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.108272564_108272750del | CA2695215253 | ATM | c.3110_3182del c.*2581_*2653del n.3260_3332del c.2945_3017del c.2066_2138del c.1802_1874del n.3843_3915del | |
| 11 | g.108272733T>A | CA382515538 | ATM | c.3165T>A (p.Tyr1055Ter) c.*2636T>A (n.*2636T>A) n.3315T>A c.3000T>A (p.Tyr1000Ter) c.2121T>A (p.Tyr707Ter) c.1857T>A (p.Tyr619Ter) n.3898T>A | dbSNP |
| 11 | g.108272733T>C | CA6265218 | ATM | c.3165T>C (p.Tyr1055=) c.*2636T>C (n.*2636T>C) n.3315T>C c.3000T>C (p.Tyr1000=) c.2121T>C (p.Tyr707=) c.1857T>C (p.Tyr619=) n.3898T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108272733T>G | CA382515541 | ATM | c.3165T>G (p.Tyr1055Ter) c.*2636T>G (n.*2636T>G) n.3315T>G c.3000T>G (p.Tyr1000Ter) c.2121T>G (p.Tyr707Ter) c.1857T>G (p.Tyr619Ter) n.3898T>G | |
| 11 | g.108272733T= | CA1998777096 | ATM | c.3165T= (p.Tyr1055=) c.*2636T= (n.*2636T=) n.3315T= c.3000T= (p.Tyr1000=) c.2121T= (p.Tyr707=) c.1857T= (p.Tyr619=) n.3898T= | |
| 11 | g.108272734T>A | CA382515546 | ATM | c.3166T>A (p.Ser1056Thr) c.*2637T>A (n.*2637T>A) n.3316T>A c.3001T>A (p.Ser1001Thr) c.2122T>A (p.Ser708Thr) c.1858T>A (p.Ser620Thr) n.3899T>A | dbSNP |
| 11 | g.108272734T>C | CA382515548 | ATM | c.3166T>C (p.Ser1056Pro) c.*2637T>C (n.*2637T>C) n.3316T>C c.3001T>C (p.Ser1001Pro) c.2122T>C (p.Ser708Pro) c.1858T>C (p.Ser620Pro) n.3899T>C | |
| 11 | g.108272734T>G | CA382515544 | ATM | c.3166T>G (p.Ser1056Ala) c.*2637T>G (n.*2637T>G) n.3316T>G c.3001T>G (p.Ser1001Ala) c.2122T>G (p.Ser708Ala) c.1858T>G (p.Ser620Ala) n.3899T>G | |
| 11 | g.108272735C>A | CA382515552 | ATM | c.3167C>A (p.Ser1056Ter) c.*2638C>A (n.*2638C>A) n.3317C>A c.3002C>A (p.Ser1001Ter) c.2123C>A (p.Ser708Ter) c.1859C>A (p.Ser620Ter) n.3900C>A | ClinVar dbSNP |
| 11 | g.108272735C= | CA1998777102 | ATM | c.3167C= (p.Ser1056=) c.*2638C= (n.*2638C=) n.3317C= c.3002C= (p.Ser1001=) c.2123C= (p.Ser708=) c.1859C= (p.Ser620=) n.3900C= | |
| 11 | g.108272735C>G | CA382515553 | ATM | c.3167C>G (p.Ser1056Ter) c.*2638C>G (n.*2638C>G) n.3317C>G c.3002C>G (p.Ser1001Ter) c.2123C>G (p.Ser708Ter) c.1859C>G (p.Ser620Ter) n.3900C>G | ClinVar |
| 11 | g.108272735C>T | CA382515555 | ATM | c.3167C>T (p.Ser1056Leu) c.*2638C>T (n.*2638C>T) n.3317C>T c.3002C>T (p.Ser1001Leu) c.2123C>T (p.Ser708Leu) c.1859C>T (p.Ser620Leu) n.3900C>T | ClinVar gnomAD v4 |
| 11 | g.108272736A= | CA1998777104 | ATM | c.3168A= (p.Ser1056=) c.*2639A= (n.*2639A=) n.3318A= c.3003A= (p.Ser1001=) c.2124A= (p.Ser708=) c.1860A= (p.Ser620=) n.3901A= | |
| 11 | g.108272736A>C | CA476745060 | ATM | c.3168A>C (p.Ser1056=) c.*2639A>C (n.*2639A>C) n.3318A>C c.3003A>C (p.Ser1001=) c.2124A>C (p.Ser708=) c.1860A>C (p.Ser620=) n.3901A>C | |
| 11 | g.108272736A>G | CA476745061 | ATM | c.3168A>G (p.Ser1056=) c.*2639A>G (n.*2639A>G) n.3318A>G c.3003A>G (p.Ser1001=) c.2124A>G (p.Ser708=) c.1860A>G (p.Ser620=) n.3901A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108272736A>T | CA476745062 | ATM | c.3168A>T (p.Ser1056=) c.*2639A>T (n.*2639A>T) n.3318A>T c.3003A>T (p.Ser1001=) c.2124A>T (p.Ser708=) c.1860A>T (p.Ser620=) n.3901A>T | dbSNP |
| 11 | g.108272739dup | CA2573146649 | ATM | c.3171dup (p.Trp1058MetfsTer5) c.*2642dup (n.*2642dup) n.3321dup c.3006dup (p.Trp1003MetfsTer5) c.2127dup (p.Trp710MetfsTer5) c.1863dup (p.Trp622MetfsTer5) n.3904dup | ClinVar dbSNP |
| 11 | g.108272739del | CA2739270909 | ATM | c.3171del (p.Lys1057AsnfsTer7) c.*2642del (n.*2642del) n.3321del c.3006del (p.Lys1002AsnfsTer7) c.2127del (p.Lys709AsnfsTer7) c.1863del (p.Lys621AsnfsTer7) n.3904del | ClinVar |
| 11 | g.108272737A>C | CA382515559 | ATM | c.3169A>C (p.Lys1057Gln) c.*2640A>C (n.*2640A>C) n.3319A>C c.3004A>C (p.Lys1002Gln) c.2125A>C (p.Lys709Gln) c.1861A>C (p.Lys621Gln) n.3902A>C | ClinVar dbSNP |
| 11 | g.108272737A>G | CA382515560 | ATM | c.3169A>G (p.Lys1057Glu) c.*2640A>G (n.*2640A>G) n.3319A>G c.3004A>G (p.Lys1002Glu) c.2125A>G (p.Lys709Glu) c.1861A>G (p.Lys621Glu) n.3902A>G | gnomAD v4 |
| 11 | g.108272737A>T | CA382515562 | ATM | c.3169A>T (p.Lys1057Ter) c.*2640A>T (n.*2640A>T) n.3319A>T c.3004A>T (p.Lys1002Ter) c.2125A>T (p.Lys709Ter) c.1861A>T (p.Lys621Ter) n.3902A>T | ClinVar dbSNP |
| 11 | g.108272738A>C | CA382515569 | ATM | c.3170A>C (p.Lys1057Thr) c.*2641A>C (n.*2641A>C) n.3320A>C c.3005A>C (p.Lys1002Thr) c.2126A>C (p.Lys709Thr) c.1862A>C (p.Lys621Thr) n.3903A>C | ClinVar |
| 11 | g.108272738A>G | CA382515563 | ATM | c.3170A>G (p.Lys1057Arg) c.*2641A>G (n.*2641A>G) n.3320A>G c.3005A>G (p.Lys1002Arg) c.2126A>G (p.Lys709Arg) c.1862A>G (p.Lys621Arg) n.3903A>G | |
| 11 | g.108272738A>T | CA382515566 | ATM | c.3170A>T (p.Lys1057Ile) c.*2641A>T (n.*2641A>T) n.3320A>T c.3005A>T (p.Lys1002Ile) c.2126A>T (p.Lys709Ile) c.1862A>T (p.Lys621Ile) n.3903A>T | |
| 11 | g.108272739A>C | CA382515573 | ATM | c.3171A>C (p.Lys1057Asn) c.*2642A>C (n.*2642A>C) n.3321A>C c.3006A>C (p.Lys1002Asn) c.2127A>C (p.Lys709Asn) c.1863A>C (p.Lys621Asn) n.3904A>C | |
| 11 | g.108272739A>G | CA476745065 | ATM | c.3171A>G (p.Lys1057=) c.*2642A>G (n.*2642A>G) n.3321A>G c.3006A>G (p.Lys1002=) c.2127A>G (p.Lys709=) c.1863A>G (p.Lys621=) n.3904A>G | ClinVar |
| 11 | g.108272739A>T | CA382515575 | ATM | c.3171A>T (p.Lys1057Asn) c.*2642A>T (n.*2642A>T) n.3321A>T c.3006A>T (p.Lys1002Asn) c.2127A>T (p.Lys709Asn) c.1863A>T (p.Lys621Asn) n.3904A>T | dbSNP |
| 11 | g.108272740T>A | CA382515579 | ATM | c.3172T>A (p.Trp1058Arg) c.*2643T>A (n.*2643T>A) n.3322T>A c.3007T>A (p.Trp1003Arg) c.2128T>A (p.Trp710Arg) c.1864T>A (p.Trp622Arg) n.3905T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108272740T>C | CA382515581 | ATM | c.3172T>C (p.Trp1058Arg) c.*2643T>C (n.*2643T>C) n.3322T>C c.3007T>C (p.Trp1003Arg) c.2128T>C (p.Trp710Arg) c.1864T>C (p.Trp622Arg) n.3905T>C | |
| 11 | g.108272740T>G | CA382515583 | ATM | c.3172T>G (p.Trp1058Gly) c.*2643T>G (n.*2643T>G) n.3322T>G c.3007T>G (p.Trp1003Gly) c.2128T>G (p.Trp710Gly) c.1864T>G (p.Trp622Gly) n.3905T>G | ClinVar |
| 11 | g.108272740T= | CA1998777109 | ATM | c.3172T= (p.Trp1058=) c.*2643T= (n.*2643T=) n.3322T= c.3007T= (p.Trp1003=) c.2128T= (p.Trp710=) c.1864T= (p.Trp622=) n.3905T= | |
| 11 | g.108272741G>A | CA382515586 | ATM | c.3173G>A (p.Trp1058Ter) c.*2644G>A (n.*2644G>A) n.3323G>A c.3008G>A (p.Trp1003Ter) c.2129G>A (p.Trp710Ter) c.1865G>A (p.Trp622Ter) n.3906G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108272741G>C | CA382515590 | ATM | c.3173G>C (p.Trp1058Ser) c.*2644G>C (n.*2644G>C) n.3323G>C c.3008G>C (p.Trp1003Ser) c.2129G>C (p.Trp710Ser) c.1865G>C (p.Trp622Ser) n.3906G>C | dbSNP |
| 11 | g.108272741G= | CA1998777115 | ATM | c.3173G= (p.Trp1058=) c.*2644G= (n.*2644G=) n.3323G= c.3008G= (p.Trp1003=) c.2129G= (p.Trp710=) c.1865G= (p.Trp622=) n.3906G= | |
| 11 | g.108272741G>T | CA382515588 | ATM | c.3173G>T (p.Trp1058Leu) c.*2644G>T (n.*2644G>T) n.3323G>T c.3008G>T (p.Trp1003Leu) c.2129G>T (p.Trp710Leu) c.1865G>T (p.Trp622Leu) n.3906G>T | ClinVar gnomAD v4 |
| 11 | g.108272743del | CA2725190351 | ATM | c.3175del (p.Ala1059ProfsTer5) c.*2646del (n.*2646del) n.3325del c.3010del (p.Ala1004ProfsTer5) c.2131del (p.Ala711ProfsTer5) c.1867del (p.Ala623ProfsTer5) n.3908del | dbSNP |
| 11 | g.108272742G>A | CA382515593 | ATM | c.3174G>A (p.Trp1058Ter) c.*2645G>A (n.*2645G>A) n.3324G>A c.3009G>A (p.Trp1003Ter) c.2130G>A (p.Trp710Ter) c.1866G>A (p.Trp622Ter) n.3907G>A | ClinVar dbSNP |
| 11 | g.108272742G>C | CA16619156 | ATM | c.3174G>C (p.Trp1058Cys) c.*2645G>C (n.*2645G>C) n.3324G>C c.3009G>C (p.Trp1003Cys) c.2130G>C (p.Trp710Cys) c.1866G>C (p.Trp622Cys) n.3907G>C | ClinVar dbSNP |
| 11 | g.108272742G= | CA1998777119 | ATM | c.3174G= (p.Trp1058=) c.*2645G= (n.*2645G=) n.3324G= c.3009G= (p.Trp1003=) c.2130G= (p.Trp710=) c.1866G= (p.Trp622=) n.3907G= | |
| 11 | g.108272742G>T | CA382515596 | ATM | c.3174G>T (p.Trp1058Cys) c.*2645G>T (n.*2645G>T) n.3324G>T c.3009G>T (p.Trp1003Cys) c.2130G>T (p.Trp710Cys) c.1866G>T (p.Trp622Cys) n.3907G>T | dbSNP |
| 11 | g.108272743G>A | CA204829 | ATM | c.3175G>A (p.Ala1059Thr) c.*2646G>A (n.*2646G>A) n.3325G>A c.3010G>A (p.Ala1004Thr) c.2131G>A (p.Ala711Thr) c.1867G>A (p.Ala623Thr) n.3908G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272743G>C | CA382515598 | ATM | c.3175G>C (p.Ala1059Pro) c.*2646G>C (n.*2646G>C) n.3325G>C c.3010G>C (p.Ala1004Pro) c.2131G>C (p.Ala711Pro) c.1867G>C (p.Ala623Pro) n.3908G>C | dbSNP |
| 11 | g.108272743G= | CA1998777126 | ATM | c.3175G= (p.Ala1059=) c.*2646G= (n.*2646G=) n.3325G= c.3010G= (p.Ala1004=) c.2131G= (p.Ala711=) c.1867G= (p.Ala623=) n.3908G= | |
| 11 | g.108272743G>T | CA6265219 | ATM | c.3175G>T (p.Ala1059Ser) c.*2646G>T (n.*2646G>T) n.3325G>T c.3010G>T (p.Ala1004Ser) c.2131G>T (p.Ala711Ser) c.1867G>T (p.Ala623Ser) n.3908G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108272744C>A | CA382515602 | ATM | c.3176C>A (p.Ala1059Asp) c.*2647C>A (n.*2647C>A) n.3326C>A c.3011C>A (p.Ala1004Asp) c.2132C>A (p.Ala711Asp) c.1868C>A (p.Ala623Asp) n.3909C>A | dbSNP |
| 11 | g.108272744C= | CA1998777131 | ATM | c.3176C= (p.Ala1059=) c.*2647C= (n.*2647C=) n.3326C= c.3011C= (p.Ala1004=) c.2132C= (p.Ala711=) c.1868C= (p.Ala623=) n.3909C= | |
| 11 | g.108272744C>G | CA382515604 | ATM | c.3176C>G (p.Ala1059Gly) c.*2647C>G (n.*2647C>G) n.3326C>G c.3011C>G (p.Ala1004Gly) c.2132C>G (p.Ala711Gly) c.1868C>G (p.Ala623Gly) n.3909C>G | dbSNP |
| 11 | g.108272744C>T | CA6265220 | ATM | c.3176C>T (p.Ala1059Val) c.*2647C>T (n.*2647C>T) n.3326C>T c.3011C>T (p.Ala1004Val) c.2132C>T (p.Ala711Val) c.1868C>T (p.Ala623Val) n.3909C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272745C>A | CA476745072 | ATM | c.3177C>A (p.Ala1059=) c.*2648C>A (n.*2648C>A) n.3327C>A c.3012C>A (p.Ala1004=) c.2133C>A (p.Ala711=) c.1869C>A (p.Ala623=) n.3910C>A | dbSNP |
| 11 | g.108272745C= | CA1998777135 | ATM | c.3177C= (p.Ala1059=) c.*2648C= (n.*2648C=) n.3327C= c.3012C= (p.Ala1004=) c.2133C= (p.Ala711=) c.1869C= (p.Ala623=) n.3910C= |