Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652457_171652462del , CM000663.2:g.171652457_171652462del | GRCh38 |
| NC_000001.10:g.171621597_171621602del , CM000663.1:g.171621597_171621602del | GRCh37 |
| NC_000001.9:g.169888220_169888225del | NCBI36 |
| NG_008859.1:g.5172_5177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.150_155del MANE Select | ENSP00000037502.5:p.Phe51_Ser52del | |
| ENST00000638471.1:c.130+20_130+25del | ENSP00000491206.1:n.130+20_130+25del | |
| ENST00000037502.10:c.150_155del | ENSP00000037502.5:p.Phe51_Ser52del | |
| ENST00000614688.1:c.150_155del | ENSP00000478680.1:p.Phe51_Ser52del | |
| NM_000261.1:c.150_155del | NP_000252.1:p.Phe51_Ser52del | |
| NM_000261.2:c.150_155del MANE Select | NP_000252.1:p.Phe51_Ser52del |