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.108284347_108284364delinsGATTCTTGTAAATATTCT | CA1998791942 | ATM | c.3867_3884delinsGATTCTTGTAAATATTCT (p.Lys1289=) c.*3338_*3355delinsGATTCTTGTAAATATTCT (n.*3338_*3355delinsGATTCTTGTAAATATTCT) n.214_231delinsGATTCTTGTAAATATTCT n.4017_4034delinsGATTCTTGTAAATATTCT c.3702_3719delinsGATTCTTGTAAATATTCT (p.Lys1234=) c.2823_2840delinsGATTCTTGTAAATATTCT (p.Lys941=) c.2559_2576delinsGATTCTTGTAAATATTCT (p.Lys853=) n.4600_4617delinsGATTCTTGTAAATATTCT | |
| 11 | g.108284348_108284364del | CA916079968 | ATM | c.3868_3884del (p.Ile1290SerfsTer6) c.*3339_*3355del (n.*3339_*3355del) n.215_231del n.4018_4034del c.3703_3719del (p.Ile1235SerfsTer6) c.2824_2840del (p.Ile942SerfsTer6) c.2560_2576del (p.Ile854SerfsTer6) n.4601_4617del | ClinVar dbSNP |
| 11 | g.108284353T>A | CA476745068 | ATM | c.3873T>A (p.Leu1291=) c.*3344T>A (n.*3344T>A) n.220T>A n.4023T>A c.3708T>A (p.Leu1236=) c.2829T>A (p.Leu943=) c.2565T>A (p.Leu855=) n.4606T>A | |
| 11 | g.108284353T>C | CA476745067 | ATM | c.3873T>C (p.Leu1291=) c.*3344T>C (n.*3344T>C) n.220T>C n.4023T>C c.3708T>C (p.Leu1236=) c.2829T>C (p.Leu943=) c.2565T>C (p.Leu855=) n.4606T>C | |
| 11 | g.108284353T>G | CA476745066 | ATM | c.3873T>G (p.Leu1291=) c.*3344T>G (n.*3344T>G) n.220T>G n.4023T>G c.3708T>G (p.Leu1236=) c.2829T>G (p.Leu943=) c.2565T>G (p.Leu855=) n.4606T>G | ClinVar dbSNP |
| 11 | g.108284353T= | CA1998791957 | ATM | c.3873T= (p.Leu1291=) c.*3344T= (n.*3344T=) n.220T= n.4023T= c.3708T= (p.Leu1236=) c.2829T= (p.Leu943=) c.2565T= (p.Leu855=) n.4606T= | |
| 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.108284354G>A | CA382525390 | ATM | c.3874G>A (p.Val1292Ile) c.*3345G>A (n.*3345G>A) n.221G>A n.4024G>A c.3709G>A (p.Val1237Ile) c.2830G>A (p.Val944Ile) c.2566G>A (p.Val856Ile) n.4607G>A | dbSNP |
| 11 | g.108284354G>C | CA10582813 | ATM | c.3874G>C (p.Val1292Leu) c.*3345G>C (n.*3345G>C) n.221G>C n.4024G>C c.3709G>C (p.Val1237Leu) c.2830G>C (p.Val944Leu) c.2566G>C (p.Val856Leu) n.4607G>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284354G= | CA1998791961 | ATM | c.3874G= (p.Val1292=) c.*3345G= (n.*3345G=) n.221G= n.4024G= c.3709G= (p.Val1237=) c.2830G= (p.Val944=) c.2566G= (p.Val856=) n.4607G= | |
| 11 | g.108284354G>T | CA382525394 | ATM | c.3874G>T (p.Val1292Leu) c.*3345G>T (n.*3345G>T) n.221G>T n.4024G>T c.3709G>T (p.Val1237Leu) c.2830G>T (p.Val944Leu) c.2566G>T (p.Val856Leu) n.4607G>T | |
| 11 | g.108284355T>A | CA382525399 | ATM | c.3875T>A (p.Val1292Glu) c.*3346T>A (n.*3346T>A) n.222T>A n.4025T>A c.3710T>A (p.Val1237Glu) c.2831T>A (p.Val944Glu) c.2567T>A (p.Val856Glu) n.4608T>A | ClinVar |
| 11 | g.108284355T>C | CA382525401 | ATM | c.3875T>C (p.Val1292Ala) c.*3346T>C (n.*3346T>C) n.222T>C n.4025T>C c.3710T>C (p.Val1237Ala) c.2831T>C (p.Val944Ala) c.2567T>C (p.Val856Ala) n.4608T>C | ClinVar dbSNP |
| 11 | g.108284355T>G | CA382525396 | ATM | c.3875T>G (p.Val1292Gly) c.*3346T>G (n.*3346T>G) n.222T>G n.4025T>G c.3710T>G (p.Val1237Gly) c.2831T>G (p.Val944Gly) c.2567T>G (p.Val856Gly) n.4608T>G | |
| 11 | g.108284355T= | CA1998791971 | ATM | c.3875T= (p.Val1292=) c.*3346T= (n.*3346T=) n.222T= n.4025T= c.3710T= (p.Val1237=) c.2831T= (p.Val944=) c.2567T= (p.Val856=) n.4608T= | |
| 11 | g.108284356A= | CA1998791974 | ATM | c.3876A= (p.Val1292=) c.*3347A= (n.*3347A=) n.223A= n.4026A= c.3711A= (p.Val1237=) c.2832A= (p.Val944=) c.2568A= (p.Val856=) n.4609A= | |
| 11 | g.108284356A>C | CA476745069 | ATM | c.3876A>C (p.Val1292=) c.*3347A>C (n.*3347A>C) n.223A>C n.4026A>C c.3711A>C (p.Val1237=) c.2832A>C (p.Val944=) c.2568A>C (p.Val856=) n.4609A>C | |
| 11 | g.108284356A>G | CA476745071 | ATM | c.3876A>G (p.Val1292=) c.*3347A>G (n.*3347A>G) n.223A>G n.4026A>G c.3711A>G (p.Val1237=) c.2832A>G (p.Val944=) c.2568A>G (p.Val856=) n.4609A>G | |
| 11 | g.108284356A>T | CA476745070 | ATM | c.3876A>T (p.Val1292=) c.*3347A>T (n.*3347A>T) n.223A>T n.4026A>T c.3711A>T (p.Val1237=) c.2832A>T (p.Val944=) c.2568A>T (p.Val856=) n.4609A>T | ClinVar dbSNP |
| 11 | g.108284357A>C | CA382525402 | ATM | c.3877A>C (p.Asn1293His) c.*3348A>C (n.*3348A>C) n.224A>C n.4027A>C c.3712A>C (p.Asn1238His) c.2833A>C (p.Asn945His) c.2569A>C (p.Asn857His) n.4610A>C | ClinVar dbSNP |
| 11 | g.108284357A>G | CA382525403 | ATM | c.3877A>G (p.Asn1293Asp) c.*3348A>G (n.*3348A>G) n.224A>G n.4027A>G c.3712A>G (p.Asn1238Asp) c.2833A>G (p.Asn945Asp) c.2569A>G (p.Asn857Asp) n.4610A>G | |
| 11 | g.108284357A>T | CA382525407 | ATM | c.3877A>T (p.Asn1293Tyr) c.*3348A>T (n.*3348A>T) n.224A>T n.4027A>T c.3712A>T (p.Asn1238Tyr) c.2833A>T (p.Asn945Tyr) c.2569A>T (p.Asn857Tyr) n.4610A>T | dbSNP |
| 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.108284358A= | CA1998791982 | ATM | c.3878A= (p.Asn1293=) c.*3349A= (n.*3349A=) n.225A= n.4028A= c.3713A= (p.Asn1238=) c.2834A= (p.Asn945=) c.2570A= (p.Asn857=) n.4611A= | |
| 11 | g.108284358A>C | CA382525408 | ATM | c.3878A>C (p.Asn1293Thr) c.*3349A>C (n.*3349A>C) n.225A>C n.4028A>C c.3713A>C (p.Asn1238Thr) c.2834A>C (p.Asn945Thr) c.2570A>C (p.Asn857Thr) n.4611A>C | |
| 11 | g.108284358A>G | CA382525409 | ATM | c.3878A>G (p.Asn1293Ser) c.*3349A>G (n.*3349A>G) n.225A>G n.4028A>G c.3713A>G (p.Asn1238Ser) c.2834A>G (p.Asn945Ser) c.2570A>G (p.Asn857Ser) n.4611A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.108284358A>T | CA382525411 | ATM | c.3878A>T (p.Asn1293Ile) c.*3349A>T (n.*3349A>T) n.225A>T n.4028A>T c.3713A>T (p.Asn1238Ile) c.2834A>T (p.Asn945Ile) c.2570A>T (p.Asn857Ile) n.4611A>T | dbSNP |
| 11 | g.108284359T>A | CA382525414 | ATM | c.3879T>A (p.Asn1293Lys) c.*3350T>A (n.*3350T>A) n.226T>A n.4029T>A c.3714T>A (p.Asn1238Lys) c.2835T>A (p.Asn945Lys) c.2571T>A (p.Asn857Lys) n.4612T>A | dbSNP |
| 11 | g.108284359T>C | CA476745074 | ATM | c.3879T>C (p.Asn1293=) c.*3350T>C (n.*3350T>C) n.226T>C n.4029T>C c.3714T>C (p.Asn1238=) c.2835T>C (p.Asn945=) c.2571T>C (p.Asn857=) n.4612T>C | dbSNP |
| 11 | g.108284359T>G | CA382525418 | ATM | c.3879T>G (p.Asn1293Lys) c.*3350T>G (n.*3350T>G) n.226T>G n.4029T>G c.3714T>G (p.Asn1238Lys) c.2835T>G (p.Asn945Lys) c.2571T>G (p.Asn857Lys) n.4612T>G | |
| 11 | g.108284359T= | CA1998791986 | ATM | c.3879T= (p.Asn1293=) c.*3350T= (n.*3350T=) n.226T= n.4029T= c.3714T= (p.Asn1238=) c.2835T= (p.Asn945=) c.2571T= (p.Asn857=) n.4612T= | |
| 11 | g.108284360A= | CA1998792001 | ATM | c.3880A= (p.Ile1294=) c.*3351A= (n.*3351A=) n.227A= n.4030A= c.3715A= (p.Ile1239=) c.2836A= (p.Ile946=) c.2572A= (p.Ile858=) n.4613A= | |
| 11 | g.108284360A>C | CA382525419 | ATM | c.3880A>C (p.Ile1294Leu) c.*3351A>C (n.*3351A>C) n.227A>C n.4030A>C c.3715A>C (p.Ile1239Leu) c.2836A>C (p.Ile946Leu) c.2572A>C (p.Ile858Leu) n.4613A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284360A>G | CA382525422 | ATM | c.3880A>G (p.Ile1294Val) c.*3351A>G (n.*3351A>G) n.227A>G n.4030A>G c.3715A>G (p.Ile1239Val) c.2836A>G (p.Ile946Val) c.2572A>G (p.Ile858Val) n.4613A>G | ClinVar dbSNP |
| 11 | g.108284360A>T | CA382525430 | ATM | c.3880A>T (p.Ile1294Phe) c.*3351A>T (n.*3351A>T) n.227A>T n.4030A>T c.3715A>T (p.Ile1239Phe) c.2836A>T (p.Ile946Phe) c.2572A>T (p.Ile858Phe) n.4613A>T | ClinVar dbSNP |
| 11 | g.108284360dup | CA16041405 | ATM | c.3880dup (p.Ile1294AsnfsTer8) c.*3351dup (n.*3351dup) n.227dup n.4030dup c.3715dup (p.Ile1239AsnfsTer8) c.2836dup (p.Ile946AsnfsTer8) c.2572dup (p.Ile858AsnfsTer8) n.4613dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284361T>A | CA382525436 | ATM | c.3881T>A (p.Ile1294Asn) c.*3352T>A (n.*3352T>A) n.228T>A n.4031T>A c.3716T>A (p.Ile1239Asn) c.2837T>A (p.Ile946Asn) c.2573T>A (p.Ile858Asn) n.4614T>A | |
| 11 | g.108284361T>C | CA382525441 | ATM | c.3881T>C (p.Ile1294Thr) c.*3352T>C (n.*3352T>C) n.228T>C n.4031T>C c.3716T>C (p.Ile1239Thr) c.2837T>C (p.Ile946Thr) c.2573T>C (p.Ile858Thr) n.4614T>C | dbSNP |
| 11 | g.108284361T>G | CA382525445 | ATM | c.3881T>G (p.Ile1294Ser) c.*3352T>G (n.*3352T>G) n.228T>G n.4031T>G c.3716T>G (p.Ile1239Ser) c.2837T>G (p.Ile946Ser) c.2573T>G (p.Ile858Ser) n.4614T>G | |
| 11 | g.108284362del | CA645579305 | ATM | c.3882del (p.Leu1295PhefsTer?) c.*3353del (n.*3353del) n.229del n.4032del c.3717del (p.Leu1240PhefsTer?) c.2838del (p.Leu947PhefsTer?) c.2574del (p.Leu859PhefsTer?) n.4615del | COSMIC COSMIC |
| 11 | g.108284364_108284366del | CA645579306 | ATM | c.3884_3886del (p.Leu1295del) c.*3355_*3357del (n.*3355_*3357del) n.231_233del n.4034_4036del c.3719_3721del (p.Leu1240del) c.2840_2842del (p.Leu947del) c.2576_2578del (p.Leu859del) n.4617_4619del | COSMIC |
| 11 | g.108284362T>A | CA476745077 | ATM | c.3882T>A (p.Ile1294=) c.*3353T>A (n.*3353T>A) n.229T>A n.4032T>A c.3717T>A (p.Ile1239=) c.2838T>A (p.Ile946=) c.2574T>A (p.Ile858=) n.4615T>A | |
| 11 | g.108284362T>C | CA476745078 | ATM | c.3882T>C (p.Ile1294=) c.*3353T>C (n.*3353T>C) n.229T>C n.4032T>C c.3717T>C (p.Ile1239=) c.2838T>C (p.Ile946=) c.2574T>C (p.Ile858=) n.4615T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284362T>G | CA382525447 | ATM | c.3882T>G (p.Ile1294Met) c.*3353T>G (n.*3353T>G) n.229T>G n.4032T>G c.3717T>G (p.Ile1239Met) c.2838T>G (p.Ile946Met) c.2574T>G (p.Ile858Met) n.4615T>G | |
| 11 | g.108284362T= | CA1998792005 | ATM | c.3882T= (p.Ile1294=) c.*3353T= (n.*3353T=) n.229T= n.4032T= c.3717T= (p.Ile1239=) c.2838T= (p.Ile946=) c.2574T= (p.Ile858=) n.4615T= | |
| 11 | g.108284363C>A | CA382525448 | ATM | c.3883C>A (p.Leu1295Ile) c.*3354C>A (n.*3354C>A) n.230C>A n.4033C>A c.3718C>A (p.Leu1240Ile) c.2839C>A (p.Leu947Ile) c.2575C>A (p.Leu859Ile) n.4616C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284363C= | CA1998792008 | ATM | c.3883C= (p.Leu1295=) c.*3354C= (n.*3354C=) n.230C= n.4033C= c.3718C= (p.Leu1240=) c.2839C= (p.Leu947=) c.2575C= (p.Leu859=) n.4616C= |