Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904040_154904045del , CM000685.2:g.154904040_154904045del | GRCh38 |
| NC_000023.10:g.154132315_154132320del , CM000685.1:g.154132315_154132320del | GRCh37 |
| NC_000023.9:g.153785509_153785514del | NCBI36 |
| NG_011403.1:g.123681_123686del | |
| NG_011403.2:g.123681_123686del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5861_5866del MANE Select | ENSP00000353393.4:p.Ala1954_Gln1955del | |
| ENST00000360256.8:c.5861_5866del | ENSP00000353393.4:p.Ala1954_Gln1955del | |
| NM_000132.3:c.5861_5866del | NP_000123.1:p.Ala1954_Gln1955del | |
| XM_011531126.1:c.5756_5761del | XP_011529428.1:p.Ala1919_Gln1920del | |
| NM_000132.4:c.5861_5866del MANE Select | NP_000123.1:p.Ala1954_Gln1955del |