Linked Data
dbSNP Id:
rs1489209918
gnomAD v2:
4-981270-ACCAGGAGTCT-A
gnomAD v3:
4-987482-ACCAGGAGTCT-A
gnomAD v4:
4-987482-ACCAGGAGTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987485_987494del , CM000666.2:g.987485_987494del | GRCh38 |
| NC_000004.11:g.981273_981282del , CM000666.1:g.981273_981282del | GRCh37 |
| NC_000004.10:g.971273_971282del | NCBI36 |
| NG_008103.1:g.5489_5498del | |
| NG_033042.1:g.10945_10954del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.158+243_158+252del (IDUA) | ENSP00000247933.4:n.158+243_158+252del | |
| ENST00000514224.2:c.158+243_158+252del (IDUA) MANE Select | ENSP00000425081.2:n.158+243_158+252del | |
| ENST00000247933.8:c.158+243_158+252del (IDUA) | ENSP00000247933.4:n.158+243_158+252del | |
| ENST00000398520.6:c.576+3636_576+3645del (SLC26A1) | ENSP00000381532.2:n.576+3636_576+3645del | |
| ENST00000502910.5:c.158+243_158+252del (IDUA) | ENSP00000422952.1:n.158+243_158+252del | |
| ENST00000504568.5:c.156+243_156+252del (IDUA) | ||
| ENST00000506561.5:n.167+243_167+252del (IDUA) | ||
| ENST00000508168.5:n.177+243_177+252del (IDUA) | ||
| ENST00000514698.5:n.199+243_199+252del (IDUA) | ||
| ENST00000622731.4:c.576+3636_576+3645del (SLC26A1) | ENSP00000483506.1:n.576+3636_576+3645del | |
| NM_000203.4:c.158+243_158+252del (IDUA) | NP_000194.2:n.158+243_158+252del | |
| NM_134425.2:c.576+3636_576+3645del (SLC26A1) | NP_602297.1:n.576+3636_576+3645del | |
| NR_110313.1:n.246+243_246+252del (IDUA) | ||
| XM_011513459.1:c.158+243_158+252del (IDUA) | XP_011511761.1:n.158+243_158+252del | |
| XM_011513460.1:c.158+243_158+252del (IDUA) | XP_011511762.1:n.158+243_158+252del | |
| XR_924947.1:n.227+243_227+252del (IDUA) | ||
| NM_000203.5:c.158+243_158+252del (IDUA) MANE Select | NP_000194.2:n.158+243_158+252del | |
| XM_017008163.1:c.-1309+243_-1309+252del (IDUA) | XP_016863652.1:n.-1309+243_-1309+252del | |
| NM_134425.3:c.576+3636_576+3645del (SLC26A1) | NP_602297.1:n.576+3636_576+3645del | |
| NM_134425.4:c.576+3636_576+3645del (SLC26A1) | NP_602297.1:n.576+3636_576+3645del |