gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007826 (NFE)
Exomes Max Group AF
0.00008217 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30985703_30985704del , CM000678.2:g.30985703_30985704del | GRCh38 |
| NC_000016.9:g.30997024_30997025del , CM000678.1:g.30997024_30997025del | GRCh37 |
| NC_000016.8:g.30904525_30904526del | NCBI36 |
| NG_012346.1:g.5506_5507del | |
| NG_052948.1:g.33410_33411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.45_46del MANE Select | ENSP00000297679.5:p.Gly17LeufsTer26 | |
| ENST00000262520.10:c.45_46del | ENSP00000262520.6:p.Gly17LeufsTer26 | |
| ENST00000297679.9:c.45_46del | ENSP00000297679.5:p.Gly17LeufsTer26 | |
| ENST00000562932.5:c.45_46del | ENSP00000459852.1:p.Gly17LeufsTer26 | |
| ENST00000574447.1:c.45_46del | ENSP00000459689.1:p.Gly17LeufsTer26 | |
| NM_001142777.1:c.45_46del | NP_001136249.1:p.Gly17LeufsTer26 | |
| NM_001142778.1:c.45_46del | NP_001136250.1:p.Gly17LeufsTer26 | |
| NM_025193.3:c.45_46del | NP_079469.2:p.Gly17LeufsTer26 | |
| XM_005255601.3:c.45_46del | XP_005255658.2:p.Gly17LeufsTer26 | |
| XM_011545960.1:c.45_46del | XP_011544262.1:p.Gly17LeufsTer26 | |
| XM_011545961.1:c.45_46del | XP_011544263.1:p.Gly17LeufsTer26 | |
| XM_011545962.1:c.45_46del | XP_011544264.1:p.Gly17LeufsTer26 | |
| XM_011545960.2:c.45_46del | XP_011544262.1:p.Gly17LeufsTer26 | |
| XM_011545962.2:c.45_46del | XP_011544264.1:p.Gly17LeufsTer26 | |
| XM_017023732.1:c.45_46del | XP_016879221.1:p.Gly17LeufsTer26 | |
| NM_025193.4:c.45_46del MANE Select | NP_079469.2:p.Gly17LeufsTer26 | |
| NM_001142777.2:c.45_46del | NP_001136249.1:p.Gly17LeufsTer26 | |
| NM_001142778.2:c.45_46del | NP_001136250.1:p.Gly17LeufsTer26 |