Linked Data
gnomAD v4:
1-154571664-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571665del , CM000663.2:g.154571665del | GRCh38 |
| NC_000001.10:g.154544141del , CM000663.1:g.154544141del | GRCh37 |
| NC_000001.9:g.152810765del | NCBI36 |
| NG_008027.1:g.8885del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.842del MANE Select | ENSP00000357461.3:p.Leu281ArgfsTer? | |
| ENST00000636034.1:c.842del | ENSP00000489703.1:p.Leu281ArgfsTer? | |
| ENST00000637900.1:c.848del | ENSP00000490474.1:p.Leu283ArgfsTer? | |
| ENST00000368476.3:c.842del | ENSP00000357461.3:p.Leu281ArgfsTer? | |
| NM_000748.2:c.842del | NP_000739.1:p.Leu281ArgfsTer? | |
| XM_017000180.2:c.332del | XP_016855669.1:p.Leu111ArgfsTer? | |
| XR_001736952.2:n.1094del | ||
| NM_000748.3:c.842del MANE Select | NP_000739.1:p.Leu281ArgfsTer? |