gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131579243_131579246del , CM000668.2:g.131579243_131579246del | GRCh38 |
| NC_000006.11:g.131900383_131900386del , CM000668.1:g.131900383_131900386del | GRCh37 |
| NC_000006.10:g.131942076_131942079del | NCBI36 |
| NG_007086.2:g.11019_11022del | |
| NG_031860.1:g.53979_53982del | |
| NG_031860.2:g.53979_53982del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.263_266del (ARG1) MANE Select | ENSP00000357066.3:p.Lys88ArgfsTer? | |
| ENST00000640973.1:c.263_266del (ARG1) | ENSP00000492623.1:p.Lys88ArgfsTer? | |
| ENST00000672052.1:n.510_513del (ARG1) | ||
| ENST00000672233.1:c.209_212del (ARG1) | ENSP00000499826.1:p.Lys70ArgfsTer? | |
| ENST00000673234.1:c.*150_*153del (ARG1) | ENSP00000499885.1:n.*150_*153del | |
| ENST00000673427.1:c.263_266del (ARG1) | ENSP00000500160.1:p.Lys88ArgfsTer17 | |
| ENST00000275196.5:n.247_250del (ARG1) | ||
| ENST00000354577.8:c.4096-4950_4096-4947del (MED23) | ENSP00000346588.4:n.4096-4950_4096-4947del | |
| ENST00000356962.2:c.287_290del (ARG1) | ENSP00000349446.2:p.Lys96ArgfsTer? | |
| ENST00000368087.7:c.263_266del (ARG1) | ENSP00000357066.3:p.Lys88ArgfsTer? | |
| ENST00000469293.1:n.279_282del (ARG1) | ||
| ENST00000484820.1:n.235_238del (ARG1) | ||
| ENST00000498260.1:n.304_307del (ARG1) | ||
| NM_000045.3:c.263_266del (ARG1) | NP_000036.2:p.Lys88ArgfsTer? | |
| NM_001244438.1:c.287_290del (ARG1) | NP_001231367.1:p.Lys96ArgfsTer? | |
| NM_001270521.1:c.4078-4950_4078-4947del (MED23) | NP_001257450.1:n.4078-4950_4078-4947del | |
| NM_015979.3:c.4096-4950_4096-4947del (MED23) | NP_057063.2:n.4096-4950_4096-4947del | |
| XM_011535801.1:c.263_266del (ARG1) | XP_011534103.1:p.Lys88ArgfsTer17 | |
| XM_011535801.2:c.263_266del (ARG1) | XP_011534103.1:p.Lys88ArgfsTer17 | |
| NM_000045.4:c.263_266del (ARG1) MANE Select | NP_000036.2:p.Lys88ArgfsTer? | |
| NM_001244438.2:c.287_290del (ARG1) | NP_001231367.1:p.Lys96ArgfsTer? | |
| NM_001270521.2:c.4078-4950_4078-4947del (MED23) | NP_001257450.1:n.4078-4950_4078-4947del | |
| NM_001369020.1:c.263_266del (ARG1) | NP_001355949.1:p.Lys88ArgfsTer17 | |
| NM_015979.4:c.4096-4950_4096-4947del (MED23) | NP_057063.2:n.4096-4950_4096-4947del | |
| NR_160934.1:n.247_250del (ARG1) |