Linked Data
ClinVar Variation Id:
689786
ClinVar RCV Id:
RCV000850598
dbSNP Id:
rs1583595091
gnomAD v4:
6-158146830-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158146832del , CM000668.2:g.158146832del | GRCh38 |
| NC_000006.11:g.158567864del , CM000668.1:g.158567864del | GRCh37 |
| NC_000006.10:g.158487852del | NCBI36 |
| NG_032889.1:g.26450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*272del | ENSP00000475855.1:n.*272del | |
| ENST00000642244.1:c.348del | ENSP00000493554.1:p.Thr117ArgfsTer22 | |
| ENST00000642903.1:c.438del | ENSP00000493559.1:p.Thr147ArgfsTer22 | |
| ENST00000644972.1:c.438del | ENSP00000496451.1:p.Thr147ArgfsTer22 | |
| ENST00000645077.1:c.*272del | ENSP00000496113.1:n.*272del | |
| ENST00000645172.1:c.*189+2034del | ENSP00000495367.1:n.*189+2034del | |
| ENST00000646190.1:n.1669del | ||
| ENST00000646208.1:c.174del | ENSP00000493723.1:p.Thr59ArgfsTer22 | |
| ENST00000646410.1:c.309del | ENSP00000494205.1:p.Thr104ArgfsTer22 | |
| ENST00000646562.1:c.*272del | ENSP00000496087.1:n.*272del | |
| ENST00000647468.2:c.438del MANE Select | ENSP00000496731.1:p.Thr147ArgfsTer22 | |
| ENST00000648111.1:c.*82del | ENSP00000497275.1:n.*82del | |
| ENST00000367101.5:c.438del | ENSP00000356068.1:p.Thr147ArgfsTer22 | |
| ENST00000367104.7:c.438del | ENSP00000356071.3:p.Thr147ArgfsTer22 | |
| ENST00000606965.5:c.438del | ENSP00000475808.1:p.Thr147ArgfsTer22 | |
| ENST00000607000.1:c.438del | ENSP00000475788.1:p.Thr147ArgfsTer? | |
| ENST00000607071.5:c.*272del | ENSP00000475855.1:n.*272del | |
| ENST00000607742.5:c.*272del | ENSP00000475523.1:n.*272del | |
| NM_032861.3:c.438del | NP_116250.3:p.Thr147ArgfsTer22 | |
| NR_073096.1:n.580del | ||
| XM_006715586.1:c.228del | XP_006715649.1:p.Thr77ArgfsTer22 | |
| XM_011536196.1:c.417del | XP_011534498.1:p.Thr140ArgfsTer22 | |
| XM_011536197.1:c.438del | XP_011534499.1:p.Thr147ArgfsTer22 | |
| XM_011536198.1:c.228del | XP_011534500.1:p.Thr77ArgfsTer22 | |
| XR_942606.1:n.439del | ||
| XM_006715586.3:c.228del | XP_006715649.1:p.Thr77ArgfsTer22 | |
| XM_011536196.3:c.417del | XP_011534498.1:p.Thr140ArgfsTer22 | |
| XM_011536198.3:c.228del | XP_011534500.1:p.Thr77ArgfsTer22 | |
| XM_024446573.1:c.438del | XP_024302341.1:p.Thr147ArgfsTer22 | |
| XR_001743697.2:n.519del | ||
| XR_942606.2:n.570del | ||
| NM_032861.4:c.438del MANE Select | NP_116250.3:p.Thr147ArgfsTer22 | |
| NR_073096.2:n.562del |