Linked Data
ClinVar Variation Id:
8912
ClinVar RCV Id:
RCV000009467
dbSNP Id:
rs587776703
gnomAD v2:
12-52200425-CCT-C
gnomAD v3:
12-51806641-CCT-C
gnomAD v4:
12-51806641-CCT-C
PubMed:
PMID:16236810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51806642_51806643del , CM000674.2:g.51806642_51806643del | GRCh38 |
| NC_000012.11:g.52200426_52200427del , CM000674.1:g.52200426_52200427del | GRCh37 |
| NC_000012.10:g.50486693_50486694del | NCBI36 |
| NG_021180.2:g.220407_220408del | |
| NG_021180.3:g.221685_221686del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354534.11:c.5156_5157del MANE Plus Clinical | ENSP00000346534.4:p.Pro1719ArgfsTer6 | |
| ENST00000627620.5:c.5156_5157del MANE Select | ENSP00000487583.2:p.Pro1719ArgfsTer6 | |
| ENST00000636945.2:c.3220_3221del | ||
| ENST00000662684.1:c.5156_5157del | ENSP00000499636.1:p.Pro1719ArgfsTer6 | |
| ENST00000668547.1:c.5033_5034del | ENSP00000499691.1:p.Pro1678ArgfsTer6 | |
| ENST00000354534.10:c.5156_5157del | ENSP00000346534.4:p.Pro1719ArgfsTer6 | |
| ENST00000355133.7:c.5033_5034del | ENSP00000347255.4:p.Pro1678ArgfsTer6 | |
| ENST00000545061.5:c.5033_5034del | ENSP00000440360.1:p.Pro1678ArgfsTer6 | |
| ENST00000599343.5:c.5189_5190del | ENSP00000476447.3:p.Pro1730ArgfsTer6 | |
| ENST00000627620.2:c.5156_5157del | ENSP00000487583.1:p.Pro1719ArgfsTer6 | |
| NM_001177984.2:c.5033_5034del | NP_001171455.1:p.Pro1678ArgfsTer6 | |
| NM_014191.3:c.5156_5157del | NP_055006.1:p.Pro1719ArgfsTer6 | |
| XM_006719556.2:c.5156_5157del | XP_006719619.1:p.Pro1719ArgfsTer6 | |
| XM_011538650.1:c.5156_5157del | XP_011536952.1:p.Pro1719ArgfsTer6 | |
| XM_011538651.1:c.5156_5157del | XP_011536953.1:p.Pro1719ArgfsTer6 | |
| NM_001330260.1:c.5156_5157del | NP_001317189.1:p.Pro1719ArgfsTer6 | |
| XM_006719556.4:c.5156_5157del | XP_006719619.1:p.Pro1719ArgfsTer6 | |
| XM_011538651.3:c.5156_5157del | XP_011536953.1:p.Pro1719ArgfsTer6 | |
| XM_017019794.2:c.5156_5157del | XP_016875283.1:p.Pro1719ArgfsTer6 | |
| XM_017019795.2:c.5033_5034del | XP_016875284.1:p.Pro1678ArgfsTer6 | |
| NM_001330260.2:c.5156_5157del MANE Select | NP_001317189.1:p.Pro1719ArgfsTer6 | |
| NM_001369788.1:c.5033_5034del | NP_001356717.1:p.Pro1678ArgfsTer6 | |
| NM_014191.4:c.5156_5157del MANE Plus Clinical | NP_055006.1:p.Pro1719ArgfsTer6 | |
| NM_001177984.3:c.5033_5034del | NP_001171455.1:p.Pro1678ArgfsTer6 |