Linked Data
dbSNP Id:
rs753905693
ExAC:
16:5077994 TCC / T
gnomAD v2:
16-5077994-TCC-T
gnomAD v4:
16-5027993-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5027994_5027995del , CM000678.2:g.5027994_5027995del | GRCh38 |
| NC_000016.9:g.5077995_5077996del , CM000678.1:g.5077995_5077996del | GRCh37 |
| NC_000016.8:g.5017996_5017997del | NCBI36 |
| NG_028152.1:g.10947_10948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.1111_1112del MANE Select | ENSP00000310998.3:p.Gly371ThrfsTer10 | |
| ENST00000649828.1:c.*283_*284del | ENSP00000498032.1:n.*283_*284del | |
| ENST00000312251.7:c.1111_1112del | ENSP00000310998.3:p.Gly371ThrfsTer10 | |
| ENST00000381955.7:c.1111_1112del | ENSP00000371381.3:p.Gly371ThrfsTer10 | |
| ENST00000562746.5:c.*283_*284del | ENSP00000455900.1:n.*283_*284del | |
| ENST00000563578.5:c.738+885_738+886del | ||
| ENST00000564397.5:n.2164_2165del | ||
| ENST00000565876.5:c.481-616_481-615del | ||
| ENST00000566137.5:n.409_410del | ||
| ENST00000567739.5:n.430_431del | ||
| ENST00000568202.5:n.974_975del | ||
| ENST00000569296.5:c.724_725del | ENSP00000465949.1:n.724_725del | |
| NM_016256.3:c.1111_1112del | NP_057340.2:p.Gly371ThrfsTer10 | |
| XM_011522517.1:c.1111_1112del | XP_011520819.1:p.Gly371ThrfsTer10 | |
| XR_243285.1:n.1207_1208del | ||
| XM_011522517.3:c.1111_1112del | XP_011520819.1:p.Gly371ThrfsTer10 | |
| XR_001751908.2:n.1206_1207del | ||
| XR_001751909.2:n.1210_1211del | ||
| XR_001751910.2:n.1239_1240del | ||
| XR_001751911.2:n.1239_1240del | ||
| XR_001751912.2:n.1243_1244del | ||
| NM_016256.4:c.1111_1112del MANE Select | NP_057340.2:p.Gly371ThrfsTer10 |