Linked Data
dbSNP Id:
rs778800502
gnomAD v2:
11-66282979-AGCTCACAG-A
gnomAD v3:
11-66515508-AGCTCACAG-A
gnomAD v4:
11-66515508-AGCTCACAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515513_66515520del , CM000673.2:g.66515513_66515520del | GRCh38 |
| NC_000011.9:g.66282984_66282991del , CM000673.1:g.66282984_66282991del | GRCh37 |
| NC_000011.8:g.66039560_66039567del | NCBI36 |
| NG_009093.1:g.9866_9873del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.433-27_433-20del MANE Select | ENSP00000317469.7:n.433-27_433-20del | |
| ENST00000318312.11:c.433-27_433-20del | ENSP00000317469.7:n.433-27_433-20del | |
| ENST00000393994.4:c.433-27_433-20del | ENSP00000377563.2:n.433-27_433-20del | |
| ENST00000419755.3:c.544-27_544-20del | ENSP00000398526.3:n.544-27_544-20del | |
| ENST00000455748.6:c.432+835_432+842del | ENSP00000405764.2:n.432+835_432+842del | |
| ENST00000524458.5:c.*140-180_*140-173del | ENSP00000436195.1:n.*140-180_*140-173del | |
| ENST00000524705.2:c.154-27_154-20del | ENSP00000436927.1:n.154-27_154-20del | |
| ENST00000524907.5:n.423-27_423-20del | ||
| ENST00000525809.5:c.160-27_160-20del | ENSP00000431187.1:n.160-27_160-20del | |
| ENST00000526035.5:c.*140-27_*140-20del | ENSP00000434197.1:n.*140-27_*140-20del | |
| ENST00000526760.5:c.*140-27_*140-20del | ENSP00000432140.1:n.*140-27_*140-20del | |
| ENST00000527251.5:c.*140-27_*140-20del | ENSP00000434360.1:n.*140-27_*140-20del | |
| ENST00000529766.5:n.440-27_440-20del | ||
| ENST00000529953.5:n.85-27_85-20del | ||
| ENST00000529955.5:n.451-180_451-173del | ||
| ENST00000532908.5:c.*140-180_*140-173del | ENSP00000431866.1:n.*140-180_*140-173del | |
| ENST00000533430.5:n.211-27_211-20del | ||
| ENST00000533557.5:c.*140-180_*140-173del | ENSP00000434619.1:n.*140-180_*140-173del | |
| ENST00000533644.5:c.433-180_433-173del | ENSP00000436073.1:n.433-180_433-173del | |
| ENST00000534730.5:n.445-27_445-20del | ||
| ENST00000630659.2:c.*140-27_*140-20del | ENSP00000486455.1:n.*140-27_*140-20del | |
| NM_024649.4:c.433-27_433-20del | NP_078925.3:n.433-27_433-20del | |
| NM_024649.5:c.433-27_433-20del MANE Select | NP_078925.3:n.433-27_433-20del |