Linked Data
ClinVar Variation Id:
408200
dbSNP Id:
rs758597713
ExAC:
15:89849379 AG / A
gnomAD v2:
15-89849379-AG-A
gnomAD v3:
15-89306148-AG-A
gnomAD v4:
15-89306148-AG-A
MyVariant Identifiers:
chr15:g.89849381del (hg19)
chr15:g.89849380del (hg19)
chr15:g.89306150del (hg38)
chr15:g.89306149del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89306150del , CM000677.2:g.89306150del | GRCh38 |
| NC_000015.9:g.89849381del , CM000677.1:g.89849381del | GRCh37 |
| NC_000015.8:g.87650385del | NCBI36 |
| NG_011736.1:g.67188del , LRG_500:g.67188del | |
| NG_008218.2:g.33647del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3214del (FANCI) | ENSP00000512830.1:p.Asp1072ThrfsTer? | |
| ENST00000696718.1:c.2956del (FANCI) | ENSP00000512831.1:p.Asp986ThrfsTer? | |
| ENST00000696719.1:c.3493del (FANCI) | ENSP00000512832.1:p.Asp1165ThrfsTer? | |
| ENST00000696721.1:n.5078del (FANCI) | ||
| ENST00000310775.12:c.3493del (FANCI) MANE Select | ENSP00000310842.8:p.Asp1165ThrfsTer? | |
| ENST00000635831.1:c.74-925del (POLG) | ||
| ENST00000674831.1:c.3493del (FANCI) | ENSP00000502474.1:p.Asp1165ThrfsTer? | |
| ENST00000676003.1:c.3451del (FANCI) | ENSP00000502254.1:p.Asp1151ThrfsTer? | |
| ENST00000300027.12:c.3313del (FANCI) | ENSP00000300027.8:p.Asp1105ThrfsTer? | |
| ENST00000310775.11:c.3493del (FANCI) | ENSP00000310842.7:p.Asp1165ThrfsTer? | |
| ENST00000447611.6:c.3169+452del (FANCI) | ENSP00000413249.2:n.3169+452del | |
| ENST00000561894.1:c.2789del (FANCI) | ||
| ENST00000565522.5:n.130-6754del (FANCI) | ||
| ENST00000566895.5:n.3500del (FANCI) | ||
| NM_001113378.1:c.3493del , LRG_500t1:c.3493del (FANCI) | NP_001106849.1:p.Asp1165ThrfsTer? | |
| NM_018193.2:c.3313del (FANCI) | NP_060663.2:p.Asp1105ThrfsTer? | |
| XM_011521756.1:c.3493del (FANCI) | XP_011520058.1:p.Asp1165ThrfsTer? | |
| XM_011521757.1:c.3493del (FANCI) | XP_011520059.1:p.Asp1165ThrfsTer? | |
| XM_011521758.1:c.3493del (FANCI) | XP_011520060.1:p.Asp1165ThrfsTer? | |
| XM_011521759.1:c.3493del (FANCI) | XP_011520061.1:p.Asp1165ThrfsTer? | |
| XM_011521760.1:c.3493del (FANCI) | XP_011520062.1:p.Asp1165ThrfsTer? | |
| XM_011521761.1:c.3493del (FANCI) | XP_011520063.1:p.Asp1165ThrfsTer? | |
| XM_011521762.1:c.3493del (FANCI) | XP_011520064.1:p.Asp1165ThrfsTer? | |
| XM_011521763.1:c.3451del (FANCI) | XP_011520065.1:p.Asp1151ThrfsTer? | |
| XM_011521764.1:c.3313del (FANCI) | XP_011520066.1:p.Asp1105ThrfsTer? | |
| XM_011521765.1:c.3214del (FANCI) | XP_011520067.1:p.Asp1072ThrfsTer? | |
| XM_011521766.1:c.3214del (FANCI) | XP_011520068.1:p.Asp1072ThrfsTer? | |
| XM_011521767.1:c.3214del (FANCI) | XP_011520069.1:p.Asp1072ThrfsTer? | |
| XM_011521768.1:c.3493del (FANCI) | XP_011520070.1:p.Asp1165ThrfsTer? | |
| XM_011521769.1:c.3148del (FANCI) | XP_011520071.1:p.Asp1050ThrfsTer? | |
| XM_011521756.2:c.3493del (FANCI) | XP_011520058.1:p.Asp1165ThrfsTer? | |
| XM_011521757.2:c.3493del (FANCI) | XP_011520059.1:p.Asp1165ThrfsTer? | |
| XM_011521764.2:c.3313del (FANCI) | XP_011520066.1:p.Asp1105ThrfsTer? | |
| XM_011521767.2:c.3214del (FANCI) | XP_011520069.1:p.Asp1072ThrfsTer? | |
| NM_001113378.2:c.3493del (FANCI) MANE Select | NP_001106849.1:p.Asp1165ThrfsTer? | |
| NM_001376910.1:c.3214del (FANCI) | NP_001363839.1:p.Asp1072ThrfsTer? | |
| NM_001376911.1:c.3493del (FANCI) | NP_001363840.1:p.Asp1165ThrfsTer? | |
| NM_018193.3:c.3313del (FANCI) | NP_060663.2:p.Asp1105ThrfsTer? |