Linked Data
ClinVar Variation Id:
421178
ClinVar RCV Id:
RCV000485670
dbSNP Id:
rs1064794961
PubMed:
PMID:29162653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129840975_129840987del , CM000672.2:g.129840975_129840987del | GRCh38 |
| NC_000010.10:g.131639239_131639251del , CM000672.1:g.131639239_131639251del | GRCh37 |
| NC_000010.9:g.131529229_131529241del | NCBI36 |
| NG_030038.1:g.127852_127864del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355311.10:c.1429_1441del | ENSP00000347463.4:p.Thr477ProfsTer10 | |
| ENST00000368648.8:c.1402_1414del | ENSP00000357637.3:p.Thr468ProfsTer10 | |
| ENST00000440978.2:c.1429_1441del MANE Select | ENSP00000387543.2:p.Thr477ProfsTer10 | |
| ENST00000675373.1:n.1074_1086del | ||
| ENST00000355311.9:c.1429_1441del | ENSP00000347463.4:p.Thr477ProfsTer10 | |
| ENST00000368648.7:c.1402_1414del | ENSP00000357637.3:p.Thr468ProfsTer10 | |
| ENST00000440978.1:c.113_125del | ||
| NM_001005463.2:c.1402_1414del | NP_001005463.1:p.Thr468ProfsTer10 | |
| XM_005252667.2:c.1402_1414del | XP_005252724.1:p.Thr468ProfsTer10 | |
| XM_005252668.2:c.1429_1441del | XP_005252725.1:p.Thr477ProfsTer10 | |
| XM_005252669.2:c.1402_1414del | XP_005252726.1:p.Thr468ProfsTer10 | |
| XM_006717739.2:c.1429_1441del | XP_006717802.1:p.Thr477ProfsTer10 | |
| XM_006717740.2:c.1429_1441del | XP_006717803.1:p.Thr477ProfsTer10 | |
| XM_006717741.2:c.1429_1441del | XP_006717804.1:p.Thr477ProfsTer10 | |
| XM_006717742.2:c.1429_1441del | XP_006717805.1:p.Thr477ProfsTer10 | |
| XM_006717743.2:c.1429_1441del | XP_006717806.1:p.Thr477ProfsTer10 | |
| XM_006717744.2:c.1373-642_1373-630del | XP_006717807.1:n.1373-642_1373-630del | |
| XM_011539574.1:c.1144_1156del | XP_011537876.1:p.Thr382ProfsTer10 | |
| XM_011539575.1:c.913_925del | XP_011537877.1:p.Thr305ProfsTer10 | |
| XM_005252667.3:c.1402_1414del | XP_005252724.1:p.Thr468ProfsTer10 | |
| XM_005252668.3:c.1429_1441del | XP_005252725.1:p.Thr477ProfsTer10 | |
| XM_005252669.3:c.1402_1414del | XP_005252726.1:p.Thr468ProfsTer10 | |
| XM_006717739.3:c.1429_1441del | XP_006717802.1:p.Thr477ProfsTer10 | |
| XM_006717740.3:c.1429_1441del | XP_006717803.1:p.Thr477ProfsTer10 | |
| XM_006717741.3:c.1429_1441del | XP_006717804.1:p.Thr477ProfsTer10 | |
| XM_006717742.3:c.1429_1441del | XP_006717805.1:p.Thr477ProfsTer10 | |
| XM_006717743.3:c.1429_1441del | XP_006717806.1:p.Thr477ProfsTer10 | |
| XM_006717744.3:c.1373-642_1373-630del | XP_006717807.1:n.1373-642_1373-630del | |
| XM_011539574.2:c.1144_1156del | XP_011537876.1:p.Thr382ProfsTer10 | |
| XM_011539575.2:c.913_925del | XP_011537877.1:p.Thr305ProfsTer10 | |
| XM_017016027.1:c.1373-642_1373-630del | XP_016871516.1:n.1373-642_1373-630del | |
| XR_001747076.1:n.1908_1920del | ||
| NM_001005463.3:c.1402_1414del | NP_001005463.1:p.Thr468ProfsTer10 | |
| NM_001375379.1:c.1429_1441del | NP_001362308.1:p.Thr477ProfsTer10 | |
| NM_001375380.1:c.1429_1441del MANE Select | NP_001362309.1:p.Thr477ProfsTer10 | |
| NM_001375389.1:c.1429_1441del | NP_001362318.1:p.Thr477ProfsTer10 | |
| NM_001375390.1:c.1402_1414del | NP_001362319.1:p.Thr468ProfsTer10 | |
| NM_001375391.1:c.1429_1441del | NP_001362320.1:p.Thr477ProfsTer10 | |
| NM_001375392.1:c.1346-534_1346-522del | NP_001362321.1:n.1346-534_1346-522del |