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 |
|---|---|---|---|---|---|
| 5 | g.36995672_36995684del | CA2695204244 | NIPBL | c.3172_3184del (p.Glu1058ProfsTer8) n.523_535del n.2792_2804del c.1-68906_1-68894del (n.1-68906_1-68894del) c.2428_2440del (p.Glu810ProfsTer8) c.3122-5145_3122-5133del (n.3122-5145_3122-5133del) c.2512_2524del (p.Glu838ProfsTer8) c.1555_1567del (p.Glu519ProfsTer8) c.1546_1558del (p.Glu516ProfsTer8) | |
| 5 | g.36995678del | CA2573139574 | NIPBL | c.3178del (p.Glu1060SerfsTer10) n.529del n.2798del c.1-68900del (n.1-68900del) c.2434del (p.Glu812SerfsTer10) c.3122-5139del (n.3122-5139del) c.2518del (p.Glu840SerfsTer10) c.1561del (p.Glu521SerfsTer10) c.1552del (p.Glu518SerfsTer10) | ClinVar dbSNP |
| 5 | g.36995678G>A | CA359513468 | NIPBL | c.3178G>A (p.Glu1060Lys) n.529G>A n.2798G>A c.1-68900G>A (n.1-68900G>A) c.2434G>A (p.Glu812Lys) c.3122-5139G>A (n.3122-5139G>A) c.2518G>A (p.Glu840Lys) c.1561G>A (p.Glu521Lys) c.1552G>A (p.Glu518Lys) | |
| 5 | g.36995678G>C | CA359513469 | NIPBL | c.3178G>C (p.Glu1060Gln) n.529G>C n.2798G>C c.1-68900G>C (n.1-68900G>C) c.2434G>C (p.Glu812Gln) c.3122-5139G>C (n.3122-5139G>C) c.2518G>C (p.Glu840Gln) c.1561G>C (p.Glu521Gln) c.1552G>C (p.Glu518Gln) | |
| 5 | g.36995678G>T | CA359513470 | NIPBL | c.3178G>T (p.Glu1060Ter) n.529G>T n.2798G>T c.1-68900G>T (n.1-68900G>T) c.2434G>T (p.Glu812Ter) c.3122-5139G>T (n.3122-5139G>T) c.2518G>T (p.Glu840Ter) c.1561G>T (p.Glu521Ter) c.1552G>T (p.Glu518Ter) | |
| 5 | g.36995679A>C | CA359513471 | NIPBL | c.3179A>C (p.Glu1060Ala) n.530A>C n.2799A>C c.1-68899A>C (n.1-68899A>C) c.2435A>C (p.Glu812Ala) c.3122-5138A>C (n.3122-5138A>C) c.2519A>C (p.Glu840Ala) c.1562A>C (p.Glu521Ala) c.1553A>C (p.Glu518Ala) | |
| 5 | g.36995679A>G | CA359513472 | NIPBL | c.3179A>G (p.Glu1060Gly) n.530A>G n.2799A>G c.1-68899A>G (n.1-68899A>G) c.2435A>G (p.Glu812Gly) c.3122-5138A>G (n.3122-5138A>G) c.2519A>G (p.Glu840Gly) c.1562A>G (p.Glu521Gly) c.1553A>G (p.Glu518Gly) | |
| 5 | g.36995679A>T | CA359513473 | NIPBL | c.3179A>T (p.Glu1060Val) n.530A>T n.2799A>T c.1-68899A>T (n.1-68899A>T) c.2435A>T (p.Glu812Val) c.3122-5138A>T (n.3122-5138A>T) c.2519A>T (p.Glu840Val) c.1562A>T (p.Glu521Val) c.1553A>T (p.Glu518Val) | |
| 5 | g.36995680G>A | CA3236297 | NIPBL | c.3180G>A (p.Glu1060=) n.531G>A n.2800G>A c.1-68898G>A (n.1-68898G>A) c.2436G>A (p.Glu812=) c.3122-5137G>A (n.3122-5137G>A) c.2520G>A (p.Glu840=) c.1563G>A (p.Glu521=) c.1554G>A (p.Glu518=) | dbSNP ExAC |
| 5 | g.36995680G>C | CA359513474 | NIPBL | c.3180G>C (p.Glu1060Asp) n.531G>C n.2800G>C c.1-68898G>C (n.1-68898G>C) c.2436G>C (p.Glu812Asp) c.3122-5137G>C (n.3122-5137G>C) c.2520G>C (p.Glu840Asp) c.1563G>C (p.Glu521Asp) c.1554G>C (p.Glu518Asp) | |
| 5 | g.36995680G= | CA1539592741 | NIPBL | c.3180G= (p.Glu1060=) n.531G= n.2800G= c.1-68898G= (n.1-68898G=) c.2436G= (p.Glu812=) c.3122-5137G= (n.3122-5137G=) c.2520G= (p.Glu840=) c.1563G= (p.Glu521=) c.1554G= (p.Glu518=) | |
| 5 | g.36995680G>T | CA359513475 | NIPBL | c.3180G>T (p.Glu1060Asp) n.531G>T n.2800G>T c.1-68898G>T (n.1-68898G>T) c.2436G>T (p.Glu812Asp) c.3122-5137G>T (n.3122-5137G>T) c.2520G>T (p.Glu840Asp) c.1563G>T (p.Glu521Asp) c.1554G>T (p.Glu518Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.36995681T>A | CA359513476 | NIPBL | c.3181T>A (p.Ser1061Thr) n.532T>A n.2801T>A c.1-68897T>A (n.1-68897T>A) c.2437T>A (p.Ser813Thr) c.3122-5136T>A (n.3122-5136T>A) c.2521T>A (p.Ser841Thr) c.1564T>A (p.Ser522Thr) c.1555T>A (p.Ser519Thr) | |
| 5 | g.36995681T>C | CA359513477 | NIPBL | c.3181T>C (p.Ser1061Pro) n.532T>C n.2801T>C c.1-68897T>C (n.1-68897T>C) c.2437T>C (p.Ser813Pro) c.3122-5136T>C (n.3122-5136T>C) c.2521T>C (p.Ser841Pro) c.1564T>C (p.Ser522Pro) c.1555T>C (p.Ser519Pro) | |
| 5 | g.36995681T>G | CA359513478 | NIPBL | c.3181T>G (p.Ser1061Ala) n.532T>G n.2801T>G c.1-68897T>G (n.1-68897T>G) c.2437T>G (p.Ser813Ala) c.3122-5136T>G (n.3122-5136T>G) c.2521T>G (p.Ser841Ala) c.1564T>G (p.Ser522Ala) c.1555T>G (p.Ser519Ala) | |
| 5 | g.36995682C>A | CA359513480 | NIPBL | c.3182C>A (p.Ser1061Tyr) n.533C>A n.2802C>A c.1-68896C>A (n.1-68896C>A) c.2438C>A (p.Ser813Tyr) c.3122-5135C>A (n.3122-5135C>A) c.2522C>A (p.Ser841Tyr) c.1565C>A (p.Ser522Tyr) c.1556C>A (p.Ser519Tyr) | |
| 5 | g.36995682C>G | CA359513481 | NIPBL | c.3182C>G (p.Ser1061Cys) n.533C>G n.2802C>G c.1-68896C>G (n.1-68896C>G) c.2438C>G (p.Ser813Cys) c.3122-5135C>G (n.3122-5135C>G) c.2522C>G (p.Ser841Cys) c.1565C>G (p.Ser522Cys) c.1556C>G (p.Ser519Cys) | |
| 5 | g.36995682C>T | CA359513479 | NIPBL | c.3182C>T (p.Ser1061Phe) n.533C>T n.2802C>T c.1-68896C>T (n.1-68896C>T) c.2438C>T (p.Ser813Phe) c.3122-5135C>T (n.3122-5135C>T) c.2522C>T (p.Ser841Phe) c.1565C>T (p.Ser522Phe) c.1556C>T (p.Ser519Phe) | |
| 5 | g.36995683C>A | CA443903908 | NIPBL | c.3183C>A (p.Ser1061=) n.534C>A n.2803C>A c.1-68895C>A (n.1-68895C>A) c.2439C>A (p.Ser813=) c.3122-5134C>A (n.3122-5134C>A) c.2523C>A (p.Ser841=) c.1566C>A (p.Ser522=) c.1557C>A (p.Ser519=) | dbSNP |
| 5 | g.36995683C= | CA1539592751 | NIPBL | c.3183C= (p.Ser1061=) n.534C= n.2803C= c.1-68895C= (n.1-68895C=) c.2439C= (p.Ser813=) c.3122-5134C= (n.3122-5134C=) c.2523C= (p.Ser841=) c.1566C= (p.Ser522=) c.1557C= (p.Ser519=) | |
| 5 | g.36995683C>G | CA443903909 | NIPBL | c.3183C>G (p.Ser1061=) n.534C>G n.2803C>G c.1-68895C>G (n.1-68895C>G) c.2439C>G (p.Ser813=) c.3122-5134C>G (n.3122-5134C>G) c.2523C>G (p.Ser841=) c.1566C>G (p.Ser522=) c.1557C>G (p.Ser519=) | |
| 5 | g.36995683C>T | CA3236298 | NIPBL | c.3183C>T (p.Ser1061=) n.534C>T n.2803C>T c.1-68895C>T (n.1-68895C>T) c.2439C>T (p.Ser813=) c.3122-5134C>T (n.3122-5134C>T) c.2523C>T (p.Ser841=) c.1566C>T (p.Ser522=) c.1557C>T (p.Ser519=) | dbSNP ExAC |
| 5 | g.36995684A>C | CA359513482 | NIPBL | c.3184A>C (p.Thr1062Pro) n.535A>C n.2804A>C c.1-68894A>C (n.1-68894A>C) c.2440A>C (p.Thr814Pro) c.3122-5133A>C (n.3122-5133A>C) c.2524A>C (p.Thr842Pro) c.1567A>C (p.Thr523Pro) c.1558A>C (p.Thr520Pro) | |
| 5 | g.36995684A>G | CA359513483 | NIPBL | c.3184A>G (p.Thr1062Ala) n.535A>G n.2804A>G c.1-68894A>G (n.1-68894A>G) c.2440A>G (p.Thr814Ala) c.3122-5133A>G (n.3122-5133A>G) c.2524A>G (p.Thr842Ala) c.1567A>G (p.Thr523Ala) c.1558A>G (p.Thr520Ala) | |
| 5 | g.36995684A>T | CA359513484 | NIPBL | c.3184A>T (p.Thr1062Ser) n.535A>T n.2804A>T c.1-68894A>T (n.1-68894A>T) c.2440A>T (p.Thr814Ser) c.3122-5133A>T (n.3122-5133A>T) c.2524A>T (p.Thr842Ser) c.1567A>T (p.Thr523Ser) c.1558A>T (p.Thr520Ser) | |
| 5 | g.36995685C>A | CA359513485 | NIPBL | c.3185C>A (p.Thr1062Asn) n.536C>A n.2805C>A c.1-68893C>A (n.1-68893C>A) c.2441C>A (p.Thr814Asn) c.3122-5132C>A (n.3122-5132C>A) c.2525C>A (p.Thr842Asn) c.1568C>A (p.Thr523Asn) c.1559C>A (p.Thr520Asn) | |
| 5 | g.36995685C>G | CA359513486 | NIPBL | c.3185C>G (p.Thr1062Ser) n.536C>G n.2805C>G c.1-68893C>G (n.1-68893C>G) c.2441C>G (p.Thr814Ser) c.3122-5132C>G (n.3122-5132C>G) c.2525C>G (p.Thr842Ser) c.1568C>G (p.Thr523Ser) c.1559C>G (p.Thr520Ser) | |
| 5 | g.36995685C>T | CA359513487 | NIPBL | c.3185C>T (p.Thr1062Ile) n.536C>T n.2805C>T c.1-68893C>T (n.1-68893C>T) c.2441C>T (p.Thr814Ile) c.3122-5132C>T (n.3122-5132C>T) c.2525C>T (p.Thr842Ile) c.1568C>T (p.Thr523Ile) c.1559C>T (p.Thr520Ile) | gnomAD v4 |
| 5 | g.36995686C>A | CA117052781 | NIPBL | c.3186C>A (p.Thr1062=) n.537C>A n.2806C>A c.1-68892C>A (n.1-68892C>A) c.2442C>A (p.Thr814=) c.3122-5131C>A (n.3122-5131C>A) c.2526C>A (p.Thr842=) c.1569C>A (p.Thr523=) c.1560C>A (p.Thr520=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36995686C= | CA1539592762 | NIPBL | c.3186C= (p.Thr1062=) n.537C= n.2806C= c.1-68892C= (n.1-68892C=) c.2442C= (p.Thr814=) c.3122-5131C= (n.3122-5131C=) c.2526C= (p.Thr842=) c.1569C= (p.Thr523=) c.1560C= (p.Thr520=) | |
| 5 | g.36995686C>G | CA443903910 | NIPBL | c.3186C>G (p.Thr1062=) n.537C>G n.2806C>G c.1-68892C>G (n.1-68892C>G) c.2442C>G (p.Thr814=) c.3122-5131C>G (n.3122-5131C>G) c.2526C>G (p.Thr842=) c.1569C>G (p.Thr523=) c.1560C>G (p.Thr520=) | |
| 5 | g.36995686C>T | CA443903911 | NIPBL | c.3186C>T (p.Thr1062=) n.537C>T n.2806C>T c.1-68892C>T (n.1-68892C>T) c.2442C>T (p.Thr814=) c.3122-5131C>T (n.3122-5131C>T) c.2526C>T (p.Thr842=) c.1569C>T (p.Thr523=) c.1560C>T (p.Thr520=) | gnomAD v4 |
| 5 | g.36995687A= | CA1539592769 | NIPBL | c.3187A= (p.Met1063=) n.538A= n.2807A= c.1-68891A= (n.1-68891A=) c.2443A= (p.Met815=) c.3122-5130A= (n.3122-5130A=) c.2527A= (p.Met843=) c.1570A= (p.Met524=) c.1561A= (p.Met521=) | |
| 5 | g.36995687A>C | CA359513488 | NIPBL | c.3187A>C (p.Met1063Leu) n.538A>C n.2807A>C c.1-68891A>C (n.1-68891A>C) c.2443A>C (p.Met815Leu) c.3122-5130A>C (n.3122-5130A>C) c.2527A>C (p.Met843Leu) c.1570A>C (p.Met524Leu) c.1561A>C (p.Met521Leu) | |
| 5 | g.36995687A>G | CA359513489 | NIPBL | c.3187A>G (p.Met1063Val) n.538A>G n.2807A>G c.1-68891A>G (n.1-68891A>G) c.2443A>G (p.Met815Val) c.3122-5130A>G (n.3122-5130A>G) c.2527A>G (p.Met843Val) c.1570A>G (p.Met524Val) c.1561A>G (p.Met521Val) | dbSNP gnomAD v4 |
| 5 | g.36995687A>T | CA359513490 | NIPBL | c.3187A>T (p.Met1063Leu) n.538A>T n.2807A>T c.1-68891A>T (n.1-68891A>T) c.2443A>T (p.Met815Leu) c.3122-5130A>T (n.3122-5130A>T) c.2527A>T (p.Met843Leu) c.1570A>T (p.Met524Leu) c.1561A>T (p.Met521Leu) | |
| 5 | g.36995688T>A | CA359513491 | NIPBL | c.3188T>A (p.Met1063Lys) n.539T>A n.2808T>A c.1-68890T>A (n.1-68890T>A) c.2444T>A (p.Met815Lys) c.3122-5129T>A (n.3122-5129T>A) c.2528T>A (p.Met843Lys) c.1571T>A (p.Met524Lys) c.1562T>A (p.Met521Lys) | |
| 5 | g.36995688T>C | CA359513492 | NIPBL | c.3188T>C (p.Met1063Thr) n.539T>C n.2808T>C c.1-68890T>C (n.1-68890T>C) c.2444T>C (p.Met815Thr) c.3122-5129T>C (n.3122-5129T>C) c.2528T>C (p.Met843Thr) c.1571T>C (p.Met524Thr) c.1562T>C (p.Met521Thr) | |
| 5 | g.36995688T>G | CA359513493 | NIPBL | c.3188T>G (p.Met1063Arg) n.539T>G n.2808T>G c.1-68890T>G (n.1-68890T>G) c.2444T>G (p.Met815Arg) c.3122-5129T>G (n.3122-5129T>G) c.2528T>G (p.Met843Arg) c.1571T>G (p.Met524Arg) c.1562T>G (p.Met521Arg) | |
| 5 | g.36995689G>A | CA359513496 | NIPBL | c.3189G>A (p.Met1063Ile) n.540G>A n.2809G>A c.1-68889G>A (n.1-68889G>A) c.2445G>A (p.Met815Ile) c.3122-5128G>A (n.3122-5128G>A) c.2529G>A (p.Met843Ile) c.1572G>A (p.Met524Ile) c.1563G>A (p.Met521Ile) | dbSNP |
| 5 | g.36995689G>C | CA359513494 | NIPBL | c.3189G>C (p.Met1063Ile) n.540G>C n.2809G>C c.1-68889G>C (n.1-68889G>C) c.2445G>C (p.Met815Ile) c.3122-5128G>C (n.3122-5128G>C) c.2529G>C (p.Met843Ile) c.1572G>C (p.Met524Ile) c.1563G>C (p.Met521Ile) | |
| 5 | g.36995689G= | CA1539592774 | NIPBL | c.3189G= (p.Met1063=) n.540G= n.2809G= c.1-68889G= (n.1-68889G=) c.2445G= (p.Met815=) c.3122-5128G= (n.3122-5128G=) c.2529G= (p.Met843=) c.1572G= (p.Met524=) c.1563G= (p.Met521=) | |
| 5 | g.36995689G>T | CA359513495 | NIPBL | c.3189G>T (p.Met1063Ile) n.540G>T n.2809G>T c.1-68889G>T (n.1-68889G>T) c.2445G>T (p.Met815Ile) c.3122-5128G>T (n.3122-5128G>T) c.2529G>T (p.Met843Ile) c.1572G>T (p.Met524Ile) c.1563G>T (p.Met521Ile) | |
| 5 | g.36995690C>A | CA359513497 | NIPBL | c.3190C>A (p.Pro1064Thr) n.541C>A n.2810C>A c.1-68888C>A (n.1-68888C>A) c.2446C>A (p.Pro816Thr) c.3122-5127C>A (n.3122-5127C>A) c.2530C>A (p.Pro844Thr) c.1573C>A (p.Pro525Thr) c.1564C>A (p.Pro522Thr) | |
| 5 | g.36995690C>G | CA359513498 | NIPBL | c.3190C>G (p.Pro1064Ala) n.541C>G n.2810C>G c.1-68888C>G (n.1-68888C>G) c.2446C>G (p.Pro816Ala) c.3122-5127C>G (n.3122-5127C>G) c.2530C>G (p.Pro844Ala) c.1573C>G (p.Pro525Ala) c.1564C>G (p.Pro522Ala) | |
| 5 | g.36995690C>T | CA359513499 | NIPBL | c.3190C>T (p.Pro1064Ser) n.541C>T n.2810C>T c.1-68888C>T (n.1-68888C>T) c.2446C>T (p.Pro816Ser) c.3122-5127C>T (n.3122-5127C>T) c.2530C>T (p.Pro844Ser) c.1573C>T (p.Pro525Ser) c.1564C>T (p.Pro522Ser) | COSMIC COSMIC |
| 5 | g.36995691C>A | CA359513500 | NIPBL | c.3191C>A (p.Pro1064Gln) n.542C>A n.2811C>A c.1-68887C>A (n.1-68887C>A) c.2447C>A (p.Pro816Gln) c.3122-5126C>A (n.3122-5126C>A) c.2531C>A (p.Pro844Gln) c.1574C>A (p.Pro525Gln) c.1565C>A (p.Pro522Gln) | |
| 5 | g.36995691C>G | CA359513501 | NIPBL | c.3191C>G (p.Pro1064Arg) n.542C>G n.2811C>G c.1-68887C>G (n.1-68887C>G) c.2447C>G (p.Pro816Arg) c.3122-5126C>G (n.3122-5126C>G) c.2531C>G (p.Pro844Arg) c.1574C>G (p.Pro525Arg) c.1565C>G (p.Pro522Arg) | |
| 5 | g.36995691C>T | CA359513502 | NIPBL | c.3191C>T (p.Pro1064Leu) n.542C>T n.2811C>T c.1-68887C>T (n.1-68887C>T) c.2447C>T (p.Pro816Leu) c.3122-5126C>T (n.3122-5126C>T) c.2531C>T (p.Pro844Leu) c.1574C>T (p.Pro525Leu) c.1565C>T (p.Pro522Leu) | |
| 5 | g.36995692A>C | CA443903914 | NIPBL | c.3192A>C (p.Pro1064=) n.543A>C n.2812A>C c.1-68886A>C (n.1-68886A>C) c.2448A>C (p.Pro816=) c.3122-5125A>C (n.3122-5125A>C) c.2532A>C (p.Pro844=) c.1575A>C (p.Pro525=) c.1566A>C (p.Pro522=) |