UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.108282509_108282737delinsATCAAGAAAAGTTGAATGAATGTT | CA2580083229 | ATM | c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT c.*3048-201_*3075delinsATCAAGAAAAGTTGAATGAATGTT n.3727-201_3754delinsATCAAGAAAAGTTGAATGAATGTT c.3412-201_3439delinsATCAAGAAAAGTTGAATGAATGTT c.2533-201_2560delinsATCAAGAAAAGTTGAATGAATGTT c.2269-201_2296delinsATCAAGAAAAGTTGAATGAATGTT n.4310-201_4337delinsATCAAGAAAAGTTGAATGAATGTT | ClinVar |
| 11 | g.108282720_108282721del | CA2739270907 | ATM | c.3587_3588del (p.Lys1196SerfsTer3) c.*3058_*3059del (n.*3058_*3059del) n.3737_3738del c.3422_3423del (p.Lys1141SerfsTer3) c.2543_2544del (p.Lys848SerfsTer3) c.2279_2280del (p.Lys760SerfsTer3) n.4320_4321del | ClinVar |
| 11 | g.108282720A>C | CA382522527 | ATM | c.3587A>C (p.Lys1196Thr) c.*3058A>C (n.*3058A>C) n.3737A>C c.3422A>C (p.Lys1141Thr) c.2543A>C (p.Lys848Thr) c.2279A>C (p.Lys760Thr) n.4320A>C | |
| 11 | g.108282720A>G | CA382522529 | ATM | c.3587A>G (p.Lys1196Arg) c.*3058A>G (n.*3058A>G) n.3737A>G c.3422A>G (p.Lys1141Arg) c.2543A>G (p.Lys848Arg) c.2279A>G (p.Lys760Arg) n.4320A>G | |
| 11 | g.108282720A>T | CA382522532 | ATM | c.3587A>T (p.Lys1196Ile) c.*3058A>T (n.*3058A>T) n.3737A>T c.3422A>T (p.Lys1141Ile) c.2543A>T (p.Lys848Ile) c.2279A>T (p.Lys760Ile) n.4320A>T | ClinVar |
| 11 | g.108282721A= | CA1998790239 | ATM | c.3588A= (p.Lys1196=) c.*3059A= (n.*3059A=) n.3738A= c.3423A= (p.Lys1141=) c.2544A= (p.Lys848=) c.2280A= (p.Lys760=) n.4321A= | |
| 11 | g.108282721A>C | CA382522534 | ATM | c.3588A>C (p.Lys1196Asn) c.*3059A>C (n.*3059A>C) n.3738A>C c.3423A>C (p.Lys1141Asn) c.2544A>C (p.Lys848Asn) c.2280A>C (p.Lys760Asn) n.4321A>C | |
| 11 | g.108282721A>G | CA188209 | ATM | c.3588A>G (p.Lys1196=) c.*3059A>G (n.*3059A>G) n.3738A>G c.3423A>G (p.Lys1141=) c.2544A>G (p.Lys848=) c.2280A>G (p.Lys760=) n.4321A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108282721A>T | CA382522540 | ATM | c.3588A>T (p.Lys1196Asn) c.*3059A>T (n.*3059A>T) n.3738A>T c.3423A>T (p.Lys1141Asn) c.2544A>T (p.Lys848Asn) c.2280A>T (p.Lys760Asn) n.4321A>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108282722G>A | CA382522544 | ATM | c.3589G>A (p.Val1197Ile) c.*3060G>A (n.*3060G>A) n.3739G>A c.3424G>A (p.Val1142Ile) c.2545G>A (p.Val849Ile) c.2281G>A (p.Val761Ile) n.4322G>A | |
| 11 | g.108282722G>C | CA10584338 | ATM | c.3589G>C (p.Val1197Leu) c.*3060G>C (n.*3060G>C) n.3739G>C c.3424G>C (p.Val1142Leu) c.2545G>C (p.Val849Leu) c.2281G>C (p.Val761Leu) n.4322G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108282722G= | CA1998790241 | ATM | c.3589G= (p.Val1197=) c.*3060G= (n.*3060G=) n.3739G= c.3424G= (p.Val1142=) c.2545G= (p.Val849=) c.2281G= (p.Val761=) n.4322G= | |
| 11 | g.108282722G>T | CA382522550 | ATM | c.3589G>T (p.Val1197Phe) c.*3060G>T (n.*3060G>T) n.3739G>T c.3424G>T (p.Val1142Phe) c.2545G>T (p.Val849Phe) c.2281G>T (p.Val761Phe) n.4322G>T | dbSNP |
| 11 | g.108282723T>A | CA382522555 | ATM | c.3590T>A (p.Val1197Asp) c.*3061T>A (n.*3061T>A) n.3740T>A c.3425T>A (p.Val1142Asp) c.2546T>A (p.Val849Asp) c.2282T>A (p.Val761Asp) n.4323T>A | dbSNP |
| 11 | g.108282723T>C | CA382522563 | ATM | c.3590T>C (p.Val1197Ala) c.*3061T>C (n.*3061T>C) n.3740T>C c.3425T>C (p.Val1142Ala) c.2546T>C (p.Val849Ala) c.2282T>C (p.Val761Ala) n.4323T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282723T>G | CA382522560 | ATM | c.3590T>G (p.Val1197Gly) c.*3061T>G (n.*3061T>G) n.3740T>G c.3425T>G (p.Val1142Gly) c.2546T>G (p.Val849Gly) c.2282T>G (p.Val761Gly) n.4323T>G | dbSNP |
| 11 | g.108282723T= | CA1998790243 | ATM | c.3590T= (p.Val1197=) c.*3061T= (n.*3061T=) n.3740T= c.3425T= (p.Val1142=) c.2546T= (p.Val849=) c.2282T= (p.Val761=) n.4323T= | |
| 11 | g.108282724T>A | CA476673207 | ATM | c.3591T>A (p.Val1197=) c.*3062T>A (n.*3062T>A) n.3741T>A c.3426T>A (p.Val1142=) c.2547T>A (p.Val849=) c.2283T>A (p.Val761=) n.4324T>A | |
| 11 | g.108282724T>C | CA476673209 | ATM | c.3591T>C (p.Val1197=) c.*3062T>C (n.*3062T>C) n.3741T>C c.3426T>C (p.Val1142=) c.2547T>C (p.Val849=) c.2283T>C (p.Val761=) n.4324T>C | |
| 11 | g.108282724T>G | CA476673211 | ATM | c.3591T>G (p.Val1197=) c.*3062T>G (n.*3062T>G) n.3741T>G c.3426T>G (p.Val1142=) c.2547T>G (p.Val849=) c.2283T>G (p.Val761=) n.4324T>G | |
| 11 | g.108282725T>A | CA382522564 | ATM | c.3592T>A (p.Ser1198Thr) c.*3063T>A (n.*3063T>A) n.3742T>A c.3427T>A (p.Ser1143Thr) c.2548T>A (p.Ser850Thr) c.2284T>A (p.Ser762Thr) n.4325T>A | |
| 11 | g.108282725T>C | CA382522566 | ATM | c.3592T>C (p.Ser1198Pro) c.*3063T>C (n.*3063T>C) n.3742T>C c.3427T>C (p.Ser1143Pro) c.2548T>C (p.Ser850Pro) c.2284T>C (p.Ser762Pro) n.4325T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282725T>G | CA382522565 | ATM | c.3592T>G (p.Ser1198Ala) c.*3063T>G (n.*3063T>G) n.3742T>G c.3427T>G (p.Ser1143Ala) c.2548T>G (p.Ser850Ala) c.2284T>G (p.Ser762Ala) n.4325T>G | ClinVar |
| 11 | g.108282725T= | CA1998790245 | ATM | c.3592T= (p.Ser1198=) c.*3063T= (n.*3063T=) n.3742T= c.3427T= (p.Ser1143=) c.2548T= (p.Ser850=) c.2284T= (p.Ser762=) n.4325T= | |
| 11 | g.108282726C>A | CA382522569 | ATM | c.3593C>A (p.Ser1198Tyr) c.*3064C>A (n.*3064C>A) n.3743C>A c.3428C>A (p.Ser1143Tyr) c.2549C>A (p.Ser850Tyr) c.2285C>A (p.Ser762Tyr) n.4326C>A | |
| 11 | g.108282726C>G | CA382522579 | ATM | c.3593C>G (p.Ser1198Cys) c.*3064C>G (n.*3064C>G) n.3743C>G c.3428C>G (p.Ser1143Cys) c.2549C>G (p.Ser850Cys) c.2285C>G (p.Ser762Cys) n.4326C>G | ClinVar dbSNP |
| 11 | g.108282726C>T | CA382522570 | ATM | c.3593C>T (p.Ser1198Phe) c.*3064C>T (n.*3064C>T) n.3743C>T c.3428C>T (p.Ser1143Phe) c.2549C>T (p.Ser850Phe) c.2285C>T (p.Ser762Phe) n.4326C>T | ClinVar dbSNP |
| 11 | g.108282727T>A | CA476673213 | ATM | c.3594T>A (p.Ser1198=) c.*3065T>A (n.*3065T>A) n.3744T>A c.3429T>A (p.Ser1143=) c.2550T>A (p.Ser850=) c.2286T>A (p.Ser762=) n.4327T>A | dbSNP |
| 11 | g.108282727T>C | CA476673214 | ATM | c.3594T>C (p.Ser1198=) c.*3065T>C (n.*3065T>C) n.3744T>C c.3429T>C (p.Ser1143=) c.2550T>C (p.Ser850=) c.2286T>C (p.Ser762=) n.4327T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282727T>G | CA476673215 | ATM | c.3594T>G (p.Ser1198=) c.*3065T>G (n.*3065T>G) n.3744T>G c.3429T>G (p.Ser1143=) c.2550T>G (p.Ser850=) c.2286T>G (p.Ser762=) n.4327T>G | |
| 11 | g.108282727T= | CA1998790247 | ATM | c.3594T= (p.Ser1198=) c.*3065T= (n.*3065T=) n.3744T= c.3429T= (p.Ser1143=) c.2550T= (p.Ser850=) c.2286T= (p.Ser762=) n.4327T= | |
| 11 | g.108282728G>A | CA382522584 | ATM | c.3595G>A (p.Glu1199Lys) c.*3066G>A (n.*3066G>A) n.3745G>A c.3430G>A (p.Glu1144Lys) c.2551G>A (p.Glu851Lys) c.2287G>A (p.Glu763Lys) n.4328G>A | dbSNP |
| 11 | g.108282728G>C | CA382522600 | ATM | c.3595G>C (p.Glu1199Gln) c.*3066G>C (n.*3066G>C) n.3745G>C c.3430G>C (p.Glu1144Gln) c.2551G>C (p.Glu851Gln) c.2287G>C (p.Glu763Gln) n.4328G>C | dbSNP |
| 11 | g.108282728G>T | CA382522597 | ATM | c.3595G>T (p.Glu1199Ter) c.*3066G>T (n.*3066G>T) n.3745G>T c.3430G>T (p.Glu1144Ter) c.2551G>T (p.Glu851Ter) c.2287G>T (p.Glu763Ter) n.4328G>T | |
| 11 | g.108282729A= | CA1998790249 | ATM | c.3596A= (p.Glu1199=) c.*3067A= (n.*3067A=) n.3746A= c.3431A= (p.Glu1144=) c.2552A= (p.Glu851=) c.2288A= (p.Glu763=) n.4329A= | |
| 11 | g.108282729A>C | CA382522604 | ATM | c.3596A>C (p.Glu1199Ala) c.*3067A>C (n.*3067A>C) n.3746A>C c.3431A>C (p.Glu1144Ala) c.2552A>C (p.Glu851Ala) c.2288A>C (p.Glu763Ala) n.4329A>C | ClinVar |
| 11 | g.108282729A>G | CA10579116 | ATM | c.3596A>G (p.Glu1199Gly) c.*3067A>G (n.*3067A>G) n.3746A>G c.3431A>G (p.Glu1144Gly) c.2552A>G (p.Glu851Gly) c.2288A>G (p.Glu763Gly) n.4329A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282729A>T | CA382522608 | ATM | c.3596A>T (p.Glu1199Val) c.*3067A>T (n.*3067A>T) n.3746A>T c.3431A>T (p.Glu1144Val) c.2552A>T (p.Glu851Val) c.2288A>T (p.Glu763Val) n.4329A>T | dbSNP |
| 11 | g.108282730A>C | CA382522616 | ATM | c.3597A>C (p.Glu1199Asp) c.*3068A>C (n.*3068A>C) n.3747A>C c.3432A>C (p.Glu1144Asp) c.2553A>C (p.Glu851Asp) c.2289A>C (p.Glu763Asp) n.4330A>C | |
| 11 | g.108282730A>G | CA476673217 | ATM | c.3597A>G (p.Glu1199=) c.*3068A>G (n.*3068A>G) n.3747A>G c.3432A>G (p.Glu1144=) c.2553A>G (p.Glu851=) c.2289A>G (p.Glu763=) n.4330A>G | ClinVar dbSNP |
| 11 | g.108282730A>T | CA382522644 | ATM | c.3597A>T (p.Glu1199Asp) c.*3068A>T (n.*3068A>T) n.3747A>T c.3432A>T (p.Glu1144Asp) c.2553A>T (p.Glu851Asp) c.2289A>T (p.Glu763Asp) n.4330A>T | |
| 11 | g.108282731A= | CA1998790251 | ATM | c.3598A= (p.Thr1200=) c.*3069A= (n.*3069A=) n.3748A= c.3433A= (p.Thr1145=) c.2554A= (p.Thr852=) c.2290A= (p.Thr764=) n.4331A= | |
| 11 | g.108282731A>C | CA382522645 | ATM | c.3598A>C (p.Thr1200Pro) c.*3069A>C (n.*3069A>C) n.3748A>C c.3433A>C (p.Thr1145Pro) c.2554A>C (p.Thr852Pro) c.2290A>C (p.Thr764Pro) n.4331A>C | |
| 11 | g.108282731A>G | CA6265324 | ATM | c.3598A>G (p.Thr1200Ala) c.*3069A>G (n.*3069A>G) n.3748A>G c.3433A>G (p.Thr1145Ala) c.2554A>G (p.Thr852Ala) c.2290A>G (p.Thr764Ala) n.4331A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108282731A>T | CA382522646 | ATM | c.3598A>T (p.Thr1200Ser) c.*3069A>T (n.*3069A>T) n.3748A>T c.3433A>T (p.Thr1145Ser) c.2554A>T (p.Thr852Ser) c.2290A>T (p.Thr764Ser) n.4331A>T | dbSNP |
| 11 | g.108282732C>A | CA382522650 | ATM | c.3599C>A (p.Thr1200Asn) c.*3070C>A (n.*3070C>A) n.3749C>A c.3434C>A (p.Thr1145Asn) c.2555C>A (p.Thr852Asn) c.2291C>A (p.Thr764Asn) n.4332C>A | ClinVar |
| 11 | g.108282732C>G | CA382522667 | ATM | c.3599C>G (p.Thr1200Ser) c.*3070C>G (n.*3070C>G) n.3749C>G c.3434C>G (p.Thr1145Ser) c.2555C>G (p.Thr852Ser) c.2291C>G (p.Thr764Ser) n.4332C>G | |
| 11 | g.108282732C>T | CA382522669 | ATM | c.3599C>T (p.Thr1200Ile) c.*3070C>T (n.*3070C>T) n.3749C>T c.3434C>T (p.Thr1145Ile) c.2555C>T (p.Thr852Ile) c.2291C>T (p.Thr764Ile) n.4332C>T | |
| 11 | g.108282732_108282734del | CA912970706 | ATM | c.3599_3601del (p.Thr1200_Phe1201delinsIle) c.*3070_*3072del (n.*3070_*3072del) n.3749_3751del c.3434_3436del (p.Thr1145_Phe1146delinsIle) c.2555_2557del (p.Thr852_Phe853delinsIle) c.2291_2293del (p.Thr764_Phe765delinsIle) n.4332_4334del |