Canonical Allele Identifier: CA2669475695

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987378-C-CTGCCACACAGCCAGGCTGACCAGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987378_987379insTGCCACACAGCCAGGCTGACCAGTA , CM000666.2:g.987378_987379insTGCCACACAGCCAGGCTGACCAGTA	GRCh38
NC_000004.11:g.981166_981167insTGCCACACAGCCAGGCTGACCAGTA , CM000666.1:g.981166_981167insTGCCACACAGCCAGGCTGACCAGTA	GRCh37
NC_000004.10:g.971166_971167insTGCCACACAGCCAGGCTGACCAGTA	NCBI36
NG_008103.1:g.5382_5383insTGCCACACAGCCAGGCTGACCAGTA
NG_033042.1:g.11058_11059insTACTGGTCAGCCTGGCTGTGTGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	ENSP00000247933.4:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAG...
ENST00000514224.2:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA) MANE Select	ENSP00000425081.2:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAG...
ENST00000247933.8:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	ENSP00000247933.4:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAG...
ENST00000398520.6:c.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA (SLC26A1)	ENSP00000381532.2:n.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGT...
ENST00000502910.5:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	ENSP00000422952.1:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAG...
ENST00000504568.5:c.156+136_156+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)
ENST00000506561.5:n.167+136_167+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)
ENST00000508168.5:n.177+136_177+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)
ENST00000514698.5:n.199+136_199+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)
ENST00000622731.4:c.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA (SLC26A1)	ENSP00000483506.1:n.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGT...
NM_000203.4:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	NP_000194.2:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA
NM_134425.2:c.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA (SLC26A1)	NP_602297.1:n.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA
NR_110313.1:n.246+136_246+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)
XM_011513459.1:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	XP_011511761.1:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA
XM_011513460.1:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	XP_011511762.1:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA
XR_924947.1:n.227+136_227+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)
NM_000203.5:c.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA) MANE Select	NP_000194.2:n.158+136_158+137insTGCCACACAGCCAGGCTGACCAGTA
XM_017008163.1:c.-1309+136_-1309+137insTGCCACACAGCCAGGCTGACCAGTA (IDUA)	XP_016863652.1:n.-1309+136_-1309+137insTGCCACACAGCCAGGCTGACCA...
NM_134425.3:c.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA (SLC26A1)	NP_602297.1:n.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA
NM_134425.4:c.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA (SLC26A1)	NP_602297.1:n.576+3749_576+3750insTACTGGTCAGCCTGGCTGTGTGGCA