Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658580_24658581insA , CM000668.2:g.24658580_24658581insA | GRCh38 |
| NC_000006.11:g.24658808_24658809insA , CM000668.1:g.24658808_24658809insA | GRCh37 |
| NC_000006.10:g.24766787_24766788insA | NCBI36 |
| NG_052787.1:g.13307_13308insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.405_406insT MANE Select | ENSP00000367440.4:p.Val136CysfsTer24 | |
| ENST00000341060.3:c.231_232insT | ENSP00000345345.3:p.Val78CysfsTer24 | |
| ENST00000378198.8:c.405_406insT | ENSP00000367440.4:p.Val136CysfsTer24 | |
| ENST00000478285.1:n.592_593insT | ||
| ENST00000478507.1:n.320-5428_320-5427insT | ||
| NM_016614.2:c.405_406insT | NP_057698.2:p.Val136CysfsTer24 | |
| XR_926244.1:n.532_533insT | ||
| NM_016614.3:c.405_406insT MANE Select | NP_057698.2:p.Val136CysfsTer24 |