MyVariant.info:
GRCh38
chr4:g.987841_987842del
GRCh37
chr4:g.981629_981630del
GRCh37
chr4:g.981629_981630delAC
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987841_987842del , CM000666.2:g.987841_987842del | GRCh38 |
| NC_000004.11:g.981629_981630del , CM000666.1:g.981629_981630del | GRCh37 |
| NC_000004.10:g.971629_971630del | NCBI36 |
| NG_008103.1:g.5845_5846del | |
| NG_033042.1:g.10595_10596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.191_192del (IDUA) | ENSP00000247933.4:p.Tyr64CysfsTer? | |
| ENST00000398516.3:c.*991_*992del (SLC26A1) MANE Select | ENSP00000381528.2:n.*991_*992del | |
| ENST00000514224.2:c.191_192del (IDUA) MANE Select | ENSP00000425081.2:p.Tyr64CysfsTer? | |
| ENST00000247933.8:c.191_192del (IDUA) | ENSP00000247933.4:p.Tyr64CysfsTer? | |
| ENST00000361661.6:c.*991_*992del (SLC26A1) | ENSP00000354721.2:n.*991_*992del | |
| ENST00000398520.6:c.576+3286_576+3287del (SLC26A1) | ENSP00000381532.2:n.576+3286_576+3287del | |
| ENST00000502910.5:c.158+599_158+600del (IDUA) | ENSP00000422952.1:n.158+599_158+600del | |
| ENST00000504568.5:c.189_190del (IDUA) | ||
| ENST00000506561.5:n.200_201del (IDUA) | ||
| ENST00000508168.5:n.177+599_177+600del (IDUA) | ||
| ENST00000514698.5:n.199+599_199+600del (IDUA) | ||
| ENST00000622731.4:c.576+3286_576+3287del (SLC26A1) | ENSP00000483506.1:n.576+3286_576+3287del | |
| NM_000203.4:c.191_192del (IDUA) | NP_000194.2:p.Tyr64CysfsTer? | |
| NM_022042.3:c.*991_*992del (SLC26A1) | NP_071325.2:n.*991_*992del | |
| NM_134425.2:c.576+3286_576+3287del (SLC26A1) | NP_602297.1:n.576+3286_576+3287del | |
| NM_213613.3:c.*991_*992del (SLC26A1) | NP_998778.1:n.*991_*992del | |
| NR_110313.1:n.279_280del (IDUA) | ||
| XM_006713856.2:c.*991_*992del (SLC26A1) | XP_006713919.1:n.*991_*992del | |
| XM_011513459.1:c.158+599_158+600del (IDUA) | XP_011511761.1:n.158+599_158+600del | |
| XM_011513460.1:c.158+599_158+600del (IDUA) | XP_011511762.1:n.158+599_158+600del | |
| XR_924947.1:n.260_261del (IDUA) | ||
| NM_000203.5:c.191_192del (IDUA) MANE Select | NP_000194.2:p.Tyr64CysfsTer? | |
| XM_017008163.1:c.-1276_-1275del (IDUA) | XP_016863652.1:n.-1276_-1275del | |
| NM_022042.4:c.*991_*992del (SLC26A1) MANE Select | NP_071325.2:n.*991_*992del | |
| NM_134425.3:c.576+3286_576+3287del (SLC26A1) | NP_602297.1:n.576+3286_576+3287del | |
| NM_213613.4:c.*991_*992del (SLC26A1) | NP_998778.1:n.*991_*992del | |
| NM_134425.4:c.576+3286_576+3287del (SLC26A1) | NP_602297.1:n.576+3286_576+3287del |