Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965798_37965799del , CM000670.2:g.37965798_37965799del | GRCh38 |
| NC_000008.10:g.37823316_37823317del , CM000670.1:g.37823316_37823317del | GRCh37 |
| NC_000008.9:g.37942473_37942474del | NCBI36 |
| NG_011936.1:g.5868_5869del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.671_672del MANE Select | ENSP00000343782.3:p.Tyr224CysfsTer? | |
| ENST00000520341.2:n.799_800del | ||
| ENST00000647937.1:c.155_156del | ENSP00000497740.1:p.Tyr52CysfsTer? | |
| ENST00000345060.4:c.671_672del | ENSP00000343782.3:p.Tyr224CysfsTer? | |
| ENST00000614635.1:c.671_672del | ENSP00000480325.1:p.Tyr224CysfsTer? | |
| NM_000025.2:c.671_672del | NP_000016.1:p.Tyr224CysfsTer? | |
| NM_000025.3:c.671_672del MANE Select | NP_000016.1:p.Tyr224CysfsTer? |