Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966004_37966005del , CM000670.2:g.37966004_37966005del | GRCh38 |
| NC_000008.10:g.37823522_37823523del , CM000670.1:g.37823522_37823523del | GRCh37 |
| NC_000008.9:g.37942679_37942680del | NCBI36 |
| NG_011936.1:g.5662_5663del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.465_466del MANE Select | NP_000016.1:p.Thr156SerfsTer? |
| ENST00000345060.5:c.465_466del MANE Select | ENSP00000343782.3:p.Thr156SerfsTer? |
| NM_000025.2:c.465_466del | NP_000016.1:p.Thr156SerfsTer? |
| ENST00000345060.4:c.465_466del | ENSP00000343782.3:p.Thr156SerfsTer? |
| ENST00000520341.2:n.593_594del | |
| ENST00000614635.1:c.465_466del | ENSP00000480325.1:p.Thr156SerfsTer? |