Linked Data
dbSNP Id:
rs1396484425
gnomAD v2:
19-1106269-AG-A
gnomAD v3:
19-1106270-AG-A
gnomAD v4:
19-1106270-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106275del , CM000681.2:g.1106275del | GRCh38 |
| NC_000019.9:g.1106274del , CM000681.1:g.1106274del | GRCh37 |
| NC_000019.8:g.1057274del | NCBI36 |
| NG_050621.1:g.7350del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.612+9del | ENSP00000473614.3:n.612+9del | |
| ENST00000593032.6:c.481+9del | ENSP00000465828.4:n.481+9del | |
| ENST00000706713.1:c.495+9del | ENSP00000516510.1:n.495+9del | |
| ENST00000706714.1:c.481+9del | ENSP00000516511.1:n.481+9del | |
| ENST00000706715.1:c.117+9del | ENSP00000516512.1:n.117+9del | |
| ENST00000354171.13:c.501+9del MANE Select | ENSP00000346103.7:n.501+9del | |
| ENST00000589115.6:c.477-125del | ENSP00000466872.3:n.477-125del | |
| ENST00000354171.12:c.501+9del | ENSP00000346103.7:n.501+9del | |
| ENST00000585480.1:c.234+9del | ENSP00000467900.1:n.234+9del | |
| ENST00000587648.5:c.381+9del | ENSP00000468349.1:n.381+9del | |
| ENST00000588919.5:c.420+9del | ENSP00000464989.3:n.420+9del | |
| ENST00000589115.5:c.477-125del | ENSP00000466872.2:n.477-125del | |
| ENST00000592940.2:n.872+9del | ||
| ENST00000593032.5:c.481+9del | ENSP00000465828.3:n.481+9del | |
| ENST00000611653.4:c.420+9del | ENSP00000483655.1:n.420+9del | |
| ENST00000616066.4:c.498+9del | ENSP00000485000.1:n.498+9del | |
| ENST00000622390.4:c.609+9del | ENSP00000477503.1:n.609+9del | |
| NM_001039847.2:c.501+9del | NP_001034936.1:n.501+9del | |
| NM_001039848.2:c.612+9del | NP_001034937.1:n.612+9del | |
| NM_002085.4:c.501+9del | NP_002076.2:n.501+9del | |
| NM_001039848.3:c.612+9del | NP_001034937.1:n.612+9del | |
| NM_001039847.3:c.501+9del | NP_001034936.1:n.501+9del | |
| NM_001039848.4:c.612+9del | NP_001034937.1:n.612+9del | |
| NM_001367832.1:c.420+9del | NP_001354761.1:n.420+9del | |
| NM_002085.5:c.501+9del MANE Select | NP_002076.2:n.501+9del |