Linked Data
dbSNP Id:
rs752624877
ExAC:
2:145147111 CTCT / C
gnomAD v2:
2-145147111-CTCT-C
gnomAD v4:
2-144389544-CTCT-C
COSMIC:
COSM1270815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389550_144389552del , CM000664.2:g.144389550_144389552del | GRCh38 |
| NC_000002.11:g.145147117_145147119del , CM000664.1:g.145147117_145147119del | GRCh37 |
| NC_000002.10:g.144863587_144863589del | NCBI36 |
| NG_016431.1:g.135845_135847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3398_*3400del | ENSP00000508434.1:n.*3398_*3400del | |
| ENST00000440875.6:c.2772_2774del | ENSP00000475553.3:p.Glu925del | |
| ENST00000627532.3:c.3549_3551del MANE Select | ENSP00000487174.1:p.Glu1184del | |
| ENST00000636026.2:c.3437_3439del | ENSP00000490776.1:p.Lys1146del | |
| ENST00000636179.1:n.3518_3520del | ||
| ENST00000636413.1:c.3213_3215del | ENSP00000490508.1:p.Glu1072del | |
| ENST00000636471.1:c.3624_3626del | ENSP00000490317.1:p.Glu1209del | |
| ENST00000636732.2:c.*3266_*3268del | ENSP00000490175.1:n.*3266_*3268del | |
| ENST00000636820.1:n.3649_3651del | ||
| ENST00000637045.1:c.3213_3215del | ENSP00000490141.1:p.Glu1072del | |
| ENST00000637304.1:c.3213_3215del | ENSP00000490872.1:p.Glu1072del | |
| ENST00000638007.1:c.3213_3215del | ENSP00000490723.1:p.Glu1072del | |
| ENST00000638087.1:c.3213_3215del | ENSP00000490673.1:p.Glu1072del | |
| ENST00000638128.1:c.2772_2774del | ENSP00000490934.1:p.Glu925del | |
| ENST00000639389.1:c.151+6865_151+6867del | ENSP00000492572.1:n.151+6865_151+6867del | |
| ENST00000647488.1:c.769_771del | ENSP00000494820.1:n.769_771del | |
| ENST00000675069.1:c.1080_1082del | ENSP00000502467.1:p.Glu361del | |
| ENST00000303660.8:c.3546_3548del | ENSP00000302501.4:p.Glu1183del | |
| ENST00000409487.7:c.3549_3551del | ENSP00000386854.2:p.Glu1184del | |
| ENST00000419938.5:c.656-665_656-663del | ENSP00000394777.2:n.656-665_656-663del | |
| ENST00000539609.7:c.3477_3479del | ENSP00000443792.2:p.Glu1160del | |
| ENST00000558170.6:c.3549_3551del | ENSP00000454157.1:p.Glu1184del | |
| ENST00000627532.2:c.3549_3551del | ENSP00000487174.1:p.Glu1184del | |
| NM_001171653.1:c.3477_3479del | NP_001165124.1:p.Glu1160del | |
| NM_014795.3:c.3549_3551del | NP_055610.1:p.Glu1184del | |
| XM_006712881.2:c.3549_3551del | XP_006712944.1:p.Glu1184del | |
| XM_006712882.2:c.3549_3551del | XP_006712945.1:p.Glu1184del | |
| XM_011512231.1:c.3540_3542del | XP_011510533.1:p.Glu1181del | |
| XM_011512232.1:c.3528_3530del | XP_011510534.1:p.Glu1177del | |
| NM_014795.4:c.3549_3551del MANE Select | NP_055610.1:p.Glu1184del | |
| NM_001171653.2:c.3477_3479del | NP_001165124.1:p.Glu1160del |