Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114856_140114857insA , CM000667.2:g.140114856_140114857insA | GRCh38 |
| NC_000005.9:g.139494441_139494442insA , CM000667.1:g.139494441_139494442insA | GRCh37 |
| NC_000005.8:g.139474625_139474626insA | NCBI36 |
| NG_041813.1:g.5734_5735insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.675_676insA MANE Select | ENSP00000332706.3:p.Val226SerfsTer? | |
| ENST00000651386.1:c.675_676insA | ENSP00000499133.1:p.Val226SerfsTer? | |
| ENST00000331327.4:c.675_676insA | ENSP00000332706.3:p.Val226SerfsTer? | |
| NM_005859.4:c.675_676insA | NP_005850.1:p.Val226SerfsTer? | |
| NM_005859.5:c.675_676insA MANE Select | NP_005850.1:p.Val226SerfsTer? |