006713919.1:n.*782_*790delinsAGGTGGGGG
XM_011513459.1:c.158+801_158+809delinsCCCCCACCT (IDUA)	XP_011511761.1:n.158+801_158+809delinsCCCCCACCT
XM_011513460.1:c.158+801_158+809delinsCCCCCACCT (IDUA)	XP_011511762.1:n.158+801_158+809delinsCCCCCACCT
XM_011513462.1:c.-815+94_-815+102delinsCCCCCACCT (IDUA)	XP_011511764.1:n.-815+94_-815+102delinsCCCCCACCT
XR_924947.1:n.368+94_368+102delinsCCCCCACCT (IDUA)
NM_000203.5:c.299+94_299+102delinsCCCCCACCT (IDUA) MANE Select	NP_000194.2:n.299+94_299+102delinsCCCCCACCT
XM_017008163.1:c.-1168+94_-1168+102delinsCCCCCACCT (IDUA)	XP_016863652.1:n.-1168+94_-1168+102delinsCCCCCACCT
NM_022042.4:c.*782_*790delinsAGGTGGGGG (SLC26A1) MANE Select	NP_071325.2:n.*782_*790delinsAGGTGGGGG
NM_134425.3:c.576+3077_576+3085delinsAGGTGGGGG (SLC26A1)	NP_602297.1:n.576+3077_576+3085delinsAGGTGGGGG
NM_213613.4:c.*782_*790delinsAGGTGGGGG (SLC26A1)	NP_998778.1:n.*782_*790delinsAGGTGGGGG
NM_134425.4:c.576+3077_576+3085delinsAGGTGGGGG (SLC26A1)	NP_602297.1:n.576+3077_576+3085delinsAGGTGGGGG