Canonical Allele Identifier: CA91144816
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Linked Data

dbSNP Id: rs896888458
gnomAD v2: 4-981204-G-GGGGCGT
gnomAD v3: 4-987416-G-GGGGCGT
gnomAD v4: 4-987416-G-GGGGCGT
MyVariant Identifiers: chr4:g.981204_981205insGGGCGT (hg19) chr4:g.987416_987417insGGGCGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987418_987423dup , CM000666.2:g.987418_987423dup GRCh38
NC_000004.11:g.981206_981211dup , CM000666.1:g.981206_981211dup GRCh37
NC_000004.10:g.971206_971211dup NCBI36
NG_008103.1:g.5422_5427dup
NG_033042.1:g.11015_11020dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.158+176_158+181dup (IDUA) ENSP00000247933.4:n.158+176_158+181dup
ENST00000514224.2:c.158+176_158+181dup (IDUA) MANE Select ENSP00000425081.2:n.158+176_158+181dup
ENST00000247933.8:c.158+176_158+181dup (IDUA) ENSP00000247933.4:n.158+176_158+181dup
ENST00000398520.6:c.576+3706_576+3711dup (SLC26A1) ENSP00000381532.2:n.576+3706_576+3711dup
ENST00000502910.5:c.158+176_158+181dup (IDUA) ENSP00000422952.1:n.158+176_158+181dup
ENST00000504568.5:c.156+176_156+181dup (IDUA)
ENST00000506561.5:n.167+176_167+181dup (IDUA)
ENST00000508168.5:n.177+176_177+181dup (IDUA)
ENST00000514698.5:n.199+176_199+181dup (IDUA)
ENST00000622731.4:c.576+3706_576+3711dup (SLC26A1) ENSP00000483506.1:n.576+3706_576+3711dup
NM_000203.4:c.158+176_158+181dup (IDUA) NP_000194.2:n.158+176_158+181dup
NM_134425.2:c.576+3706_576+3711dup (SLC26A1) NP_602297.1:n.576+3706_576+3711dup
NR_110313.1:n.246+176_246+181dup (IDUA)
XM_011513459.1:c.158+176_158+181dup (IDUA) XP_011511761.1:n.158+176_158+181dup
XM_011513460.1:c.158+176_158+181dup (IDUA) XP_011511762.1:n.158+176_158+181dup
XR_924947.1:n.227+176_227+181dup (IDUA)
NM_000203.5:c.158+176_158+181dup (IDUA) MANE Select NP_000194.2:n.158+176_158+181dup
XM_017008163.1:c.-1309+176_-1309+181dup (IDUA) XP_016863652.1:n.-1309+176_-1309+181dup
NM_134425.3:c.576+3706_576+3711dup (SLC26A1) NP_602297.1:n.576+3706_576+3711dup
NM_134425.4:c.576+3706_576+3711dup (SLC26A1) NP_602297.1:n.576+3706_576+3711dup
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