Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671162_215671163delinsA , CM000663.2:g.215671162_215671163delinsA | GRCh38 |
| NC_000001.10:g.215844504_215844505delinsA , CM000663.1:g.215844504_215844505delinsA | GRCh37 |
| NC_000001.9:g.213911127_213911128delinsA | NCBI36 |
| NG_009497.1:g.757234_757235delinsT | |
| NG_009497.2:g.757286_757287delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13942_13943delinsT MANE Select | ENSP00000305941.3:p.Gly4648TyrfsTer30 | |
| ENST00000674083.1:c.13942_13943delinsT | ENSP00000501296.1:p.Gly4648TyrfsTer30 | |
| ENST00000307340.7:c.13942_13943delinsT | ENSP00000305941.3:p.Gly4648TyrfsTer30 | |
| NM_206933.2:c.13942_13943delinsT | NP_996816.2:p.Gly4648TyrfsTer30 | |
| NM_206933.3:c.13942_13943delinsT | NP_996816.2:p.Gly4648TyrfsTer30 | |
| NM_206933.4:c.13942_13943delinsT MANE Select | NP_996816.3:p.Gly4648TyrfsTer30 |