Linked Data
gnomAD v4:
1-154571694-TCCCTCGACGTGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571695_154571707del , CM000663.2:g.154571695_154571707del | GRCh38 |
| NC_000001.10:g.154544171_154544183del , CM000663.1:g.154544171_154544183del | GRCh37 |
| NC_000001.9:g.152810795_152810807del | NCBI36 |
| NG_008027.1:g.8915_8927del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.872_884del MANE Select | ENSP00000357461.3:p.Ser291CysfsTer? | |
| ENST00000636034.1:c.872_884del | ENSP00000489703.1:p.Ser291CysfsTer? | |
| ENST00000637900.1:c.878_890del | ENSP00000490474.1:p.Ser293CysfsTer? | |
| ENST00000368476.3:c.872_884del | ENSP00000357461.3:p.Ser291CysfsTer? | |
| NM_000748.2:c.872_884del | NP_000739.1:p.Ser291CysfsTer? | |
| XM_017000180.2:c.362_374del | XP_016855669.1:p.Ser121CysfsTer? | |
| XR_001736952.2:n.1124_1136del | ||
| NM_000748.3:c.872_884del MANE Select | NP_000739.1:p.Ser291CysfsTer? |