Linked Data
dbSNP Id:
rs781234694
ExAC:
15:89858471 CTA / C
gnomAD v2:
15-89858471-CTA-C
gnomAD v3:
15-89315240-CTA-C
gnomAD v4:
15-89315240-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89315242_89315243del , CM000677.2:g.89315242_89315243del | GRCh38 |
| NC_000015.9:g.89858473_89858474del , CM000677.1:g.89858473_89858474del | GRCh37 |
| NC_000015.8:g.87659477_87659478del | NCBI36 |
| NG_008218.1:g.24554_24555del | |
| NG_011736.1:g.76280_76281del , LRG_500:g.76280_76281del | |
| NG_008218.2:g.24554_24555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3538-40_3538-39del (FANCI) | ENSP00000512830.1:n.3538-40_3538-39del | |
| ENST00000696718.1:c.3280-40_3280-39del (FANCI) | ENSP00000512831.1:n.3280-40_3280-39del | |
| ENST00000696719.1:c.3817-40_3817-39del (FANCI) | ENSP00000512832.1:n.3817-40_3817-39del | |
| ENST00000696721.1:n.5402-40_5402-39del (FANCI) | ||
| ENST00000310775.12:c.3817-40_3817-39del (FANCI) MANE Select | ENSP00000310842.8:n.3817-40_3817-39del | |
| ENST00000635831.1:c.73+1464_73+1465del (POLG) | ||
| ENST00000674831.1:c.3949-40_3949-39del (FANCI) | ENSP00000502474.1:n.3949-40_3949-39del | |
| ENST00000675352.1:n.3022-40_3022-39del (FANCI) | ||
| ENST00000676003.1:c.3775-40_3775-39del (FANCI) | ENSP00000502254.1:n.3775-40_3775-39del | |
| ENST00000676110.1:n.3398-40_3398-39del (FANCI) | ||
| ENST00000300027.12:c.3637-40_3637-39del (FANCI) | ENSP00000300027.8:n.3637-40_3637-39del | |
| ENST00000310775.11:c.3817-40_3817-39del (FANCI) | ENSP00000310842.7:n.3817-40_3817-39del | |
| ENST00000447611.6:c.*161-40_*161-39del (FANCI) | ENSP00000413249.2:n.*161-40_*161-39del | |
| ENST00000561894.1:c.3113-40_3113-39del (FANCI) | ||
| ENST00000566615.1:n.400-40_400-39del (FANCI) | ||
| ENST00000566895.5:n.3824-40_3824-39del (FANCI) | ||
| NM_001113378.1:c.3817-40_3817-39del , LRG_500t1:c.3817-40_3817-39del (FANCI) | NP_001106849.1:n.3817-40_3817-39del | |
| NM_018193.2:c.3637-40_3637-39del (FANCI) | NP_060663.2:n.3637-40_3637-39del | |
| XM_011521756.1:c.3817-40_3817-39del (FANCI) | XP_011520058.1:n.3817-40_3817-39del | |
| XM_011521757.1:c.3817-40_3817-39del (FANCI) | XP_011520059.1:n.3817-40_3817-39del | |
| XM_011521758.1:c.3817-40_3817-39del (FANCI) | XP_011520060.1:n.3817-40_3817-39del | |
| XM_011521759.1:c.3817-40_3817-39del (FANCI) | XP_011520061.1:n.3817-40_3817-39del | |
| XM_011521760.1:c.3817-40_3817-39del (FANCI) | XP_011520062.1:n.3817-40_3817-39del | |
| XM_011521761.1:c.3817-40_3817-39del (FANCI) | XP_011520063.1:n.3817-40_3817-39del | |
| XM_011521762.1:c.3817-40_3817-39del (FANCI) | XP_011520064.1:n.3817-40_3817-39del | |
| XM_011521763.1:c.3775-40_3775-39del (FANCI) | XP_011520065.1:n.3775-40_3775-39del | |
| XM_011521764.1:c.3637-40_3637-39del (FANCI) | XP_011520066.1:n.3637-40_3637-39del | |
| XM_011521765.1:c.3538-40_3538-39del (FANCI) | XP_011520067.1:n.3538-40_3538-39del | |
| XM_011521766.1:c.3538-40_3538-39del (FANCI) | XP_011520068.1:n.3538-40_3538-39del | |
| XM_011521767.1:c.3538-40_3538-39del (FANCI) | XP_011520069.1:n.3538-40_3538-39del | |
| XM_011521769.1:c.3472-40_3472-39del (FANCI) | XP_011520071.1:n.3472-40_3472-39del | |
| XM_011521756.2:c.3817-40_3817-39del (FANCI) | XP_011520058.1:n.3817-40_3817-39del | |
| XM_011521757.2:c.3817-40_3817-39del (FANCI) | XP_011520059.1:n.3817-40_3817-39del | |
| XM_011521764.2:c.3637-40_3637-39del (FANCI) | XP_011520066.1:n.3637-40_3637-39del | |
| XM_011521767.2:c.3538-40_3538-39del (FANCI) | XP_011520069.1:n.3538-40_3538-39del | |
| NM_001113378.2:c.3817-40_3817-39del (FANCI) MANE Select | NP_001106849.1:n.3817-40_3817-39del | |
| NM_001376910.1:c.3538-40_3538-39del (FANCI) | NP_001363839.1:n.3538-40_3538-39del | |
| NM_001376911.1:c.3817-40_3817-39del (FANCI) | NP_001363840.1:n.3817-40_3817-39del | |
| NM_018193.3:c.3637-40_3637-39del (FANCI) | NP_060663.2:n.3637-40_3637-39del |