Linked Data
ClinVar Variation Id:
418706
ClinVar RCV Id:
RCV000479864
dbSNP Id:
rs1064793380
gnomAD v4:
8-116848998-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116848999del , CM000670.2:g.116848999del | GRCh38 |
| NC_000008.10:g.117861238del , CM000670.1:g.117861238del | GRCh37 |
| NC_000008.9:g.117930419del | NCBI36 |
| NG_032862.1:g.30868del , LRG_772:g.30868del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517485.6:c.1651del (RAD21) | ENSP00000427923.2:p.Gln551ArgfsTer? | |
| ENST00000517749.2:c.1651del (RAD21) | ENSP00000430273.2:p.Gln551ArgfsTer? | |
| ENST00000519837.6:c.1651del (RAD21) | ENSP00000430524.2:p.Gln551ArgfsTer? | |
| ENST00000520992.6:c.1651del (RAD21) | ENSP00000429342.2:p.Gln551ArgfsTer? | |
| ENST00000522699.2:c.1651del (RAD21) | ENSP00000428158.2:p.Gln551ArgfsTer? | |
| ENST00000523547.2:n.1761del (RAD21) | ||
| ENST00000523986.6:n.4620del (RAD21) | ||
| ENST00000685972.1:n.4954del (RAD21) | ||
| ENST00000686622.1:n.5011del (RAD21) | ||
| ENST00000687122.1:n.4479del (RAD21) | ||
| ENST00000687358.1:c.1651del (RAD21) | ENSP00000509687.1:p.Gln551ArgfsTer? | |
| ENST00000687902.1:c.*26del (RAD21) | ENSP00000510729.1:n.*26del | |
| ENST00000688033.1:n.6477del (RAD21) | ||
| ENST00000689124.1:n.1865del (RAD21) | ||
| ENST00000689154.1:n.289del (RAD21) | ||
| ENST00000690166.1:n.5266del (RAD21) | ||
| ENST00000690189.1:n.8222del (RAD21) | ||
| ENST00000297338.7:c.1651del (RAD21) MANE Select | ENSP00000297338.2:p.Gln551ArgfsTer? | |
| ENST00000297338.6:c.1651del (RAD21) | ENSP00000297338.2:p.Gln551ArgfsTer? | |
| ENST00000517749.1:c.-36del (RAD21) | ENSP00000430273.1:n.-36del | |
| ENST00000517820.1:c.300del (UTP23) | ENSP00000427767.1:p.Ile101SerfsTer2 | |
| ENST00000518055.1:c.286del (RAD21) | ENSP00000428003.1:p.Gln96ArgfsTer? | |
| ENST00000520733.5:c.157del (UTP23) | ENSP00000429384.1:p.Asp53IlefsTer6 | |
| ENST00000521703.5:c.*204del (UTP23) | ENSP00000428455.1:n.*204del | |
| ENST00000523986.5:c.163del (RAD21) | ENSP00000428513.1:p.Gln55ArgfsTer? | |
| ENST00000524128.1:c.*204del (UTP23) | ENSP00000430309.1:n.*204del | |
| NM_006265.2:c.1651del , LRG_772t1:c.1651del (RAD21) | NP_006256.1:p.Gln551ArgfsTer? | |
| NM_006265.3:c.1651del (RAD21) MANE Select | NP_006256.1:p.Gln551ArgfsTer? |