Canonical Allele Identifier: CA2669475709

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987380-G-GCCACACAGCCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987380_987381insCCACACAGCCAGGC , CM000666.2:g.987380_987381insCCACACAGCCAGGC	GRCh38
NC_000004.11:g.981168_981169insCCACACAGCCAGGC , CM000666.1:g.981168_981169insCCACACAGCCAGGC	GRCh37
NC_000004.10:g.971168_971169insCCACACAGCCAGGC	NCBI36
NG_008103.1:g.5384_5385insCCACACAGCCAGGC
NG_033042.1:g.11056_11057insGCCTGGCTGTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+138_158+139insCCACACAGCCAGGC (IDUA)	ENSP00000247933.4:n.158+138_158+139insCCACACAGCCAGGC
ENST00000514224.2:c.158+138_158+139insCCACACAGCCAGGC (IDUA) MANE Select	ENSP00000425081.2:n.158+138_158+139insCCACACAGCCAGGC
ENST00000247933.8:c.158+138_158+139insCCACACAGCCAGGC (IDUA)	ENSP00000247933.4:n.158+138_158+139insCCACACAGCCAGGC
ENST00000398520.6:c.576+3747_576+3748insGCCTGGCTGTGTGG (SLC26A1)	ENSP00000381532.2:n.576+3747_576+3748insGCCTGGCTGTGTGG
ENST00000502910.5:c.158+138_158+139insCCACACAGCCAGGC (IDUA)	ENSP00000422952.1:n.158+138_158+139insCCACACAGCCAGGC
ENST00000504568.5:c.156+138_156+139insCCACACAGCCAGGC (IDUA)
ENST00000506561.5:n.167+138_167+139insCCACACAGCCAGGC (IDUA)
ENST00000508168.5:n.177+138_177+139insCCACACAGCCAGGC (IDUA)
ENST00000514698.5:n.199+138_199+139insCCACACAGCCAGGC (IDUA)
ENST00000622731.4:c.576+3747_576+3748insGCCTGGCTGTGTGG (SLC26A1)	ENSP00000483506.1:n.576+3747_576+3748insGCCTGGCTGTGTGG
NM_000203.4:c.158+138_158+139insCCACACAGCCAGGC (IDUA)	NP_000194.2:n.158+138_158+139insCCACACAGCCAGGC
NM_134425.2:c.576+3747_576+3748insGCCTGGCTGTGTGG (SLC26A1)	NP_602297.1:n.576+3747_576+3748insGCCTGGCTGTGTGG
NR_110313.1:n.246+138_246+139insCCACACAGCCAGGC (IDUA)
XM_011513459.1:c.158+138_158+139insCCACACAGCCAGGC (IDUA)	XP_011511761.1:n.158+138_158+139insCCACACAGCCAGGC
XM_011513460.1:c.158+138_158+139insCCACACAGCCAGGC (IDUA)	XP_011511762.1:n.158+138_158+139insCCACACAGCCAGGC
XR_924947.1:n.227+138_227+139insCCACACAGCCAGGC (IDUA)
NM_000203.5:c.158+138_158+139insCCACACAGCCAGGC (IDUA) MANE Select	NP_000194.2:n.158+138_158+139insCCACACAGCCAGGC
XM_017008163.1:c.-1309+138_-1309+139insCCACACAGCCAGGC (IDUA)	XP_016863652.1:n.-1309+138_-1309+139insCCACACAGCCAGGC
NM_134425.3:c.576+3747_576+3748insGCCTGGCTGTGTGG (SLC26A1)	NP_602297.1:n.576+3747_576+3748insGCCTGGCTGTGTGG
NM_134425.4:c.576+3747_576+3748insGCCTGGCTGTGTGG (SLC26A1)	NP_602297.1:n.576+3747_576+3748insGCCTGGCTGTGTGG