Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766753_215766754insTA , CM000663.2:g.215766753_215766754insTA | GRCh38 |
| NC_000001.10:g.215940095_215940096insTA , CM000663.1:g.215940095_215940096insTA | GRCh37 |
| NC_000001.9:g.214006718_214006719insTA | NCBI36 |
| NG_009497.1:g.661643_661644insTA | |
| NG_009497.2:g.661695_661696insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10974_10975insTA MANE Select | ENSP00000305941.3:p.Thr3659Ter | |
| ENST00000674083.1:c.10974_10975insTA | ENSP00000501296.1:p.Thr3659Ter | |
| ENST00000307340.7:c.10974_10975insTA | ENSP00000305941.3:p.Thr3659Ter | |
| NM_206933.2:c.10974_10975insTA | NP_996816.2:p.Thr3659Ter | |
| NM_206933.3:c.10974_10975insTA | NP_996816.2:p.Thr3659Ter | |
| NM_206933.4:c.10974_10975insTA MANE Select | NP_996816.3:p.Thr3659Ter |