Linked Data
ClinVar Variation Id:
199051
dbSNP Id:
rs565270893
ExAC:
20:25288687 TAAAC / T
gnomAD v2:
20-25288687-TAAAC-T
gnomAD v3:
20-25308051-TAAAC-T
gnomAD v4:
20-25308051-TAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25308057_25308060del , CM000682.2:g.25308057_25308060del | GRCh38 |
| NC_000020.10:g.25288693_25288696del , CM000682.1:g.25288693_25288696del | GRCh37 |
| NC_000020.9:g.25236693_25236696del | NCBI36 |
| NG_028119.1:g.87928_87931del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.788-10_788-7del MANE Select | ENSP00000341408.5:n.788-10_788-7del | |
| ENST00000376542.8:c.788-10_788-7del | ENSP00000365725.3:n.788-10_788-7del | |
| ENST00000465694.2:c.242-10_242-7del | ENSP00000459278.2:n.242-10_242-7del | |
| ENST00000671784.1:c.242-10_242-7del | ENSP00000500451.1:n.242-10_242-7del | |
| ENST00000671858.1:c.242-10_242-7del | ENSP00000500550.1:n.242-10_242-7del | |
| ENST00000672001.1:n.299-10_299-7del | ||
| ENST00000672114.1:c.242-10_242-7del | ENSP00000499945.1:n.242-10_242-7del | |
| ENST00000672258.1:c.242-10_242-7del | ENSP00000499868.1:n.242-10_242-7del | |
| ENST00000672331.1:c.242-10_242-7del | ENSP00000500286.1:n.242-10_242-7del | |
| ENST00000672358.1:c.242-10_242-7del | ENSP00000500062.1:n.242-10_242-7del | |
| ENST00000672406.1:c.*127-10_*127-7del | ENSP00000500208.1:n.*127-10_*127-7del | |
| ENST00000672566.1:c.317-10_317-7del | ENSP00000500106.1:n.317-10_317-7del | |
| ENST00000672596.1:c.242-10_242-7del | ENSP00000500290.1:n.242-10_242-7del | |
| ENST00000672871.1:c.242-10_242-7del | ENSP00000499949.1:n.242-10_242-7del | |
| ENST00000673094.1:c.242-10_242-7del | ENSP00000500257.1:n.242-10_242-7del | |
| ENST00000673121.1:c.344-10_344-7del | ENSP00000499839.1:n.344-10_344-7del | |
| ENST00000673227.1:c.242-10_242-7del | ENSP00000500514.1:n.242-10_242-7del | |
| ENST00000673524.1:c.350-10_350-7del | ||
| ENST00000339157.9:c.788-10_788-7del | ENSP00000341408.5:n.788-10_788-7del | |
| ENST00000376542.7:c.788-10_788-7del | ENSP00000365725.3:n.788-10_788-7del | |
| ENST00000481556.1:n.442-10_442-7del | ||
| ENST00000491682.5:c.317-10_317-7del | ENSP00000459495.1:n.317-10_317-7del | |
| ENST00000576316.5:c.92-10_92-7del | ENSP00000459121.1:n.92-10_92-7del | |
| NM_001042472.2:c.788-10_788-7del | NP_001035937.1:n.788-10_788-7del | |
| NM_015600.4:c.788-10_788-7del | NP_056415.1:n.788-10_788-7del | |
| XM_005260698.1:c.788-10_788-7del | XP_005260755.1:n.788-10_788-7del | |
| XM_005260699.3:c.788-10_788-7del | XP_005260756.1:n.788-10_788-7del | |
| XM_005260700.1:c.317-10_317-7del | XP_005260757.1:n.317-10_317-7del | |
| XM_011529214.1:c.788-10_788-7del | XP_011527516.1:n.788-10_788-7del | |
| XM_011529215.1:c.317-10_317-7del | XP_011527517.1:n.317-10_317-7del | |
| XM_011529216.1:c.317-10_317-7del | XP_011527518.1:n.317-10_317-7del | |
| XM_011529217.1:c.131-10_131-7del | XP_011527519.1:n.131-10_131-7del | |
| XM_011529218.1:c.131-10_131-7del | XP_011527520.1:n.131-10_131-7del | |
| XM_011529214.2:c.788-10_788-7del | XP_011527516.1:n.788-10_788-7del | |
| XM_017027796.1:c.317-10_317-7del | XP_016883285.1:n.317-10_317-7del | |
| XR_002958465.1:n.798-10_798-7del | ||
| XR_002958466.1:n.918-10_918-7del | ||
| XR_002958467.1:n.477-10_477-7del | ||
| NM_001042472.3:c.788-10_788-7del MANE Select | NP_001035937.1:n.788-10_788-7del | |
| NM_015600.5:c.788-10_788-7del | NP_056415.1:n.788-10_788-7del |