Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177995895_177995897del , CM000667.2:g.177995895_177995897del | GRCh38 |
| NC_000005.9:g.177422896_177422898del , CM000667.1:g.177422896_177422898del | GRCh37 |
| NC_000005.8:g.177355502_177355504del | NCBI36 |
| NG_015889.1:g.5349_5351del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006261.5:c.40_42del MANE Select | NP_006252.4:p.Lys14del |
| ENST00000308304.2:c.40_42del MANE Select | ENSP00000311290.2:p.Lys14del |
| NM_006261.4:c.40_42del | NP_006252.3:p.Lys14del |