Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951905_19951908del , CM000670.2:g.19951905_19951908del | GRCh38 |
| NC_000008.10:g.19809416_19809419del , CM000670.1:g.19809416_19809419del | GRCh37 |
| NC_000008.9:g.19853696_19853699del | NCBI36 |
| NG_008855.1:g.17835_17838del | |
| NG_008855.2:g.55189_55192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.386_389del MANE Select | ENSP00000497642.1:p.Lys129ArgfsTer? | |
| ENST00000311322.8:c.386_389del | ENSP00000309757.6:p.Lys129ArgfsTer? | |
| ENST00000520959.5:c.158_161del | ENSP00000428496.1:p.Lys53ArgfsTer? | |
| ENST00000524029.5:c.386_389del | ENSP00000428237.1:p.Lys129= | |
| NM_000237.2:c.386_389del | NP_000228.1:p.Lys129ArgfsTer? | |
| NM_000237.3:c.386_389del MANE Select | NP_000228.1:p.Lys129ArgfsTer? |