WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108277183_108286122dup | CA2580616436 | ATM | c.3285-2308_3994-1478dup c.*2756-2308_*3465-1478dup n.3435-2308_4144-1478dup c.3120-2308_3829-1478dup c.2241-2308_2950-1478dup c.1977-2308_2686-1478dup n.4018-2308_4727-1478dup | |
| 11 | g.108283331_108289728del | CA1139662230 | ATM | c.3746+452_4363del c.*3217+452_*3834del n.3896+452_4513del c.3581+452_4198del c.2702+452_3319del c.2438+452_3055del n.4479+452_5096del | ClinVar |
| 11 | g.108284353_108284472del | CA645579304 | ATM | c.3873_3992del (p.Val1292_Gln1331del) c.*3344_*3463del (n.*3344_*3463del) n.220_339del n.4023_4142del c.3708_3827del (p.Val1237_Gln1276del) c.2829_2948del (p.Val944_Gln983del) c.2565_2684del (p.Val856_Gln895del) n.4606_4725del | COSMIC |
| 11 | g.108284357_108284473dup | CA915944404 | ATM | c.3877_3993dup (p.Gln1331_Ile1332insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) c.*3348_*3464dup (n.*3348_*3464dup) n.224_340dup n.4027_4143dup c.3712_3828dup (p.Gln1276_Ile1277insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) c.2833_2949dup (p.Gln983_Ile984insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) c.2569_2685dup (p.Gln895_Ile896insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) n.4610_4726dup | ClinVar dbSNP |
| 11 | g.108284358_108287600dup | CA916079969 | ATM | c.3878_3994dup c.*3349_*3465dup n.4028_4144dup c.3713_3829dup c.2834_2950dup c.2570_2686dup n.4611_4727dup | |
| 11 | g.108284376C>A | CA382525550 | ATM | c.3896C>A (p.Ala1299Asp) c.*3367C>A (n.*3367C>A) n.243C>A n.4046C>A c.3731C>A (p.Ala1244Asp) c.2852C>A (p.Ala951Asp) c.2588C>A (p.Ala863Asp) n.4629C>A | dbSNP |
| 11 | g.108284376C= | CA1998792056 | ATM | c.3896C= (p.Ala1299=) c.*3367C= (n.*3367C=) n.243C= n.4046C= c.3731C= (p.Ala1244=) c.2852C= (p.Ala951=) c.2588C= (p.Ala863=) n.4629C= | |
| 11 | g.108284376C>G | CA382525564 | ATM | c.3896C>G (p.Ala1299Gly) c.*3367C>G (n.*3367C>G) n.243C>G n.4046C>G c.3731C>G (p.Ala1244Gly) c.2852C>G (p.Ala951Gly) c.2588C>G (p.Ala863Gly) n.4629C>G | dbSNP |
| 11 | g.108284376C>T | CA196094 | ATM | c.3896C>T (p.Ala1299Val) c.*3367C>T (n.*3367C>T) n.243C>T n.4046C>T c.3731C>T (p.Ala1244Val) c.2852C>T (p.Ala951Val) c.2588C>T (p.Ala863Val) n.4629C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284377C>A | CA476745097 | ATM | c.3897C>A (p.Ala1299=) c.*3368C>A (n.*3368C>A) n.244C>A n.4047C>A c.3732C>A (p.Ala1244=) c.2853C>A (p.Ala951=) c.2589C>A (p.Ala863=) n.4630C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284377C= | CA1998792057 | ATM | c.3897C= (p.Ala1299=) c.*3368C= (n.*3368C=) n.244C= n.4047C= c.3732C= (p.Ala1244=) c.2853C= (p.Ala951=) c.2589C= (p.Ala863=) n.4630C= | |
| 11 | g.108284377C>G | CA6265361 | ATM | c.3897C>G (p.Ala1299=) c.*3368C>G (n.*3368C>G) n.244C>G n.4047C>G c.3732C>G (p.Ala1244=) c.2853C>G (p.Ala951=) c.2589C>G (p.Ala863=) n.4630C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108284377C>T | CA476745098 | ATM | c.3897C>T (p.Ala1299=) c.*3368C>T (n.*3368C>T) n.244C>T n.4047C>T c.3732C>T (p.Ala1244=) c.2853C>T (p.Ala951=) c.2589C>T (p.Ala863=) n.4630C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284378T>A | CA382525579 | ATM | c.3898T>A (p.Tyr1300Asn) c.*3369T>A (n.*3369T>A) n.245T>A n.4048T>A c.3733T>A (p.Tyr1245Asn) c.2854T>A (p.Tyr952Asn) c.2590T>A (p.Tyr864Asn) n.4631T>A | ClinVar dbSNP |
| 11 | g.108284378T>C | CA382525581 | ATM | c.3898T>C (p.Tyr1300His) c.*3369T>C (n.*3369T>C) n.245T>C n.4048T>C c.3733T>C (p.Tyr1245His) c.2854T>C (p.Tyr952His) c.2590T>C (p.Tyr864His) n.4631T>C | ClinVar dbSNP |
| 11 | g.108284378T>G | CA382525582 | ATM | c.3898T>G (p.Tyr1300Asp) c.*3369T>G (n.*3369T>G) n.245T>G n.4048T>G c.3733T>G (p.Tyr1245Asp) c.2854T>G (p.Tyr952Asp) c.2590T>G (p.Tyr864Asp) n.4631T>G | |
| 11 | g.108284378T= | CA1998792066 | ATM | c.3898T= (p.Tyr1300=) c.*3369T= (n.*3369T=) n.245T= n.4048T= c.3733T= (p.Tyr1245=) c.2854T= (p.Tyr952=) c.2590T= (p.Tyr864=) n.4631T= | |
| 11 | g.108284379A= | CA1998792070 | ATM | c.3899A= (p.Tyr1300=) c.*3370A= (n.*3370A=) n.246A= n.4049A= c.3734A= (p.Tyr1245=) c.2855A= (p.Tyr952=) c.2591A= (p.Tyr864=) n.4632A= | |
| 11 | g.108284379A>C | CA382525588 | ATM | c.3899A>C (p.Tyr1300Ser) c.*3370A>C (n.*3370A>C) n.246A>C n.4049A>C c.3734A>C (p.Tyr1245Ser) c.2855A>C (p.Tyr952Ser) c.2591A>C (p.Tyr864Ser) n.4632A>C | |
| 11 | g.108284379A>G | CA298232 | ATM | c.3899A>G (p.Tyr1300Cys) c.*3370A>G (n.*3370A>G) n.246A>G n.4049A>G c.3734A>G (p.Tyr1245Cys) c.2855A>G (p.Tyr952Cys) c.2591A>G (p.Tyr864Cys) n.4632A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108284379A>T | CA382525590 | ATM | c.3899A>T (p.Tyr1300Phe) c.*3370A>T (n.*3370A>T) n.246A>T n.4049A>T c.3734A>T (p.Tyr1245Phe) c.2855A>T (p.Tyr952Phe) c.2591A>T (p.Tyr864Phe) n.4632A>T | ClinVar dbSNP |
| 11 | g.108284380T>A | CA382525593 | ATM | c.3900T>A (p.Tyr1300Ter) c.*3371T>A (n.*3371T>A) n.247T>A n.4050T>A c.3735T>A (p.Tyr1245Ter) c.2856T>A (p.Tyr952Ter) c.2592T>A (p.Tyr864Ter) n.4633T>A | dbSNP |
| 11 | g.108284380T>C | CA476745100 | ATM | c.3900T>C (p.Tyr1300=) c.*3371T>C (n.*3371T>C) n.247T>C n.4050T>C c.3735T>C (p.Tyr1245=) c.2856T>C (p.Tyr952=) c.2592T>C (p.Tyr864=) n.4633T>C | |
| 11 | g.108284380T>G | CA382525607 | ATM | c.3900T>G (p.Tyr1300Ter) c.*3371T>G (n.*3371T>G) n.247T>G n.4050T>G c.3735T>G (p.Tyr1245Ter) c.2856T>G (p.Tyr952Ter) c.2592T>G (p.Tyr864Ter) n.4633T>G | ClinVar |
| 11 | g.108284381G>A | CA382525625 | ATM | c.3901G>A (p.Glu1301Lys) c.*3372G>A (n.*3372G>A) n.248G>A n.4051G>A c.3736G>A (p.Glu1246Lys) c.2857G>A (p.Glu953Lys) c.2593G>A (p.Glu865Lys) n.4634G>A | ClinVar dbSNP |
| 11 | g.108284381G>C | CA382525617 | ATM | c.3901G>C (p.Glu1301Gln) c.*3372G>C (n.*3372G>C) n.248G>C n.4051G>C c.3736G>C (p.Glu1246Gln) c.2857G>C (p.Glu953Gln) c.2593G>C (p.Glu865Gln) n.4634G>C | dbSNP |
| 11 | g.108284381G>T | CA382525612 | ATM | c.3901G>T (p.Glu1301Ter) c.*3372G>T (n.*3372G>T) n.248G>T n.4051G>T c.3736G>T (p.Glu1246Ter) c.2857G>T (p.Glu953Ter) c.2593G>T (p.Glu865Ter) n.4634G>T | ClinVar COSMIC |
| 11 | g.108284382_108284385del | CA2725192399 | ATM | c.3902_3905del (p.Glu1301ValfsTer?) c.*3373_*3376del (n.*3373_*3376del) n.249_252del n.4052_4055del c.3737_3740del (p.Glu1246ValfsTer?) c.2858_2861del (p.Glu953ValfsTer?) c.2594_2597del (p.Glu865ValfsTer?) n.4635_4638del | dbSNP |
| 11 | g.108284382A= | CA1998792075 | ATM | c.3902A= (p.Glu1301=) c.*3373A= (n.*3373A=) n.249A= n.4052A= c.3737A= (p.Glu1246=) c.2858A= (p.Glu953=) c.2594A= (p.Glu865=) n.4635A= | |
| 11 | g.108284382A>C | CA382525630 | ATM | c.3902A>C (p.Glu1301Ala) c.*3373A>C (n.*3373A>C) n.249A>C n.4052A>C c.3737A>C (p.Glu1246Ala) c.2858A>C (p.Glu953Ala) c.2594A>C (p.Glu865Ala) n.4635A>C | |
| 11 | g.108284382A>G | CA6265362 | ATM | c.3902A>G (p.Glu1301Gly) c.*3373A>G (n.*3373A>G) n.249A>G n.4052A>G c.3737A>G (p.Glu1246Gly) c.2858A>G (p.Glu953Gly) c.2594A>G (p.Glu865Gly) n.4635A>G | dbSNP ExAC gnomAD v2 |
| 11 | g.108284382A>T | CA382525644 | ATM | c.3902A>T (p.Glu1301Val) c.*3373A>T (n.*3373A>T) n.249A>T n.4052A>T c.3737A>T (p.Glu1246Val) c.2858A>T (p.Glu953Val) c.2594A>T (p.Glu865Val) n.4635A>T | dbSNP |
| 11 | g.108284383G>A | CA476745102 | ATM | c.3903G>A (p.Glu1301=) c.*3374G>A (n.*3374G>A) n.250G>A n.4053G>A c.3738G>A (p.Glu1246=) c.2859G>A (p.Glu953=) c.2595G>A (p.Glu865=) n.4636G>A | dbSNP |
| 11 | g.108284383G>C | CA382525651 | ATM | c.3903G>C (p.Glu1301Asp) c.*3374G>C (n.*3374G>C) n.250G>C n.4053G>C c.3738G>C (p.Glu1246Asp) c.2859G>C (p.Glu953Asp) c.2595G>C (p.Glu865Asp) n.4636G>C | ClinVar dbSNP |
| 11 | g.108284383G= | CA1998792081 | ATM | c.3903G= (p.Glu1301=) c.*3374G= (n.*3374G=) n.250G= n.4053G= c.3738G= (p.Glu1246=) c.2859G= (p.Glu953=) c.2595G= (p.Glu865=) n.4636G= | |
| 11 | g.108284383G>T | CA382525657 | ATM | c.3903G>T (p.Glu1301Asp) c.*3374G>T (n.*3374G>T) n.250G>T n.4053G>T c.3738G>T (p.Glu1246Asp) c.2859G>T (p.Glu953Asp) c.2595G>T (p.Glu865Asp) n.4636G>T | dbSNP |
| 11 | g.108284384G>A | CA382525675 | ATM | c.3904G>A (p.Gly1302Ser) c.*3375G>A (n.*3375G>A) n.251G>A n.4054G>A c.3739G>A (p.Gly1247Ser) c.2860G>A (p.Gly954Ser) c.2596G>A (p.Gly866Ser) n.4637G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284384G>C | CA382525670 | ATM | c.3904G>C (p.Gly1302Arg) c.*3375G>C (n.*3375G>C) n.251G>C n.4054G>C c.3739G>C (p.Gly1247Arg) c.2860G>C (p.Gly954Arg) c.2596G>C (p.Gly866Arg) n.4637G>C | dbSNP |
| 11 | g.108284384G>T | CA382525665 | ATM | c.3904G>T (p.Gly1302Cys) c.*3375G>T (n.*3375G>T) n.251G>T n.4054G>T c.3739G>T (p.Gly1247Cys) c.2860G>T (p.Gly954Cys) c.2596G>T (p.Gly866Cys) n.4637G>T | ClinVar dbSNP |
| 11 | g.108284385_108284391del | CA2695215277 | ATM | c.3905_3911del (p.Gly1302GlufsTer?) c.*3376_*3382del (n.*3376_*3382del) n.252_258del n.4055_4061del c.3740_3746del (p.Gly1247GlufsTer?) c.2861_2867del (p.Gly954GlufsTer?) c.2597_2603del (p.Gly866GlufsTer?) n.4638_4644del | |
| 11 | g.108284385G>A | CA382525679 | ATM | c.3905G>A (p.Gly1302Asp) c.*3376G>A (n.*3376G>A) n.252G>A n.4055G>A c.3740G>A (p.Gly1247Asp) c.2861G>A (p.Gly954Asp) c.2597G>A (p.Gly866Asp) n.4638G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284385G>C | CA382525684 | ATM | c.3905G>C (p.Gly1302Ala) c.*3376G>C (n.*3376G>C) n.252G>C n.4055G>C c.3740G>C (p.Gly1247Ala) c.2861G>C (p.Gly954Ala) c.2597G>C (p.Gly866Ala) n.4638G>C | dbSNP |
| 11 | g.108284385G= | CA1998792084 | ATM | c.3905G= (p.Gly1302=) c.*3376G= (n.*3376G=) n.252G= n.4055G= c.3740G= (p.Gly1247=) c.2861G= (p.Gly954=) c.2597G= (p.Gly866=) n.4638G= | |
| 11 | g.108284385G>T | CA6265363 | ATM | c.3905G>T (p.Gly1302Val) c.*3376G>T (n.*3376G>T) n.252G>T n.4055G>T c.3740G>T (p.Gly1247Val) c.2861G>T (p.Gly954Val) c.2597G>T (p.Gly866Val) n.4638G>T | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.108284386T>A | CA476745109 | ATM | c.3906T>A (p.Gly1302=) c.*3377T>A (n.*3377T>A) n.253T>A n.4056T>A c.3741T>A (p.Gly1247=) c.2862T>A (p.Gly954=) c.2598T>A (p.Gly866=) n.4639T>A | dbSNP |
| 11 | g.108284386T>C | CA476745106 | ATM | c.3906T>C (p.Gly1302=) c.*3377T>C (n.*3377T>C) n.253T>C n.4056T>C c.3741T>C (p.Gly1247=) c.2862T>C (p.Gly954=) c.2598T>C (p.Gly866=) n.4639T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.108284386T>G | CA476745105 | ATM | c.3906T>G (p.Gly1302=) c.*3377T>G (n.*3377T>G) n.253T>G n.4056T>G c.3741T>G (p.Gly1247=) c.2862T>G (p.Gly954=) c.2598T>G (p.Gly866=) n.4639T>G | dbSNP |
| 11 | g.108284386T= | CA1998792088 | ATM | c.3906T= (p.Gly1302=) c.*3377T= (n.*3377T=) n.253T= n.4056T= c.3741T= (p.Gly1247=) c.2862T= (p.Gly954=) c.2598T= (p.Gly866=) n.4639T= | |
| 11 | g.108284387A= | CA1998792093 | ATM | c.3907A= (p.Thr1303=) c.*3378A= (n.*3378A=) n.254A= n.4057A= c.3742A= (p.Thr1248=) c.2863A= (p.Thr955=) c.2599A= (p.Thr867=) n.4640A= | |
| 11 | g.108284387A>C | CA382525689 | ATM | c.3907A>C (p.Thr1303Pro) c.*3378A>C (n.*3378A>C) n.254A>C n.4057A>C c.3742A>C (p.Thr1248Pro) c.2863A>C (p.Thr955Pro) c.2599A>C (p.Thr867Pro) n.4640A>C |