Linked Data
dbSNP Id:
rs773050687
gnomAD v2:
20-25288516-AATT-A
gnomAD v3:
20-25307880-AATT-A
gnomAD v4:
20-25307880-AATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25307886_25307888del , CM000682.2:g.25307886_25307888del | GRCh38 |
| NC_000020.10:g.25288522_25288524del , CM000682.1:g.25288522_25288524del | GRCh37 |
| NC_000020.9:g.25236522_25236524del | NCBI36 |
| NG_028119.1:g.88100_88102del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.867+83_867+85del MANE Select | ENSP00000341408.5:n.867+83_867+85del | |
| ENST00000376542.8:c.867+83_867+85del | ENSP00000365725.3:n.867+83_867+85del | |
| ENST00000465694.2:c.321+83_321+85del | ENSP00000459278.2:n.321+83_321+85del | |
| ENST00000671784.1:c.321+83_321+85del | ENSP00000500451.1:n.321+83_321+85del | |
| ENST00000671858.1:c.321+83_321+85del | ENSP00000500550.1:n.321+83_321+85del | |
| ENST00000672001.1:n.378+83_378+85del | ||
| ENST00000672114.1:c.321+83_321+85del | ENSP00000499945.1:n.321+83_321+85del | |
| ENST00000672258.1:c.321+83_321+85del | ENSP00000499868.1:n.321+83_321+85del | |
| ENST00000672331.1:c.321+83_321+85del | ENSP00000500286.1:n.321+83_321+85del | |
| ENST00000672358.1:c.321+83_321+85del | ENSP00000500062.1:n.321+83_321+85del | |
| ENST00000672406.1:c.*206+83_*206+85del | ENSP00000500208.1:n.*206+83_*206+85del | |
| ENST00000672566.1:c.396+83_396+85del | ENSP00000500106.1:n.396+83_396+85del | |
| ENST00000672596.1:c.321+83_321+85del | ENSP00000500290.1:n.321+83_321+85del | |
| ENST00000672871.1:c.321+83_321+85del | ENSP00000499949.1:n.321+83_321+85del | |
| ENST00000673094.1:c.321+83_321+85del | ENSP00000500257.1:n.321+83_321+85del | |
| ENST00000673121.1:c.423+83_423+85del | ENSP00000499839.1:n.423+83_423+85del | |
| ENST00000673227.1:c.321+83_321+85del | ENSP00000500514.1:n.321+83_321+85del | |
| ENST00000673524.1:c.429+83_429+85del | ||
| ENST00000339157.9:c.867+83_867+85del | ENSP00000341408.5:n.867+83_867+85del | |
| ENST00000376542.7:c.867+83_867+85del | ENSP00000365725.3:n.867+83_867+85del | |
| ENST00000481556.1:n.521+83_521+85del | ||
| ENST00000491682.5:c.396+83_396+85del | ENSP00000459495.1:n.396+83_396+85del | |
| ENST00000576316.5:c.171+83_171+85del | ENSP00000459121.1:n.171+83_171+85del | |
| NM_001042472.2:c.867+83_867+85del | NP_001035937.1:n.867+83_867+85del | |
| NM_015600.4:c.867+83_867+85del | NP_056415.1:n.867+83_867+85del | |
| XM_005260698.1:c.867+83_867+85del | XP_005260755.1:n.867+83_867+85del | |
| XM_005260699.3:c.867+83_867+85del | XP_005260756.1:n.867+83_867+85del | |
| XM_005260700.1:c.396+83_396+85del | XP_005260757.1:n.396+83_396+85del | |
| XM_011529214.1:c.867+83_867+85del | XP_011527516.1:n.867+83_867+85del | |
| XM_011529215.1:c.396+83_396+85del | XP_011527517.1:n.396+83_396+85del | |
| XM_011529216.1:c.396+83_396+85del | XP_011527518.1:n.396+83_396+85del | |
| XM_011529217.1:c.210+83_210+85del | XP_011527519.1:n.210+83_210+85del | |
| XM_011529218.1:c.210+83_210+85del | XP_011527520.1:n.210+83_210+85del | |
| XM_011529214.2:c.867+83_867+85del | XP_011527516.1:n.867+83_867+85del | |
| XM_017027796.1:c.396+83_396+85del | XP_016883285.1:n.396+83_396+85del | |
| XR_002958465.1:n.877+83_877+85del | ||
| XR_002958466.1:n.997+83_997+85del | ||
| XR_002958467.1:n.556+83_556+85del | ||
| NM_001042472.3:c.867+83_867+85del MANE Select | NP_001035937.1:n.867+83_867+85del | |
| NM_015600.5:c.867+83_867+85del | NP_056415.1:n.867+83_867+85del |