Linked Data
ClinVar Variation Id:
556347
ClinVar RCV Id:
RCV000672343
dbSNP Id:
rs756355930
ExAC:
11:66617914 AAC / A
gnomAD v2:
11-66617914-AAC-A
gnomAD v3:
11-66850443-AAC-A
gnomAD v4:
11-66850443-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66850446_66850447del , CM000673.2:g.66850446_66850447del | GRCh38 |
| NC_000011.9:g.66617917_66617918del , CM000673.1:g.66617917_66617918del | GRCh37 |
| NC_000011.8:g.66374493_66374494del | NCBI36 |
| NG_008319.1:g.112932_112933del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393958.7:c.2493_2494del | ENSP00000377530.2:p.Phe832Ter | |
| ENST00000393960.7:c.2493_2494del MANE Select | ENSP00000377532.1:p.Phe832Ter | |
| ENST00000525476.2:n.290-380_290-379del | ||
| ENST00000528224.2:c.*502_*503del | ENSP00000498317.1:n.*502_*503del | |
| ENST00000529047.6:c.2493_2494del | ENSP00000435905.2:p.Phe832Ter | |
| ENST00000651036.1:c.2493_2494del | ENSP00000498406.1:p.Phe832Ter | |
| ENST00000651469.1:c.*969_*970del | ENSP00000498712.1:n.*969_*970del | |
| ENST00000651854.1:c.2493_2494del | ENSP00000498994.1:p.Phe832Ter | |
| ENST00000652125.1:c.2493_2494del | ENSP00000498302.1:p.Phe832Ter | |
| ENST00000393955.6:c.2493_2494del | ENSP00000377527.2:p.Phe832Ter | |
| ENST00000393958.6:c.2493_2494del | ENSP00000377530.2:p.Phe832Ter | |
| ENST00000393960.5:c.2493_2494del | ENSP00000377532.1:p.Phe832Ter | |
| NM_000920.3:c.2493_2494del | NP_000911.2:p.Phe832Ter | |
| NM_001040716.1:c.2493_2494del | NP_001035806.1:p.Phe832Ter | |
| NM_022172.2:c.2493_2494del | NP_071504.2:p.Phe832Ter | |
| XM_005274031.3:c.2493_2494del | XP_005274088.1:p.Phe832Ter | |
| XM_005274032.3:c.2493_2494del | XP_005274089.1:p.Phe832Ter | |
| XM_006718577.2:c.2493_2494del | XP_006718640.1:p.Phe832Ter | |
| XM_006718578.2:c.2493_2494del | XP_006718641.1:p.Phe832Ter | |
| XM_006718579.2:c.972_973del | XP_006718642.1:p.Phe325Ter | |
| XM_011545085.1:c.2493_2494del | XP_011543387.1:p.Phe832Ter | |
| XM_011545086.1:c.2493_2494del | XP_011543388.1:p.Phe832Ter | |
| XM_011545087.1:c.1197_1198del | XP_011543389.1:p.Phe400Ter | |
| XM_011545088.1:c.1128_1129del | XP_011543390.1:p.Phe377Ter | |
| XM_005274031.4:c.2493_2494del | XP_005274088.1:p.Phe832Ter | |
| XM_005274032.4:c.2493_2494del | XP_005274089.1:p.Phe832Ter | |
| XM_006718578.3:c.2493_2494del | XP_006718641.1:p.Phe832Ter | |
| XM_006718579.3:c.972_973del | XP_006718642.1:p.Phe325Ter | |
| XM_011545086.2:c.2493_2494del | XP_011543388.1:p.Phe832Ter | |
| XM_011545087.2:c.1197_1198del | XP_011543389.1:p.Phe400Ter | |
| XM_017017868.1:c.2493_2494del | XP_016873357.1:p.Phe832Ter | |
| XM_017017869.1:c.2493_2494del | XP_016873358.1:p.Phe832Ter | |
| XM_017017870.1:c.2493_2494del | XP_016873359.1:p.Phe832Ter | |
| XM_017017871.1:c.2493_2494del | XP_016873360.1:p.Phe832Ter | |
| XM_017017872.2:c.2493_2494del | XP_016873361.1:p.Phe832Ter | |
| NM_000920.4:c.2493_2494del | NP_000911.2:p.Phe832Ter | |
| NM_001040716.2:c.2493_2494del MANE Select | NP_001035806.1:p.Phe832Ter | |
| NM_022172.3:c.2493_2494del | NP_071504.2:p.Phe832Ter |