Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965790del , CM000670.2:g.37965790del | GRCh38 |
| NC_000008.10:g.37823308del , CM000670.1:g.37823308del | GRCh37 |
| NC_000008.9:g.37942465del | NCBI36 |
| NG_011936.1:g.5880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.683del MANE Select | ENSP00000343782.3:p.Phe228SerfsTer? | |
| ENST00000520341.2:n.811del | ||
| ENST00000647937.1:c.167del | ENSP00000497740.1:p.Phe56SerfsTer? | |
| ENST00000345060.4:c.683del | ENSP00000343782.3:p.Phe228SerfsTer? | |
| ENST00000614635.1:c.683del | ENSP00000480325.1:p.Phe228SerfsTer? | |
| NM_000025.2:c.683del | NP_000016.1:p.Phe228SerfsTer? | |
| NM_000025.3:c.683del MANE Select | NP_000016.1:p.Phe228SerfsTer? |