Linked Data
ClinVar Variation Id:
2169787
ClinVar RCV Id:
RCV003085008
dbSNP Id:
rs398123260
gnomAD v2:
4-980906-G-GCGCTCCTGGCCT
gnomAD v3:
4-987118-G-GCGCTCCTGGCCT
gnomAD v4:
4-987118-G-GCGCTCCTGGCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987130_987141dup , CM000666.2:g.987130_987141dup | GRCh38 |
| NC_000004.11:g.980918_980929dup , CM000666.1:g.980918_980929dup | GRCh37 |
| NC_000004.10:g.970918_970929dup | NCBI36 |
| NG_008103.1:g.5134_5145dup | |
| NG_033042.1:g.11307_11318dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.46_57dup (IDUA) | ENSP00000247933.4:p.Ala19_Ala20insSerLeuL... | |
| ENST00000514224.2:c.46_57dup (IDUA) MANE Select | ENSP00000425081.2:p.Ala19_Ala20insSerLeuL... | |
| ENST00000247933.8:c.46_57dup (IDUA) | ENSP00000247933.4:p.Ala19_Ala20insSerLeuL... | |
| ENST00000398520.6:c.576+3998_576+4009dup (SLC26A1) | ENSP00000381532.2:n.576+3998_576+4009dup | |
| ENST00000502910.5:c.46_57dup (IDUA) | ENSP00000422952.1:p.Ala19_Ala20insSerLeuL... | |
| ENST00000504568.5:c.44_55dup (IDUA) | ||
| ENST00000506561.5:n.55_66dup (IDUA) | ||
| ENST00000508168.5:n.65_76dup (IDUA) | ||
| ENST00000514698.5:n.87_98dup (IDUA) | ||
| ENST00000622731.4:c.576+3998_576+4009dup (SLC26A1) | ENSP00000483506.1:n.576+3998_576+4009dup | |
| NM_000203.4:c.46_57dup (IDUA) | NP_000194.2:p.Ala19_Ala20insSerLeuLeuAla | |
| NM_134425.2:c.576+3998_576+4009dup (SLC26A1) | NP_602297.1:n.576+3998_576+4009dup | |
| NR_110313.1:n.134_145dup (IDUA) | ||
| XM_011513459.1:c.46_57dup (IDUA) | XP_011511761.1:p.Ala19_Ala20insSerLeuLeuA... | |
| XM_011513460.1:c.46_57dup (IDUA) | XP_011511762.1:p.Ala19_Ala20insSerLeuLeuA... | |
| XR_924947.1:n.115_126dup (IDUA) | ||
| NM_000203.5:c.46_57dup (IDUA) MANE Select | NP_000194.2:p.Ala19_Ala20insSerLeuLeuAla | |
| XM_017008163.1:c.-1421_-1410dup (IDUA) | XP_016863652.1:n.-1421_-1410dup | |
| NM_134425.3:c.576+3998_576+4009dup (SLC26A1) | NP_602297.1:n.576+3998_576+4009dup | |
| NM_134425.4:c.576+3998_576+4009dup (SLC26A1) | NP_602297.1:n.576+3998_576+4009dup |