Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400772_18400774delinsACT , CM000670.2:g.18400772_18400774delinsACT | GRCh38 |
| NC_000008.10:g.18258282_18258284delinsACT , CM000670.1:g.18258282_18258284delinsACT | GRCh37 |
| NC_000008.9:g.18302562_18302564delinsACT | NCBI36 |
| NG_012246.1:g.14528_14530delinsACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.769_771delinsACT MANE Select | ENSP00000286479.3:p.Thr257= | |
| ENST00000286479.3:c.769_771delinsACT | ENSP00000286479.3:p.Thr257= | |
| ENST00000520116.1:c.379_381delinsACT | ENSP00000428416.1:p.Thr127= | |
| NM_000015.2:c.769_771delinsACT | NP_000006.2:p.Thr257= | |
| XM_011544358.1:c.769_771delinsACT | XP_011542660.1:p.Thr257= | |
| XM_017012938.1:c.769_771delinsACT | XP_016868427.1:p.Thr257= | |
| NM_000015.3:c.769_771delinsACT MANE Select | NP_000006.2:p.Thr257= |