Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312775_118312776del , CM000673.2:g.118312775_118312776del | GRCh38 |
| NC_000011.9:g.118183490_118183491del , CM000673.1:g.118183490_118183491del | GRCh37 |
| NC_000011.8:g.117688700_117688701del | NCBI36 |
| NG_007383.1:g.13196_13197del , LRG_38:g.13196_13197del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000733.4:c.261_262del MANE Select | NP_000724.1:p.Ser88ArgfsTer? |
| ENST00000361763.9:c.261_262del MANE Select | ENSP00000354566.4:p.Ser88ArgfsTer? |
| NM_000733.3:c.261_262del , LRG_38t1:c.261_262del | NP_000724.1:p.Ser88ArgfsTer? |
| ENST00000361763.8:c.261_262del | ENSP00000354566.4:p.Ser88ArgfsTer? |
| ENST00000526146.5:n.807_808del | |
| ENST00000528435.5:n.814_815del | |
| ENST00000528600.1:c.243_244del | ENSP00000433975.1:p.Ser82ArgfsTer? |
| ENST00000529713.5:n.367_368del | |
| ENST00000531913.1:n.632_633del |