Canonical Allele Identifier: CA2669476242

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-988002-T-TGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.988010_988014dup , CM000666.2:g.988010_988014dup	GRCh38
NC_000004.11:g.981798_981802dup , CM000666.1:g.981798_981802dup	GRCh37
NC_000004.10:g.971798_971802dup	NCBI36
NG_008103.1:g.6014_6018dup
NG_033042.1:g.10430_10434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.299+61_299+65dup (IDUA)	ENSP00000247933.4:n.299+61_299+65dup
ENST00000398516.3:c.*826_*830dup (SLC26A1) MANE Select	ENSP00000381528.2:n.*826_*830dup
ENST00000514224.2:c.299+61_299+65dup (IDUA) MANE Select	ENSP00000425081.2:n.299+61_299+65dup
ENST00000247933.8:c.299+61_299+65dup (IDUA)	ENSP00000247933.4:n.299+61_299+65dup
ENST00000361661.6:c.*826_*830dup (SLC26A1)	ENSP00000354721.2:n.*826_*830dup
ENST00000398516.2:c.*826_*830dup (SLC26A1)	ENSP00000381528.2:n.*826_*830dup
ENST00000398520.6:c.576+3121_576+3125dup (SLC26A1)	ENSP00000381532.2:n.576+3121_576+3125dup
ENST00000502910.5:c.158+768_158+772dup (IDUA)	ENSP00000422952.1:n.158+768_158+772dup
ENST00000504568.5:c.259+99_259+103dup (IDUA)
ENST00000506561.5:n.308+61_308+65dup (IDUA)
ENST00000508168.5:n.177+768_177+772dup (IDUA)
ENST00000509744.1:n.35+61_35+65dup (IDUA)
ENST00000514698.5:n.199+768_199+772dup (IDUA)
ENST00000622731.4:c.576+3121_576+3125dup (SLC26A1)	ENSP00000483506.1:n.576+3121_576+3125dup
NM_000203.4:c.299+61_299+65dup (IDUA)	NP_000194.2:n.299+61_299+65dup
NM_022042.3:c.*826_*830dup (SLC26A1)	NP_071325.2:n.*826_*830dup
NM_134425.2:c.576+3121_576+3125dup (SLC26A1)	NP_602297.1:n.576+3121_576+3125dup
NM_213613.3:c.*826_*830dup (SLC26A1)	NP_998778.1:n.*826_*830dup
NR_110313.1:n.387+61_387+65dup (IDUA)
XM_006713856.2:c.*826_*830dup (SLC26A1)	XP_006713919.1:n.*826_*830dup
XM_011513459.1:c.158+768_158+772dup (IDUA)	XP_011511761.1:n.158+768_158+772dup
XM_011513460.1:c.158+768_158+772dup (IDUA)	XP_011511762.1:n.158+768_158+772dup
XM_011513462.1:c.-815+61_-815+65dup (IDUA)	XP_011511764.1:n.-815+61_-815+65dup
XR_924947.1:n.368+61_368+65dup (IDUA)
NM_000203.5:c.299+61_299+65dup (IDUA) MANE Select	NP_000194.2:n.299+61_299+65dup
XM_017008163.1:c.-1168+61_-1168+65dup (IDUA)	XP_016863652.1:n.-1168+61_-1168+65dup
NM_022042.4:c.*826_*830dup (SLC26A1) MANE Select	NP_071325.2:n.*826_*830dup
NM_134425.3:c.576+3121_576+3125dup (SLC26A1)	NP_602297.1:n.576+3121_576+3125dup
NM_213613.4:c.*826_*830dup (SLC26A1)	NP_998778.1:n.*826_*830dup
NM_134425.4:c.576+3121_576+3125dup (SLC26A1)	NP_602297.1:n.576+3121_576+3125dup