Linked Data
ClinVar Variation Id:
2678766
ClinVar RCV Id:
RCV003472757
dbSNP Id:
rs753049782
ExAC:
6:74310082 TC / T
gnomAD v2:
6-74310082-TC-T
gnomAD v3:
6-73600359-TC-T
gnomAD v4:
6-73600359-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600360del , CM000668.2:g.73600360del | GRCh38 |
| NC_000006.11:g.74310083del , CM000668.1:g.74310083del | GRCh37 |
| NC_000006.10:g.74366804del | NCBI36 |
| NG_008272.1:g.58655del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1341del MANE Select | ENSP00000348019.5:p.Thr448ProfsTer? | |
| ENST00000355773.5:c.1341del | ENSP00000348019.5:p.Thr448ProfsTer? | |
| NM_012434.4:c.1341del | NP_036566.1:p.Thr448ProfsTer? | |
| XM_005248710.2:c.1290del | XP_005248767.1:p.Thr431ProfsTer? | |
| XM_005248711.1:c.1143del | XP_005248768.1:p.Thr382ProfsTer? | |
| XM_011535750.1:c.1193del | XP_011534052.1:p.Ter398TyrextTer3 | |
| NM_012434.5:c.1341del MANE Select | NP_036566.1:p.Thr448ProfsTer? | |
| NM_001382629.1:c.1110del | NP_001369558.1:p.Thr371ProfsTer? | |
| NM_001382630.1:c.1260-5146del | NP_001369559.1:n.1260-5146del | |
| NM_001382631.1:c.1362del | NP_001369560.1:p.Thr455ProfsTer? | |
| NM_001382632.1:c.1254del | NP_001369561.1:p.Thr419ProfsTer? | |
| NM_001382633.1:c.1341del | NP_001369562.1:p.Thr448ProfsTer? | |
| NM_001382634.1:c.1182del | NP_001369563.1:p.Thr395ProfsTer? | |
| NM_001382635.1:c.1338del | NP_001369564.1:p.Thr447ProfsTer? | |
| NM_001382636.1:c.1023del | NP_001369565.1:p.Thr342ProfsTer? |