Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132127805_132127807del , CM000685.2:g.132127805_132127807del | GRCh38 |
| NC_000023.10:g.131261833_131261835del , CM000685.1:g.131261833_131261835del | GRCh37 |
| NC_000023.9:g.131089514_131089516del | NCBI36 |
| NG_012347.1:g.5219_5221del , LRG_867:g.5219_5221del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194277.3:c.41_43del MANE Select | NP_919253.1:p.Lys14del |
| ENST00000298542.9:c.41_43del MANE Select | ENSP00000298542.3:p.Lys14del |
| NM_001306193.1:c.41_43del | NP_001293122.1:p.Lys14del |
| NM_001306193.2:c.41_43del | NP_001293122.1:p.Lys14del |
| NM_194277.2:c.41_43del , LRG_867t1:c.41_43del | NP_919253.1:p.Lys14del |
| ENST00000298542.8:c.41_43del | ENSP00000298542.3:p.Lys14del |
| ENST00000464296.1:c.41_43del | ENSP00000417996.1:p.Lys14del |
| XM_017029948.2:c.13_15del | XP_016885437.1:p.Arg5del |