Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302059_24302060delinsGA , CM000668.2:g.24302059_24302060delinsGA | GRCh38 |
| NC_000006.11:g.24302287_24302288delinsGA , CM000668.1:g.24302287_24302288delinsGA | GRCh37 |
| NC_000006.10:g.24410266_24410267delinsGA | NCBI36 |
| NG_012829.1:g.60993_60994delinsTC | |
| NG_012829.2:g.86233_86234delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-16_349-15delinsTC MANE Select | ENSP00000367715.3:n.349-16_349-15delinsTC | |
| ENST00000378454.7:c.349-16_349-15delinsTC | ENSP00000367715.3:n.349-16_349-15delinsTC | |
| NM_001195610.1:c.349-16_349-15delinsTC | NP_001182539.1:n.349-16_349-15delinsTC | |
| NM_016356.4:c.349-16_349-15delinsTC | NP_057440.2:n.349-16_349-15delinsTC | |
| NM_016356.5:c.349-16_349-15delinsTC MANE Select | NP_057440.2:n.349-16_349-15delinsTC | |
| NM_001195610.2:c.349-16_349-15delinsTC | NP_001182539.1:n.349-16_349-15delinsTC |