Linked Data
gnomAD v4:
1-154571683-TGCCTCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571684_154571690del , CM000663.2:g.154571684_154571690del | GRCh38 |
| NC_000001.10:g.154544160_154544166del , CM000663.1:g.154544160_154544166del | GRCh37 |
| NC_000001.9:g.152810784_152810790del | NCBI36 |
| NG_008027.1:g.8904_8910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.861_867del MANE Select | ENSP00000357461.3:p.Thr290SerfsTer? | |
| ENST00000636034.1:c.861_867del | ENSP00000489703.1:p.Thr290SerfsTer? | |
| ENST00000637900.1:c.867_873del | ENSP00000490474.1:p.Thr292SerfsTer? | |
| ENST00000368476.3:c.861_867del | ENSP00000357461.3:p.Thr290SerfsTer? | |
| NM_000748.2:c.861_867del | NP_000739.1:p.Thr290SerfsTer? | |
| XM_017000180.2:c.351_357del | XP_016855669.1:p.Thr120SerfsTer? | |
| XR_001736952.2:n.1113_1119del | ||
| NM_000748.3:c.861_867del MANE Select | NP_000739.1:p.Thr290SerfsTer? |