Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50470559_50470570del , CM000685.2:g.50470559_50470570del | GRCh38 |
| NC_000023.10:g.50213558_50213569del , CM000685.1:g.50213558_50213569del | GRCh37 |
| NC_000023.9:g.50230298_50230309del | NCBI36 |
| NG_033143.2:g.5166_5177del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013742.4:c.122_133del MANE Select | NP_001013764.1:p.Pro41_Pro44del |
| ENST00000611977.2:c.122_133del MANE Select | ENSP00000477515.1:p.Pro41_Pro44del |
| NM_001013742.3:c.122_133del | NP_001013764.1:p.Pro41_Pro44del |
| ENST00000611977.1:c.122_133del | ENSP00000477515.1:p.Pro41_Pro44del |
| XM_017029268.2:c.122_133del | XP_016884757.1:p.Pro41_Pro44del |