Linked Data
ClinVar Variation Id:
225847
ClinVar RCV Id:
RCV000211064
dbSNP Id:
rs875989789
PubMed:
PMID:26283626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23636025_23636026del , CM000678.2:g.23636025_23636026del | GRCh38 |
| NC_000016.9:g.23647346_23647347del , CM000678.1:g.23647346_23647347del | GRCh37 |
| NC_000016.8:g.23554847_23554848del | NCBI36 |
| NG_007406.1:g.10334_10335del , LRG_308:g.10334_10335del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.528_529del | ENSP00000460666.3:p.Arg177ThrfsTer9 | |
| ENST00000565038.2:c.211+1826_211+1827del | ENSP00000459882.2:n.211+1826_211+1827del | |
| ENST00000566069.6:c.522_523del | ENSP00000459237.2:p.Arg175ThrfsTer9 | |
| ENST00000697377.2:c.528_529del | ENSP00000513286.2:p.Arg177ThrfsTer9 | |
| ENST00000697379.2:c.528_529del | ENSP00000513287.2:p.Arg177ThrfsTer9 | |
| ENST00000561514.2:c.-364_-363del | ENSP00000460666.2:n.-364_-363del | |
| ENST00000697374.1:c.-364_-363del | ENSP00000513284.1:n.-364_-363del | |
| ENST00000697375.1:n.1869_1870del | ||
| ENST00000697376.1:c.-364_-363del | ENSP00000513285.1:n.-364_-363del | |
| ENST00000697377.1:c.-364_-363del | ENSP00000513286.1:n.-364_-363del | |
| ENST00000697378.1:n.1042_1043del | ||
| ENST00000697379.1:c.-364_-363del | ENSP00000513287.1:n.-364_-363del | |
| ENST00000697382.1:c.-364_-363del | ENSP00000513288.1:n.-364_-363del | |
| ENST00000697383.1:c.48+5086_48+5087del | ENSP00000513289.1:n.48+5086_48+5087del | |
| ENST00000697384.1:n.676_677del | ||
| ENST00000261584.9:c.522_523del MANE Select | ENSP00000261584.4:p.Arg175ThrfsTer9 | |
| ENST00000261584.8:c.522_523del | ENSP00000261584.4:p.Arg175ThrfsTer9 | |
| ENST00000565038.1:c.86+1826_86+1827del | ||
| ENST00000568219.5:c.-364_-363del | ENSP00000454703.2:n.-364_-363del | |
| NM_024675.3:c.522_523del , LRG_308t1:c.522_523del | NP_078951.2:p.Arg175ThrfsTer9 | |
| XM_011545946.1:c.528_529del | XP_011544248.1:p.Arg177ThrfsTer9 | |
| XM_011545947.1:c.528_529del | XP_011544249.1:p.Arg177ThrfsTer9 | |
| XM_011545948.1:c.-364_-363del | XP_011544250.1:n.-364_-363del | |
| XR_950851.1:n.1318_1319del | ||
| XM_011545946.2:c.528_529del | XP_011544248.1:p.Arg177ThrfsTer9 | |
| XM_011545947.2:c.528_529del | XP_011544249.1:p.Arg177ThrfsTer9 | |
| XM_011545948.2:c.-364_-363del | XP_011544250.1:n.-364_-363del | |
| XM_017023671.1:c.528_529del | XP_016879160.1:p.Arg177ThrfsTer9 | |
| XM_017023672.2:c.522_523del | XP_016879161.1:p.Arg175ThrfsTer9 | |
| XM_017023673.2:c.522_523del | XP_016879162.1:p.Arg175ThrfsTer9 | |
| NM_024675.4:c.522_523del MANE Select | NP_078951.2:p.Arg175ThrfsTer9 |