Linked Data
dbSNP Id:
rs779460018
ExAC:
6:157522265 CCTT / C
gnomAD v3:
6-157201131-CCTT-C
gnomAD v4:
6-157201131-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201134_157201136del , CM000668.2:g.157201134_157201136del | GRCh38 |
| NC_000006.11:g.157522268_157522270del , CM000668.1:g.157522268_157522270del | GRCh37 |
| NC_000006.10:g.157563960_157563962del | NCBI36 |
| NG_032093.1:g.428205_428207del | |
| NG_032093.2:g.428205_428207del | |
| NG_066624.1:g.430109_430111del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4750_4752del | ENSP00000055163.8:p.Ser1584del | |
| ENST00000414678.8:c.4819_4821del | ENSP00000412835.3:p.Ser1607del | |
| ENST00000637015.2:c.5038_5040del | ENSP00000489729.2:p.Ser1680del | |
| ENST00000346085.10:c.4789_4791del | ENSP00000344546.5:p.Ser1597del | |
| ENST00000350026.10:c.4501_4503del | ENSP00000055163.7:p.Ser1501del | |
| ENST00000414678.7:c.3067_3069del | ENSP00000412835.2:p.Ser1023del | |
| ENST00000635849.1:c.2230_2232del | ENSP00000490948.1:p.Ser744del | |
| ENST00000635957.1:c.1861_1863del | ENSP00000490385.1:p.Ser621del | |
| ENST00000636227.1:n.3372_3374del | ||
| ENST00000636254.1:n.829_831del | ||
| ENST00000636930.2:c.4909_4911del MANE Select | ENSP00000490491.2:p.Ser1637del | |
| ENST00000636940.1:n.2906_2908del | ||
| ENST00000637015.1:c.2277_2279del | ||
| ENST00000637568.1:c.2191_2193del | ||
| ENST00000637741.1:n.1575_1577del | ||
| ENST00000637810.1:c.2251_2253del | ENSP00000489636.1:p.Ser751del | |
| ENST00000637904.1:c.2410_2412del | ENSP00000490550.1:p.Ser804del | |
| ENST00000647938.1:c.4540_4542del | ENSP00000498155.1:p.Ser1514del | |
| ENST00000346085.9:c.4540_4542del | ENSP00000344546.4:p.Ser1514del | |
| ENST00000350026.9:c.4501_4503del | ENSP00000055163.7:p.Ser1501del | |
| ENST00000414678.6:c.3067_3069del | ENSP00000412835.2:p.Ser1023del | |
| NM_017519.2:c.4501_4503del | NP_059989.2:p.Ser1501del | |
| NM_020732.3:c.4540_4542del | NP_065783.3:p.Ser1514del | |
| XM_005267069.3:c.4660_4662del | XP_005267126.2:p.Ser1554del | |
| XM_011535984.1:c.3739_3741del | XP_011534286.1:p.Ser1247del | |
| XM_011535985.1:c.3559_3561del | XP_011534287.1:p.Ser1187del | |
| XM_011535986.1:c.3319_3321del | XP_011534288.1:p.Ser1107del | |
| XM_011535987.1:c.2938_2940del | XP_011534289.1:p.Ser980del | |
| XM_011535988.1:c.1801_1803del | XP_011534290.1:p.Ser601del | |
| NM_001346813.1:c.4660_4662del | NP_001333742.1:p.Ser1554del | |
| NM_001363725.1:c.2410_2412del | NP_001350654.1:p.Ser804del | |
| XM_011535984.2:c.4870_4872del | XP_011534286.2:p.Ser1624del | |
| XM_011535988.3:c.1801_1803del | XP_011534290.1:p.Ser601del | |
| XM_017011103.2:c.4771_4773del | XP_016866592.1:p.Ser1591del | |
| XM_017011104.1:c.4741_4743del | XP_016866593.1:p.Ser1581del | |
| XM_017011105.2:c.4711_4713del | XP_016866594.1:p.Ser1571del | |
| XM_017011106.2:c.4582_4584del | XP_016866595.1:p.Ser1528del | |
| XM_017011107.2:c.4561_4563del | XP_016866596.1:p.Ser1521del | |
| XR_002956289.1:n.4856_4858del | ||
| NM_001363725.2:c.2410_2412del | NP_001350654.1:p.Ser804del | |
| NM_001371656.1:c.4789_4791del | NP_001358585.1:p.Ser1597del | |
| NM_001374820.1:c.4789_4791del | NP_001361749.1:p.Ser1597del | |
| NM_001374828.1:c.4909_4911del MANE Select | NP_001361757.1:p.Ser1637del | |
| NM_017519.3:c.4750_4752del | NP_059989.3:p.Ser1584del |