ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406921_17406924delinsGA , CM000673.2:g.17406921_17406924delinsGA | GRCh38 |
| NC_000011.9:g.17428468_17428471delinsGA , CM000673.1:g.17428468_17428471delinsGA | GRCh37 |
| NC_000011.8:g.17385044_17385047delinsGA | NCBI36 |
| NG_008867.1:g.74979_74982delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2695_2698delinsTC | ||
| ENST00000529967.6:n.1465_1468delinsTC | ||
| ENST00000532220.2:n.858_861delinsTC | ||
| ENST00000642611.2:n.3195_3198delinsTC | ||
| ENST00000645004.2:n.625_628delinsTC | ||
| ENST00000682051.1:n.3142_3145delinsTC | ||
| ENST00000682110.1:n.3195_3198delinsTC | ||
| ENST00000682140.1:c.3123_3126delinsTC | ENSP00000507829.1:p.Leu1042HisfsTer? | |
| ENST00000682185.1:n.4431_4434delinsTC | ||
| ENST00000682204.1:c.*1264_*1267delinsTC | ENSP00000507094.1:n.*1264_*1267delinsTC | |
| ENST00000682215.1:n.3192_3195delinsTC | ||
| ENST00000682288.1:c.*1557_*1560delinsTC | ENSP00000507506.1:n.*1557_*1560delinsTC | |
| ENST00000682442.1:n.3316_3319delinsTC | ||
| ENST00000682528.1:n.3272_3275delinsTC | ||
| ENST00000682673.1:n.3139_3142delinsTC | ||
| ENST00000682805.1:n.3192_3195delinsTC | ||
| ENST00000682965.1:c.3123_3126delinsTC | ENSP00000508229.1:p.Leu1042HisfsTer? | |
| ENST00000683093.1:n.3294_3297delinsTC | ||
| ENST00000683136.1:c.3123_3126delinsTC | ENSP00000507768.1:p.Leu1042HisfsTer? | |
| ENST00000683153.1:n.3351_3354delinsTC | ||
| ENST00000683365.1:n.3297_3300delinsTC | ||
| ENST00000683377.1:n.3195_3198delinsTC | ||
| ENST00000683456.1:c.*263_*266delinsTC | ENSP00000508318.1:n.*263_*266delinsTC | |
| ENST00000683522.1:n.3195_3198delinsTC | ||
| ENST00000683562.1:c.*1295_*1298delinsTC | ENSP00000508265.1:n.*1295_*1298delinsTC | |
| ENST00000683693.1:n.3272_3275delinsTC | ||
| ENST00000683725.1:c.3126_3129delinsTC | ENSP00000507496.1:p.Leu1043HisfsTer? | |
| ENST00000684010.1:n.3190_3193delinsTC | ||
| ENST00000684157.1:n.3195_3198delinsTC | ||
| ENST00000684253.1:n.3098_3101delinsTC | ||
| ENST00000684288.1:c.*1298_*1301delinsTC | ENSP00000507143.1:n.*1298_*1301delinsTC | |
| ENST00000684313.1:n.2627_2630delinsTC | ||
| ENST00000684332.1:n.3268_3271delinsTC | ||
| ENST00000684371.1:n.3301_3304delinsTC | ||
| ENST00000684404.1:n.3238_3241delinsTC | ||
| ENST00000684442.1:n.3195_3198delinsTC | ||
| ENST00000684555.1:c.*1338_*1341delinsTC | ENSP00000507705.1:n.*1338_*1341delinsTC | |
| ENST00000684571.1:c.2967_2970delinsTC | ENSP00000506935.1:p.Leu990HisfsTer? | |
| ENST00000684593.1:c.*2831_*2834delinsTC | ENSP00000507005.1:n.*2831_*2834delinsTC | |
| ENST00000684711.1:c.*1522_*1525delinsTC | ENSP00000506841.1:n.*1522_*1525delinsTC | |
| ENST00000302539.9:c.3129_3132delinsTC | ENSP00000303960.4:p.Leu1044HisfsTer? | |
| ENST00000389817.8:c.3126_3129delinsTC MANE Select | ENSP00000374467.4:p.Leu1043HisfsTer? | |
| ENST00000642271.1:c.3123_3126delinsTC | ENSP00000493749.1:p.Leu1042HisfsTer? | |
| ENST00000642579.1:c.1210_1213delinsTC | ||
| ENST00000642611.1:n.3080_3083delinsTC | ||
| ENST00000642902.1:c.2908_2911delinsTC | ||
| ENST00000643260.1:c.3126_3129delinsTC | ENSP00000494450.1:p.Leu1043HisfsTer? | |
| ENST00000643562.1:c.*1102_*1105delinsTC | ENSP00000496124.1:n.*1102_*1105delinsTC | |
| ENST00000643925.1:c.1250_1253delinsTC | ||
| ENST00000644447.1:c.1482_1485delinsTC | ENSP00000496282.1:p.Leu495HisfsTer? | |
| ENST00000644484.1:c.*1381_*1384delinsTC | ENSP00000493558.1:n.*1381_*1384delinsTC | |
| ENST00000644542.1:c.*2831_*2834delinsTC | ENSP00000495532.1:n.*2831_*2834delinsTC | |
| ENST00000644675.1:c.*1298_*1301delinsTC | ENSP00000494567.1:n.*1298_*1301delinsTC | |
| ENST00000644757.1:c.*1411_*1414delinsTC | ENSP00000495085.1:n.*1411_*1414delinsTC | |
| ENST00000644772.1:c.3192_3195delinsTC | ENSP00000494321.1:p.Leu1065HisfsTer? | |
| ENST00000645004.1:n.265_268delinsTC | ||
| ENST00000645076.1:c.2325_2328delinsTC | ||
| ENST00000645417.1:c.292_295delinsTC | ||
| ENST00000645744.1:c.*1390_*1393delinsTC | ENSP00000494564.1:n.*1390_*1393delinsTC | |
| ENST00000645760.1:c.3401_3404delinsTC | ||
| ENST00000645884.1:c.*263_*266delinsTC | ENSP00000495516.1:n.*263_*266delinsTC | |
| ENST00000646003.1:c.*1082_*1085delinsTC | ENSP00000495259.1:n.*1082_*1085delinsTC | |
| ENST00000646207.1:c.*1593_*1596delinsTC | ENSP00000495025.1:n.*1593_*1596delinsTC | |
| ENST00000646276.1:c.*1399_*1402delinsTC | ENSP00000496070.1:n.*1399_*1402delinsTC | |
| ENST00000646592.1:c.2432_2435delinsTC | ||
| ENST00000646902.1:c.3123_3126delinsTC | ENSP00000494101.1:p.Leu1042HisfsTer? | |
| ENST00000646993.1:c.*1522_*1525delinsTC | ENSP00000493720.1:n.*1522_*1525delinsTC | |
| ENST00000647013.1:c.3132_3135delinsTC | ENSP00000496741.1:n.3132_3135delinsTC | |
| ENST00000647015.1:c.2877_2880delinsTC | ENSP00000495389.1:p.Leu960HisfsTer? | |
| ENST00000647086.1:c.*2856_*2859delinsTC | ENSP00000493677.1:n.*2856_*2859delinsTC | |
| ENST00000647158.1:c.*1267_*1270delinsTC | ENSP00000495744.1:n.*1267_*1270delinsTC | |
| ENST00000302539.8:c.3129_3132delinsTC | ENSP00000303960.4:p.Leu1044HisfsTer? | |
| ENST00000389817.7:c.3126_3129delinsTC | ENSP00000374467.3:p.Leu1043HisfsTer? | |
| ENST00000524561.1:n.258_261delinsTC | ||
| ENST00000526921.5:n.810_813delinsTC | ||
| ENST00000527905.5:c.*2_*5delinsTC | ENSP00000431653.1:n.*2_*5delinsTC | |
| ENST00000529967.5:n.795_798delinsTC | ||
| NM_000352.4:c.3126_3129delinsTC | NP_000343.2:p.Leu1043HisfsTer? | |
| NM_001287174.1:c.3129_3132delinsTC | NP_001274103.1:p.Leu1044HisfsTer? | |
| XM_011520331.1:c.3126_3129delinsTC | XP_011518633.1:p.Leu1043HisfsTer? | |
| XM_011520332.1:c.3129_3132delinsTC | XP_011518634.1:p.Leu1044HisfsTer? | |
| XM_011520333.1:c.1626_1629delinsTC | XP_011518635.1:p.Leu543HisfsTer? | |
| XR_930890.1:n.3192_3195delinsTC | ||
| XR_930891.1:n.3192_3195delinsTC | ||
| XR_930892.1:n.3092_3095delinsTC | ||
| XR_930893.1:n.3089_3092delinsTC | ||
| NM_001351295.1:c.3192_3195delinsTC | NP_001338224.1:p.Leu1065HisfsTer? | |
| NM_001351296.1:c.3126_3129delinsTC | NP_001338225.1:p.Leu1043HisfsTer? | |
| NM_001351297.1:c.3123_3126delinsTC | NP_001338226.1:p.Leu1042HisfsTer? | |
| NR_147094.1:n.3275_3278delinsTC | ||
| XM_017018197.2:c.3195_3198delinsTC | XP_016873686.1:p.Leu1066HisfsTer? | |
| XM_017018199.1:c.3192_3195delinsTC | XP_016873688.1:p.Leu1065HisfsTer? | |
| XM_017018201.2:c.3195_3198delinsTC | XP_016873690.1:p.Leu1066HisfsTer? | |
| XM_017018202.1:c.1692_1695delinsTC | XP_016873691.1:p.Leu565HisfsTer? | |
| XM_017018204.1:c.1083_1086delinsTC | XP_016873693.1:p.Leu362HisfsTer? | |
| XM_024448668.1:c.1494_1497delinsTC | XP_024304436.1:p.Leu499HisfsTer? | |
| XR_001747945.2:n.3267_3270delinsTC | ||
| XR_001747946.2:n.3198_3201delinsTC | ||
| XR_002957189.1:n.3347_3350delinsTC | ||
| NM_000352.6:c.3126_3129delinsTC MANE Select | NP_000343.2:p.Leu1043HisfsTer? | |
| NM_001287174.2:c.3129_3132delinsTC | NP_001274103.1:p.Leu1044HisfsTer? | |
| NM_001351295.2:c.3192_3195delinsTC | NP_001338224.1:p.Leu1065HisfsTer? | |
| NM_001351296.2:c.3126_3129delinsTC | NP_001338225.1:p.Leu1043HisfsTer? | |
| NM_001351297.2:c.3123_3126delinsTC | NP_001338226.1:p.Leu1042HisfsTer? | |
| NR_147094.2:n.3275_3278delinsTC | ||
| NM_001287174.3:c.3129_3132delinsTC | NP_001274103.1:p.Leu1044HisfsTer? |