MyVariant.info:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609389_132609392del , CM000667.2:g.132609389_132609392del | GRCh38 |
| NC_000005.9:g.131945081_131945084del , CM000667.1:g.131945081_131945084del | GRCh37 |
| NC_000005.8:g.131972980_131972983del | NCBI36 |
| NG_021151.1:g.57466_57469del | |
| NG_021151.2:g.57413_57416del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3029_3032del MANE Select | ENSP00000368100.4:p.Thr1010ArgfsTer14 | |
| ENST00000638452.2:c.2732_2735del | ENSP00000492349.2:p.Thr911ArgfsTer14 | |
| ENST00000638504.1:n.2637_2640del | ||
| ENST00000638568.2:c.2732_2735del | ENSP00000491158.2:p.Thr911ArgfsTer14 | |
| ENST00000639899.1:n.3548_3551del | ||
| ENST00000640655.2:c.2732_2735del | ENSP00000491596.2:p.Thr911ArgfsTer14 | |
| ENST00000651723.1:c.*3112_*3115del | ENSP00000498237.1:n.*3112_*3115del | |
| ENST00000378823.7:c.3029_3032del | ENSP00000368100.4:p.Thr1010ArgfsTer14 | |
| ENST00000533482.5:c.*2655_*2658del | ENSP00000431225.1:n.*2655_*2658del | |
| NM_005732.3:c.3029_3032del | NP_005723.2:p.Thr1010ArgfsTer14 | |
| NM_005732.4:c.3029_3032del MANE Select | NP_005723.2:p.Thr1010ArgfsTer14 |