Linked Data
ClinVar Variation Id:
2729466
ClinVar RCV Id:
RCV003525027
dbSNP Id:
rs748374119
ExAC:
15:89858541 GCACCT / G
gnomAD v2:
15-89858541-GCACCT-G
gnomAD v3:
15-89315310-GCACCT-G
gnomAD v4:
15-89315310-GCACCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89315314_89315318del , CM000677.2:g.89315314_89315318del | GRCh38 |
| NC_000015.9:g.89858545_89858549del , CM000677.1:g.89858545_89858549del | GRCh37 |
| NC_000015.8:g.87659549_87659553del | NCBI36 |
| NG_008218.1:g.24481_24485del | |
| NG_011736.1:g.76352_76356del , LRG_500:g.76352_76356del | |
| NG_008218.2:g.24481_24485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3570_3574del (FANCI) | ENSP00000512830.1:p.Ser1191ArgfsTer18 | |
| ENST00000696718.1:c.3312_3316del (FANCI) | ENSP00000512831.1:p.Ser1105ArgfsTer18 | |
| ENST00000696719.1:c.3849_3853del (FANCI) | ENSP00000512832.1:p.Ser1284ArgfsTer18 | |
| ENST00000696721.1:n.5434_5438del (FANCI) | ||
| ENST00000310775.12:c.3849_3853del (FANCI) MANE Select | ENSP00000310842.8:p.Ser1284ArgfsTer18 | |
| ENST00000635831.1:c.73+1391_73+1395del (POLG) | ||
| ENST00000674831.1:c.3981_3985del (FANCI) | ENSP00000502474.1:p.Ser1328ArgfsTer18 | |
| ENST00000675352.1:n.3054_3058del (FANCI) | ||
| ENST00000676003.1:c.3807_3811del (FANCI) | ENSP00000502254.1:p.Ser1270ArgfsTer18 | |
| ENST00000676110.1:n.3430_3434del (FANCI) | ||
| ENST00000300027.12:c.3669_3673del (FANCI) | ENSP00000300027.8:p.Ser1224ArgfsTer18 | |
| ENST00000310775.11:c.3849_3853del (FANCI) | ENSP00000310842.7:p.Ser1284ArgfsTer18 | |
| ENST00000447611.6:c.*193_*197del (FANCI) | ENSP00000413249.2:n.*193_*197del | |
| ENST00000561894.1:c.3145_3149del (FANCI) | ||
| ENST00000566615.1:n.432_436del (FANCI) | ||
| ENST00000566895.5:n.3856_3860del (FANCI) | ||
| NM_001113378.1:c.3849_3853del , LRG_500t1:c.3849_3853del (FANCI) | NP_001106849.1:p.Ser1284ArgfsTer18 | |
| NM_018193.2:c.3669_3673del (FANCI) | NP_060663.2:p.Ser1224ArgfsTer18 | |
| XM_011521756.1:c.3849_3853del (FANCI) | XP_011520058.1:p.Ser1284ArgfsTer18 | |
| XM_011521757.1:c.3849_3853del (FANCI) | XP_011520059.1:p.Ser1284ArgfsTer18 | |
| XM_011521758.1:c.3849_3853del (FANCI) | XP_011520060.1:p.Ser1284ArgfsTer18 | |
| XM_011521759.1:c.3849_3853del (FANCI) | XP_011520061.1:p.Ser1284ArgfsTer18 | |
| XM_011521760.1:c.3849_3853del (FANCI) | XP_011520062.1:p.Ser1284ArgfsTer18 | |
| XM_011521761.1:c.3849_3853del (FANCI) | XP_011520063.1:p.Ser1284ArgfsTer18 | |
| XM_011521762.1:c.3849_3853del (FANCI) | XP_011520064.1:p.Ser1284ArgfsTer18 | |
| XM_011521763.1:c.3807_3811del (FANCI) | XP_011520065.1:p.Ser1270ArgfsTer18 | |
| XM_011521764.1:c.3669_3673del (FANCI) | XP_011520066.1:p.Ser1224ArgfsTer18 | |
| XM_011521765.1:c.3570_3574del (FANCI) | XP_011520067.1:p.Ser1191ArgfsTer18 | |
| XM_011521766.1:c.3570_3574del (FANCI) | XP_011520068.1:p.Ser1191ArgfsTer18 | |
| XM_011521767.1:c.3570_3574del (FANCI) | XP_011520069.1:p.Ser1191ArgfsTer18 | |
| XM_011521769.1:c.3504_3508del (FANCI) | XP_011520071.1:p.Ser1169ArgfsTer18 | |
| XM_011521756.2:c.3849_3853del (FANCI) | XP_011520058.1:p.Ser1284ArgfsTer18 | |
| XM_011521757.2:c.3849_3853del (FANCI) | XP_011520059.1:p.Ser1284ArgfsTer18 | |
| XM_011521764.2:c.3669_3673del (FANCI) | XP_011520066.1:p.Ser1224ArgfsTer18 | |
| XM_011521767.2:c.3570_3574del (FANCI) | XP_011520069.1:p.Ser1191ArgfsTer18 | |
| NM_001113378.2:c.3849_3853del (FANCI) MANE Select | NP_001106849.1:p.Ser1284ArgfsTer18 | |
| NM_001376910.1:c.3570_3574del (FANCI) | NP_001363839.1:p.Ser1191ArgfsTer18 | |
| NM_001376911.1:c.3849_3853del (FANCI) | NP_001363840.1:p.Ser1284ArgfsTer18 | |
| NM_018193.3:c.3669_3673del (FANCI) | NP_060663.2:p.Ser1224ArgfsTer18 |