Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671066_215671067delinsAA , CM000663.2:g.215671066_215671067delinsAA | GRCh38 |
| NC_000001.10:g.215844408_215844409delinsAA , CM000663.1:g.215844408_215844409delinsAA | GRCh37 |
| NC_000001.9:g.213911031_213911032delinsAA | NCBI36 |
| NG_009497.1:g.757330_757331delinsTT | |
| NG_009497.2:g.757382_757383delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14038_14039delinsTT MANE Select | ENSP00000305941.3:p.Gln4680Leu | |
| ENST00000674083.1:c.14038_14039delinsTT | ENSP00000501296.1:p.Gln4680Leu | |
| ENST00000307340.7:c.14038_14039delinsTT | ENSP00000305941.3:p.Gln4680Leu | |
| NM_206933.2:c.14038_14039delinsTT | NP_996816.2:p.Gln4680Leu | |
| NM_206933.3:c.14038_14039delinsTT | NP_996816.2:p.Gln4680Leu | |
| NM_206933.4:c.14038_14039delinsTT MANE Select | NP_996816.3:p.Gln4680Leu |