Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965733_37965742del , CM000670.2:g.37965733_37965742del | GRCh38 |
| NC_000008.10:g.37823251_37823260del , CM000670.1:g.37823251_37823260del | GRCh37 |
| NC_000008.9:g.37942408_37942417del | NCBI36 |
| NG_011936.1:g.5928_5937del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.731_740del MANE Select | NP_000016.1:p.Arg244ProfsTer? |
| ENST00000345060.5:c.731_740del MANE Select | ENSP00000343782.3:p.Arg244ProfsTer? |
| NM_000025.2:c.731_740del | NP_000016.1:p.Arg244ProfsTer? |
| ENST00000345060.4:c.731_740del | ENSP00000343782.3:p.Arg244ProfsTer? |
| ENST00000520341.1:n.6_15del | |
| ENST00000520341.2:n.859_868del | |
| ENST00000614635.1:c.731_740del | ENSP00000480325.1:p.Arg244ProfsTer? |
| ENST00000647937.1:c.215_224del | ENSP00000497740.1:p.Arg72ProfsTer? |