Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199703_27199705del , CM000669.2:g.27199703_27199705del | GRCh38 |
| NC_000007.13:g.27239322_27239324del , CM000669.1:g.27239322_27239324del | GRCh37 |
| NC_000007.12:g.27205847_27205849del | NCBI36 |
| NG_008181.1:g.5404_5406del | |
| NG_008181.2:g.5404_5406del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649031.1:c.375_377del MANE Select | ENSP00000497112.1:p.Ala126del | |
| ENST00000222753.5:c.375_377del | ENSP00000222753.4:p.Ala126del | |
| NM_000522.4:c.375_377del | NP_000513.2:p.Ala126del | |
| XM_011515344.1:c.375_377del | XP_011513646.1:p.Ala126del | |
| NM_000522.5:c.375_377del MANE Select | NP_000513.2:p.Ala126del |