Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965819_37965820del , CM000670.2:g.37965819_37965820del | GRCh38 |
| NC_000008.10:g.37823337_37823338del , CM000670.1:g.37823337_37823338del | GRCh37 |
| NC_000008.9:g.37942494_37942495del | NCBI36 |
| NG_011936.1:g.5847_5848del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.650_651del MANE Select | NP_000016.1:p.Leu217ProfsTer? |
| ENST00000345060.5:c.650_651del MANE Select | ENSP00000343782.3:p.Leu217ProfsTer? |
| NM_000025.2:c.650_651del | NP_000016.1:p.Leu217ProfsTer? |
| ENST00000345060.4:c.650_651del | ENSP00000343782.3:p.Leu217ProfsTer? |
| ENST00000520341.2:n.778_779del | |
| ENST00000614635.1:c.650_651del | ENSP00000480325.1:p.Leu217ProfsTer? |
| ENST00000647937.1:c.134_135del | ENSP00000497740.1:p.Leu45ProfsTer? |