Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721919_42721921del , CM000668.2:g.42721919_42721921del | GRCh38 |
| NC_000006.11:g.42689657_42689659del , CM000668.1:g.42689657_42689659del | GRCh37 |
| NC_000006.10:g.42797635_42797637del | NCBI36 |
| NG_009176.1:g.5701_5703del | |
| NG_009176.2:g.5701_5703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.415_417del MANE Select | ENSP00000230381.5:p.Lys139del | |
| ENST00000230381.6:c.415_417del | ENSP00000230381.5:p.Lys139del | |
| NM_000322.4:c.415_417del | NP_000313.2:p.Lys139del | |
| XR_427834.2:n.1070_1072del | ||
| XR_926295.1:n.1070_1072del | ||
| XR_427834.4:n.1120_1122del | ||
| XR_926295.3:n.1120_1122del | ||
| NM_000322.5:c.415_417del MANE Select | NP_000313.2:p.Lys139del |