gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Exomes Max Group AF
0.00006092 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23802527_23802528del , CM000663.2:g.23802527_23802528del | GRCh38 |
| NC_000001.10:g.24129017_24129018del , CM000663.1:g.24129017_24129018del | GRCh37 |
| NC_000001.9:g.24001604_24001605del | NCBI36 |
| NG_007068.1:g.3278_3279del | |
| NG_013061.1:g.27933_27934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.914_915del MANE Select | ENSP00000363614.3:p.Phe305TyrfsTer10 | |
| ENST00000235958.4:c.484_485del | ||
| ENST00000374487.6:c.*955_*956del | ENSP00000363611.2:n.*955_*956del | |
| ENST00000374490.7:c.914_915del | ENSP00000363614.3:p.Phe305TyrfsTer10 | |
| ENST00000436439.6:c.701_702del | ENSP00000389281.2:p.Phe234TyrfsTer10 | |
| NM_000191.2:c.914_915del | NP_000182.2:p.Phe305TyrfsTer10 | |
| NM_001166059.1:c.701_702del | NP_001159531.1:p.Phe234TyrfsTer10 | |
| NM_000191.3:c.914_915del MANE Select | NP_000182.2:p.Phe305TyrfsTer10 | |
| NM_001166059.2:c.701_702del | NP_001159531.1:p.Phe234TyrfsTer10 |