Linked Data
ClinVar Variation Id:
1039606
ClinVar RCV Id:
RCV001343112
dbSNP Id:
rs763124571
ExAC:
16:78133750 AACC / A
gnomAD v2:
16-78133750-AACC-A
gnomAD v3:
16-78099853-AACC-A
gnomAD v4:
16-78099853-AACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78099858_78099860del , CM000678.2:g.78099858_78099860del | GRCh38 |
| NC_000016.9:g.78133755_78133757del , CM000678.1:g.78133755_78133757del | GRCh37 |
| NC_000016.8:g.76691256_76691258del | NCBI36 |
| NG_011698.1:g.5205_5207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.80_82del | ENSP00000485925.2:p.Thr27del | |
| ENST00000682609.1:n.407_409del | ||
| ENST00000683286.1:n.407_409del | ||
| ENST00000683929.1:c.80_82del | ENSP00000507689.1:p.Thr27del | |
| ENST00000684070.1:n.409_411del | ||
| ENST00000684381.1:n.407_409del | ||
| ENST00000684452.1:n.407_409del | ||
| ENST00000684632.1:n.459_461del | ||
| ENST00000566780.6:c.80_82del MANE Select | ENSP00000457230.1:p.Thr27del | |
| ENST00000355860.7:c.80_82del | ENSP00000348119.3:p.Thr27del | |
| ENST00000402655.6:c.80_82del | ENSP00000384238.2:p.Thr27del | |
| ENST00000406884.6:c.80_82del | ENSP00000384495.2:p.Thr27del | |
| ENST00000408984.7:c.80_82del | ENSP00000386161.3:p.Thr27del | |
| ENST00000539474.6:c.80_82del | ENSP00000445210.2:p.Thr27del | |
| ENST00000561846.5:n.124_126del | ||
| ENST00000562214.5:n.203_205del | ||
| ENST00000563358.5:n.73_75del | ||
| ENST00000565562.5:n.125_127del | ||
| ENST00000566662.5:c.80_82del | ENSP00000454331.1:p.Thr27del | |
| ENST00000566780.5:c.80_82del | ENSP00000457230.1:p.Thr27del | |
| ENST00000569332.5:c.80_82del | ENSP00000454788.1:p.Thr27del | |
| ENST00000569818.1:c.80_82del | ENSP00000454485.1:p.Thr27del | |
| ENST00000627394.2:c.80_82del | ENSP00000485925.1:p.Thr27del | |
| NM_001291997.1:c.-195_-193del | NP_001278926.1:n.-195_-193del | |
| NM_016373.3:c.80_82del | NP_057457.1:p.Thr27del | |
| NM_130791.3:c.80_82del | NP_570607.1:p.Thr27del | |
| NR_120435.1:n.446_448del | ||
| NR_120436.1:n.446_448del | ||
| XM_006721195.2:c.80_82del | XP_006721258.1:p.Thr27del | |
| XM_011523100.1:c.80_82del | XP_011521402.1:p.Thr27del | |
| XM_011523101.1:c.80_82del | XP_011521403.1:p.Thr27del | |
| XM_011523102.1:c.80_82del | XP_011521404.1:p.Thr27del | |
| XM_011523103.1:c.80_82del | XP_011521405.1:p.Thr27del | |
| XM_011523104.1:c.80_82del | XP_011521406.1:p.Thr27del | |
| XM_011523105.1:c.80_82del | XP_011521407.1:p.Thr27del | |
| XM_011523101.3:c.80_82del | XP_011521403.1:p.Thr27del | |
| XM_011523103.3:c.80_82del | XP_011521405.1:p.Thr27del | |
| XM_011523104.3:c.80_82del | XP_011521406.1:p.Thr27del | |
| XM_011523105.3:c.80_82del | XP_011521407.1:p.Thr27del | |
| XM_017023278.2:c.80_82del | XP_016878767.1:p.Thr27del | |
| NM_016373.4:c.80_82del MANE Select | NP_057457.1:p.Thr27del | |
| NM_001291997.2:c.-195_-193del | NP_001278926.1:n.-195_-193del | |
| NM_130791.4:c.80_82del | NP_570607.1:p.Thr27del | |
| NR_120435.2:n.205_207del | ||
| NR_120436.2:n.205_207del | ||
| NM_130791.5:c.80_82del | NP_570607.1:p.Thr27del | |
| NR_120436.3:n.205_207del |