Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38683055_38683056delinsAC , CM000668.2:g.38683055_38683056delinsAC | GRCh38 |
| NC_000006.11:g.38650831_38650832delinsAC , CM000668.1:g.38650831_38650832delinsAC | GRCh37 |
| NC_000006.10:g.38758809_38758810delinsAC | NCBI36 |
| NG_012074.1:g.25121_25122delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-181_309-180delinsGT MANE Select | ENSP00000362463.3:n.309-181_309-180delinsGT | |
| ENST00000373365.4:c.309-181_309-180delinsGT | ENSP00000362463.3:n.309-181_309-180delinsGT | |
| ENST00000470973.1:n.160_161delinsGT | ||
| NM_006708.2:c.309-181_309-180delinsGT | NP_006699.2:n.309-181_309-180delinsGT | |
| NM_006708.3:c.309-181_309-180delinsGT MANE Select | NP_006699.2:n.309-181_309-180delinsGT |