Linked Data
ClinVar Variation Id:
426336
ClinVar RCV Id:
RCV002481552
dbSNP Id:
rs1085307573
gnomAD v4:
14-81091090-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81091094del , CM000676.2:g.81091094del | GRCh38 |
| NC_000014.8:g.81557438del , CM000676.1:g.81557438del | GRCh37 |
| NC_000014.7:g.80627191del | NCBI36 |
| NG_009206.1:g.140570del , LRG_523:g.140570del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.418del MANE Select | ENSP00000298171.2:p.Met140CysfsTer5 | |
| ENST00000636454.1:n.336del | ||
| ENST00000298171.6:c.418del | ENSP00000298171.2:p.Met140CysfsTer5 | |
| ENST00000342443.10:c.418del | ENSP00000340113.6:p.Met140CysfsTer5 | |
| ENST00000541158.6:c.418del | ENSP00000441235.2:p.Met140CysfsTer5 | |
| ENST00000554263.5:c.418del | ENSP00000451202.1:p.Met140CysfsTer5 | |
| ENST00000554435.1:c.418del | ENSP00000450549.1:p.Met140CysfsTer5 | |
| ENST00000555326.5:c.*128del | ENSP00000451092.1:n.*128del | |
| NM_000369.2:c.418del , LRG_523t1:c.418del | NP_000360.2:p.Met140CysfsTer5 | |
| NM_001018036.2:c.418del | NP_001018046.1:p.Met140CysfsTer5 | |
| NM_001142626.2:c.418del | NP_001136098.1:p.Met140CysfsTer5 | |
| XM_005268037.3:c.418del | XP_005268094.1:p.Met140CysfsTer5 | |
| XM_005268039.1:c.418del | XP_005268096.1:p.Met140CysfsTer5 | |
| XM_006720245.1:c.418del | XP_006720308.1:p.Met140CysfsTer5 | |
| XM_011537119.1:c.139del | XP_011535421.1:p.Met47CysfsTer5 | |
| XR_245790.3:n.2480+2491del | ||
| XR_944075.1:n.1353+1223del | ||
| XR_944076.1:n.1255+2491del | ||
| XR_944077.1:n.1259+2491del | ||
| XR_944078.1:n.1259+2491del | ||
| XM_005268037.4:c.418del | XP_005268094.1:p.Met140CysfsTer5 | |
| XM_011537119.2:c.139del | XP_011535421.1:p.Met47CysfsTer5 | |
| XR_001751018.2:n.793+1223del | ||
| XR_001751019.2:n.699+2491del | ||
| XR_001751020.2:n.699+2491del | ||
| XR_001751021.1:n.3241+1223del | ||
| XR_001751022.1:n.3147+2491del | ||
| XR_001751023.1:n.3280+2491del | ||
| XR_001751024.2:n.793+1223del | ||
| XR_944075.3:n.1417+1223del | ||
| NM_000369.4:c.418del | NP_000360.2:p.Met140CysfsTer5 | |
| NM_001018036.3:c.418del | NP_001018046.1:p.Met140CysfsTer5 | |
| NM_001142626.3:c.418del | NP_001136098.1:p.Met140CysfsTer5 | |
| NM_000369.5:c.418del MANE Select | NP_000360.2:p.Met140CysfsTer5 |