Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951905_19951909del , CM000670.2:g.19951905_19951909del | GRCh38 |
| NC_000008.10:g.19809416_19809420del , CM000670.1:g.19809416_19809420del | GRCh37 |
| NC_000008.9:g.19853696_19853700del | NCBI36 |
| NG_008855.1:g.17835_17839del | |
| NG_008855.2:g.55189_55193del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.386_390del MANE Select | ENSP00000497642.1:p.Lys129SerfsTer17 | |
| ENST00000311322.8:c.386_390del | ENSP00000309757.6:p.Lys129SerfsTer17 | |
| ENST00000520959.5:c.158_162del | ENSP00000428496.1:p.Lys53SerfsTer17 | |
| NM_000237.2:c.386_390del | NP_000228.1:p.Lys129SerfsTer17 | |
| NM_000237.3:c.386_390del MANE Select | NP_000228.1:p.Lys129SerfsTer17 |