gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17071522_17071540del , CM000672.2:g.17071522_17071540del | GRCh38 |
| NC_000010.10:g.17113521_17113539del , CM000672.1:g.17113521_17113539del | GRCh37 |
| NC_000010.9:g.17153527_17153545del | NCBI36 |
| NG_008967.1:g.63282_63300del , LRG_540:g.63282_63300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.2515_2533del MANE Select | ENSP00000367064.4:p.Glu839ProfsTer? | |
| ENST00000377833.8:c.2515_2533del | ENSP00000367064.4:p.Glu839ProfsTer? | |
| NM_001081.3:c.2515_2533del , LRG_540t1:c.2515_2533del | NP_001072.2:p.Glu839ProfsTer? | |
| XM_011519708.1:c.2515_2533del | XP_011518010.1:p.Glu839ProfsTer? | |
| XM_011519708.2:c.2515_2533del | XP_011518010.1:p.Glu839ProfsTer? | |
| NM_001081.4:c.2515_2533del MANE Select | NP_001072.2:p.Glu839ProfsTer? |