Linked Data
gnomAD v4:
1-154571698-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571699del , CM000663.2:g.154571699del | GRCh38 |
| NC_000001.10:g.154544175del , CM000663.1:g.154544175del | GRCh37 |
| NC_000001.9:g.152810799del | NCBI36 |
| NG_008027.1:g.8919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.876del MANE Select | ENSP00000357461.3:p.Asp293ThrfsTer? | |
| ENST00000636034.1:c.876del | ENSP00000489703.1:p.Asp293ThrfsTer? | |
| ENST00000637900.1:c.882del | ENSP00000490474.1:p.Asp295ThrfsTer? | |
| ENST00000368476.3:c.876del | ENSP00000357461.3:p.Asp293ThrfsTer? | |
| NM_000748.2:c.876del | NP_000739.1:p.Asp293ThrfsTer? | |
| XM_017000180.2:c.366del | XP_016855669.1:p.Asp123ThrfsTer? | |
| XR_001736952.2:n.1128del | ||
| NM_000748.3:c.876del MANE Select | NP_000739.1:p.Asp293ThrfsTer? |