Canonical Allele Identifier: CA2499217358

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 1066552
• ClinVar RCV Id: RCV001377572 ; RCV001780282
• dbSNP Id: rs2153015709

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987949_987950delinsAT , CM000666.2:g.987949_987950delinsAT	GRCh38
NC_000004.11:g.981737_981738delinsAT , CM000666.1:g.981737_981738delinsAT	GRCh37
NC_000004.10:g.971737_971738delinsAT	NCBI36
NG_008103.1:g.5953_5954delinsAT
NG_033042.1:g.10487_10488delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.299_299+1delinsAT (IDUA)
ENST00000398516.3:c.*883_*884delinsAT (SLC26A1) MANE Select	ENSP00000381528.2:n.*883_*884delinsAT
ENST00000514224.2:c.299_299+1delinsAT (IDUA)
ENST00000247933.8:c.299_299+1delinsAT (IDUA)
ENST00000361661.6:c.*883_*884delinsAT (SLC26A1)	ENSP00000354721.2:n.*883_*884delinsAT
ENST00000398520.6:c.576+3178_576+3179delinsAT (SLC26A1)	ENSP00000381532.2:n.576+3178_576+3179delinsAT
ENST00000502910.5:c.158+707_158+708delinsAT (IDUA)	ENSP00000422952.1:n.158+707_158+708delinsAT
ENST00000504568.5:c.259+38_259+39delinsAT (IDUA)
ENST00000506561.5:n.308_308+1delinsAT (IDUA)
ENST00000508168.5:n.177+707_177+708delinsAT (IDUA)
ENST00000509744.1:n.35_35+1delinsAT (IDUA)
ENST00000514698.5:n.199+707_199+708delinsAT (IDUA)
ENST00000622731.4:c.576+3178_576+3179delinsAT (SLC26A1)	ENSP00000483506.1:n.576+3178_576+3179delinsAT
NM_000203.4:c.299_299+1delinsAT (IDUA)
NM_022042.3:c.*883_*884delinsAT (SLC26A1)	NP_071325.2:n.*883_*884delinsAT
NM_134425.2:c.576+3178_576+3179delinsAT (SLC26A1)	NP_602297.1:n.576+3178_576+3179delinsAT
NM_213613.3:c.*883_*884delinsAT (SLC26A1)	NP_998778.1:n.*883_*884delinsAT
NR_110313.1:n.387_387+1delinsAT (IDUA)
XM_006713856.2:c.*883_*884delinsAT (SLC26A1)	XP_006713919.1:n.*883_*884delinsAT
XM_011513459.1:c.158+707_158+708delinsAT (IDUA)	XP_011511761.1:n.158+707_158+708delinsAT
XM_011513460.1:c.158+707_158+708delinsAT (IDUA)	XP_011511762.1:n.158+707_158+708delinsAT
XM_011513462.1:c.-815_-815+1delinsAT (IDUA)
XR_924947.1:n.368_368+1delinsAT (IDUA)
NM_000203.5:c.299_299+1delinsAT (IDUA)
XM_017008163.1:c.-1168_-1168+1delinsAT (IDUA)
NM_022042.4:c.*883_*884delinsAT (SLC26A1) MANE Select	NP_071325.2:n.*883_*884delinsAT
NM_134425.3:c.576+3178_576+3179delinsAT (SLC26A1)	NP_602297.1:n.576+3178_576+3179delinsAT
NM_213613.4:c.*883_*884delinsAT (SLC26A1)	NP_998778.1:n.*883_*884delinsAT
NM_134425.4:c.576+3178_576+3179delinsAT (SLC26A1)	NP_602297.1:n.576+3178_576+3179delinsAT