Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794454_77794456delinsAAC , CM000671.2:g.77794454_77794456delinsAAC | GRCh38 |
| NC_000009.11:g.80409370_80409372delinsAAC , CM000671.1:g.80409370_80409372delinsAAC | GRCh37 |
| NC_000009.10:g.79599190_79599192delinsAAC | NCBI36 |
| NG_027904.2:g.241848_241850delinsGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.735+7_735+9delinsGTT MANE Select | ENSP00000286548.4:n.735+7_735+9delinsGTT | |
| ENST00000286548.8:c.735+7_735+9delinsGTT | ENSP00000286548.4:n.735+7_735+9delinsGTT | |
| NM_002072.4:c.735+7_735+9delinsGTT | NP_002063.2:n.735+7_735+9delinsGTT | |
| XM_017014628.2:c.561+7_561+9delinsGTT | XP_016870117.1:n.561+7_561+9delinsGTT | |
| NM_002072.5:c.735+7_735+9delinsGTT MANE Select | NP_002063.2:n.735+7_735+9delinsGTT |