gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25901125 (AFR)
Genomes Max Group AF
0.25122246 (AFR)
Exomes Max Group AF
0.26587569 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99836455del , CM000669.2:g.99836455del | GRCh38 |
| NC_000007.13:g.99434078del , CM000669.1:g.99434078del | GRCh37 |
| NC_000007.12:g.99272014del | NCBI36 |
| NG_007935.1:g.13443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354829.7:c.74del MANE Select | ENSP00000346887.3:p.Tyr25LeufsTer? | |
| ENST00000222382.5:c.74del | ENSP00000222382.5:p.Tyr25LeufsTer? | |
| ENST00000312017.9:c.74del | ENSP00000312110.5:p.Tyr25LeufsTer? | |
| ENST00000342499.8:c.74del | ENSP00000345351.5:p.Tyr25LeufsTer? | |
| ENST00000354829.6:c.74del | ENSP00000346887.2:p.Tyr25LeufsTer? | |
| ENST00000415413.5:c.74del | ENSP00000401521.1:p.Tyr25LeufsTer? | |
| ENST00000417625.5:c.74del | ENSP00000416581.1:p.Tyr25LeufsTer? | |
| ENST00000433277.5:c.74del | ENSP00000400316.1:p.Tyr25LeufsTer? | |
| ENST00000434806.5:c.74del | ENSP00000411653.1:p.Tyr25LeufsTer? | |
| ENST00000436834.5:c.72-2665del | ENSP00000415221.1:n.72-2665del | |
| ENST00000444905.5:c.39+8269del | ENSP00000405557.1:n.39+8269del | |
| ENST00000463915.5:n.138+8269del | ||
| ENST00000477658.5:n.138+8269del | ||
| ENST00000481362.5:n.74del | ||
| ENST00000491648.5:n.138+8269del | ||
| ENST00000495115.5:n.138+8269del | ||
| ENST00000631161.2:c.74del | ENSP00000486759.1:p.Tyr25LeufsTer? | |
| NM_001278921.1:c.74del | NP_001265850.1:p.Tyr25LeufsTer? | |
| NM_022820.4:c.74del | NP_073731.1:p.Tyr25LeufsTer? | |
| NM_057095.2:c.74del | NP_476436.1:p.Tyr25LeufsTer? | |
| NM_057096.3:c.74del | NP_476437.1:p.Tyr25LeufsTer? | |
| NR_103868.1:n.175-2665del | ||
| NR_103869.1:n.177del | ||
| XM_011516493.1:c.74del | XP_011514795.1:p.Tyr25LeufsTer? | |
| XM_024446877.1:c.-157del | XP_024302645.1:n.-157del | |
| NM_001278921.2:c.74del | NP_001265850.1:p.Tyr25LeufsTer? | |
| NM_022820.5:c.74del | NP_073731.1:p.Tyr25LeufsTer? | |
| NM_057095.3:c.74del MANE Select | NP_476436.1:p.Tyr25LeufsTer? | |
| NM_057096.4:c.74del | NP_476437.1:p.Tyr25LeufsTer? | |
| NR_103868.2:n.175-2665del | ||
| NR_103869.2:n.177del |