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.37022051_37022149del | CA2695204335 | NIPBL | c.5329_5427del c.1-42527_1-42429del (n.1-42527_1-42429del) c.4585_4683del c.5131_5229del c.4948_5046del c.4669_4767del c.3712_3810del c.3703_3801del | |
| 5 | g.37022108_37022112delinsTTGTC | CA1539587579 | NIPBL | c.5386_5390delinsTTGTC (p.Leu1796=) c.1-42470_1-42466delinsTTGTC (n.1-42470_1-42466delinsTTGTC) c.4642_4646delinsTTGTC (p.Leu1548=) c.5188_5192delinsTTGTC (p.Leu1730=) c.5005_5009delinsTTGTC (p.Leu1669=) c.4726_4730delinsTTGTC (p.Leu1576=) c.3769_3773delinsTTGTC (p.Leu1257=) c.3760_3764delinsTTGTC (p.Leu1254=) | |
| 5 | g.37022111_37022114del | CA272147 | NIPBL | c.5389_5392del (p.Ser1797ArgfsTer5) c.1-42467_1-42464del (n.1-42467_1-42464del) c.4645_4648del (p.Ser1549ArgfsTer5) c.5191_5194del (p.Ser1731ArgfsTer5) c.5008_5011del (p.Ser1670ArgfsTer5) c.4729_4732del (p.Ser1577ArgfsTer5) c.3772_3775del (p.Ser1258ArgfsTer5) c.3763_3766del (p.Ser1255ArgfsTer5) | ClinVar dbSNP |
| 5 | g.37022111T>A | CA359489562 | NIPBL | c.5389T>A (p.Ser1797Thr) c.1-42467T>A (n.1-42467T>A) c.4645T>A (p.Ser1549Thr) c.5191T>A (p.Ser1731Thr) c.5008T>A (p.Ser1670Thr) c.4729T>A (p.Ser1577Thr) c.3772T>A (p.Ser1258Thr) c.3763T>A (p.Ser1255Thr) | |
| 5 | g.37022111T>C | CA359489566 | NIPBL | c.5389T>C (p.Ser1797Pro) c.1-42467T>C (n.1-42467T>C) c.4645T>C (p.Ser1549Pro) c.5191T>C (p.Ser1731Pro) c.5008T>C (p.Ser1670Pro) c.4729T>C (p.Ser1577Pro) c.3772T>C (p.Ser1258Pro) c.3763T>C (p.Ser1255Pro) | |
| 5 | g.37022111T>G | CA359489568 | NIPBL | c.5389T>G (p.Ser1797Ala) c.1-42467T>G (n.1-42467T>G) c.4645T>G (p.Ser1549Ala) c.5191T>G (p.Ser1731Ala) c.5008T>G (p.Ser1670Ala) c.4729T>G (p.Ser1577Ala) c.3772T>G (p.Ser1258Ala) c.3763T>G (p.Ser1255Ala) | |
| 5 | g.37022112C>A | CA359489574 | NIPBL | c.5390C>A (p.Ser1797Tyr) c.1-42466C>A (n.1-42466C>A) c.4646C>A (p.Ser1549Tyr) c.5192C>A (p.Ser1731Tyr) c.5009C>A (p.Ser1670Tyr) c.4730C>A (p.Ser1577Tyr) c.3773C>A (p.Ser1258Tyr) c.3764C>A (p.Ser1255Tyr) | |
| 5 | g.37022112C= | CA1539587592 | NIPBL | c.5390C= (p.Ser1797=) c.1-42466C= (n.1-42466C=) c.4646C= (p.Ser1549=) c.5192C= (p.Ser1731=) c.5009C= (p.Ser1670=) c.4730C= (p.Ser1577=) c.3773C= (p.Ser1258=) c.3764C= (p.Ser1255=) | |
| 5 | g.37022112C>G | CA359489582 | NIPBL | c.5390C>G (p.Ser1797Cys) c.1-42466C>G (n.1-42466C>G) c.4646C>G (p.Ser1549Cys) c.5192C>G (p.Ser1731Cys) c.5009C>G (p.Ser1670Cys) c.4730C>G (p.Ser1577Cys) c.3773C>G (p.Ser1258Cys) c.3764C>G (p.Ser1255Cys) | dbSNP gnomAD v2 |
| 5 | g.37022112C>T | CA359489571 | NIPBL | c.5390C>T (p.Ser1797Phe) c.1-42466C>T (n.1-42466C>T) c.4646C>T (p.Ser1549Phe) c.5192C>T (p.Ser1731Phe) c.5009C>T (p.Ser1670Phe) c.4730C>T (p.Ser1577Phe) c.3773C>T (p.Ser1258Phe) c.3764C>T (p.Ser1255Phe) | |
| 5 | g.37022113T>A | CA443905303 | NIPBL | c.5391T>A (p.Ser1797=) c.1-42465T>A (n.1-42465T>A) c.4647T>A (p.Ser1549=) c.5193T>A (p.Ser1731=) c.5010T>A (p.Ser1670=) c.4731T>A (p.Ser1577=) c.3774T>A (p.Ser1258=) c.3765T>A (p.Ser1255=) | |
| 5 | g.37022113T>C | CA443905304 | NIPBL | c.5391T>C (p.Ser1797=) c.1-42465T>C (n.1-42465T>C) c.4647T>C (p.Ser1549=) c.5193T>C (p.Ser1731=) c.5010T>C (p.Ser1670=) c.4731T>C (p.Ser1577=) c.3774T>C (p.Ser1258=) c.3765T>C (p.Ser1255=) | |
| 5 | g.37022113T>G | CA443905306 | NIPBL | c.5391T>G (p.Ser1797=) c.1-42465T>G (n.1-42465T>G) c.4647T>G (p.Ser1549=) c.5193T>G (p.Ser1731=) c.5010T>G (p.Ser1670=) c.4731T>G (p.Ser1577=) c.3774T>G (p.Ser1258=) c.3765T>G (p.Ser1255=) | |
| 5 | g.37022114G>A | CA359489593 | NIPBL | c.5392G>A (p.Glu1798Lys) c.1-42464G>A (n.1-42464G>A) c.4648G>A (p.Glu1550Lys) c.5194G>A (p.Glu1732Lys) c.5011G>A (p.Glu1671Lys) c.4732G>A (p.Glu1578Lys) c.3775G>A (p.Glu1259Lys) c.3766G>A (p.Glu1256Lys) | |
| 5 | g.37022114G>C | CA359489586 | NIPBL | c.5392G>C (p.Glu1798Gln) c.1-42464G>C (n.1-42464G>C) c.4648G>C (p.Glu1550Gln) c.5194G>C (p.Glu1732Gln) c.5011G>C (p.Glu1671Gln) c.4732G>C (p.Glu1578Gln) c.3775G>C (p.Glu1259Gln) c.3766G>C (p.Glu1256Gln) | |
| 5 | g.37022114G>T | CA359489596 | NIPBL | c.5392G>T (p.Glu1798Ter) c.1-42464G>T (n.1-42464G>T) c.4648G>T (p.Glu1550Ter) c.5194G>T (p.Glu1732Ter) c.5011G>T (p.Glu1671Ter) c.4732G>T (p.Glu1578Ter) c.3775G>T (p.Glu1259Ter) c.3766G>T (p.Glu1256Ter) | |
| 5 | g.37022115A>C | CA359489599 | NIPBL | c.5393A>C (p.Glu1798Ala) c.1-42463A>C (n.1-42463A>C) c.4649A>C (p.Glu1550Ala) c.5195A>C (p.Glu1732Ala) c.5012A>C (p.Glu1671Ala) c.4733A>C (p.Glu1578Ala) c.3776A>C (p.Glu1259Ala) c.3767A>C (p.Glu1256Ala) | |
| 5 | g.37022115A>G | CA359489605 | NIPBL | c.5393A>G (p.Glu1798Gly) c.1-42463A>G (n.1-42463A>G) c.4649A>G (p.Glu1550Gly) c.5195A>G (p.Glu1732Gly) c.5012A>G (p.Glu1671Gly) c.4733A>G (p.Glu1578Gly) c.3776A>G (p.Glu1259Gly) c.3767A>G (p.Glu1256Gly) | |
| 5 | g.37022115A>T | CA359489607 | NIPBL | c.5393A>T (p.Glu1798Val) c.1-42463A>T (n.1-42463A>T) c.4649A>T (p.Glu1550Val) c.5195A>T (p.Glu1732Val) c.5012A>T (p.Glu1671Val) c.4733A>T (p.Glu1578Val) c.3776A>T (p.Glu1259Val) c.3767A>T (p.Glu1256Val) | |
| 5 | g.37022116G>A | CA443905309 | NIPBL | c.5394G>A (p.Glu1798=) c.1-42462G>A (n.1-42462G>A) c.4650G>A (p.Glu1550=) c.5196G>A (p.Glu1732=) c.5013G>A (p.Glu1671=) c.4734G>A (p.Glu1578=) c.3777G>A (p.Glu1259=) c.3768G>A (p.Glu1256=) | gnomAD v4 |
| 5 | g.37022116G>C | CA359489610 | NIPBL | c.5394G>C (p.Glu1798Asp) c.1-42462G>C (n.1-42462G>C) c.4650G>C (p.Glu1550Asp) c.5196G>C (p.Glu1732Asp) c.5013G>C (p.Glu1671Asp) c.4734G>C (p.Glu1578Asp) c.3777G>C (p.Glu1259Asp) c.3768G>C (p.Glu1256Asp) | |
| 5 | g.37022116G>T | CA359489611 | NIPBL | c.5394G>T (p.Glu1798Asp) c.1-42462G>T (n.1-42462G>T) c.4650G>T (p.Glu1550Asp) c.5196G>T (p.Glu1732Asp) c.5013G>T (p.Glu1671Asp) c.4734G>T (p.Glu1578Asp) c.3777G>T (p.Glu1259Asp) c.3768G>T (p.Glu1256Asp) | gnomAD v4 |
| 5 | g.37022117G>A | CA359489612 | NIPBL | c.5395G>A (p.Val1799Ile) c.1-42461G>A (n.1-42461G>A) c.4651G>A (p.Val1551Ile) c.5197G>A (p.Val1733Ile) c.5014G>A (p.Val1672Ile) c.4735G>A (p.Val1579Ile) c.3778G>A (p.Val1260Ile) c.3769G>A (p.Val1257Ile) | |
| 5 | g.37022117G>C | CA359489613 | NIPBL | c.5395G>C (p.Val1799Leu) c.1-42461G>C (n.1-42461G>C) c.4651G>C (p.Val1551Leu) c.5197G>C (p.Val1733Leu) c.5014G>C (p.Val1672Leu) c.4735G>C (p.Val1579Leu) c.3778G>C (p.Val1260Leu) c.3769G>C (p.Val1257Leu) | |
| 5 | g.37022117G>T | CA359489614 | NIPBL | c.5395G>T (p.Val1799Phe) c.1-42461G>T (n.1-42461G>T) c.4651G>T (p.Val1551Phe) c.5197G>T (p.Val1733Phe) c.5014G>T (p.Val1672Phe) c.4735G>T (p.Val1579Phe) c.3778G>T (p.Val1260Phe) c.3769G>T (p.Val1257Phe) | |
| 5 | g.37022121_37022123del | CA2580613549 | NIPBL | c.5399_5401del (p.Val1800del) c.1-42457_1-42455del (n.1-42457_1-42455del) c.4655_4657del (p.Val1552del) c.5201_5203del (p.Val1734del) c.5018_5020del (p.Val1673del) c.4739_4741del (p.Val1580del) c.3782_3784del (p.Val1261del) c.3773_3775del (p.Val1258del) | ClinVar dbSNP |
| 5 | g.37022118T>A | CA359489617 | NIPBL | c.5396T>A (p.Val1799Asp) c.1-42460T>A (n.1-42460T>A) c.4652T>A (p.Val1551Asp) c.5198T>A (p.Val1733Asp) c.5015T>A (p.Val1672Asp) c.4736T>A (p.Val1579Asp) c.3779T>A (p.Val1260Asp) c.3770T>A (p.Val1257Asp) | |
| 5 | g.37022118T>C | CA359489629 | NIPBL | c.5396T>C (p.Val1799Ala) c.1-42460T>C (n.1-42460T>C) c.4652T>C (p.Val1551Ala) c.5198T>C (p.Val1733Ala) c.5015T>C (p.Val1672Ala) c.4736T>C (p.Val1579Ala) c.3779T>C (p.Val1260Ala) c.3770T>C (p.Val1257Ala) | |
| 5 | g.37022118T>G | CA359489638 | NIPBL | c.5396T>G (p.Val1799Gly) c.1-42460T>G (n.1-42460T>G) c.4652T>G (p.Val1551Gly) c.5198T>G (p.Val1733Gly) c.5015T>G (p.Val1672Gly) c.4736T>G (p.Val1579Gly) c.3779T>G (p.Val1260Gly) c.3770T>G (p.Val1257Gly) | |
| 5 | g.37022119T>A | CA443905314 | NIPBL | c.5397T>A (p.Val1799=) c.1-42459T>A (n.1-42459T>A) c.4653T>A (p.Val1551=) c.5199T>A (p.Val1733=) c.5016T>A (p.Val1672=) c.4737T>A (p.Val1579=) c.3780T>A (p.Val1260=) c.3771T>A (p.Val1257=) | |
| 5 | g.37022119T>C | CA443905316 | NIPBL | c.5397T>C (p.Val1799=) c.1-42459T>C (n.1-42459T>C) c.4653T>C (p.Val1551=) c.5199T>C (p.Val1733=) c.5016T>C (p.Val1672=) c.4737T>C (p.Val1579=) c.3780T>C (p.Val1260=) c.3771T>C (p.Val1257=) | |
| 5 | g.37022119T>G | CA443905318 | NIPBL | c.5397T>G (p.Val1799=) c.1-42459T>G (n.1-42459T>G) c.4653T>G (p.Val1551=) c.5199T>G (p.Val1733=) c.5016T>G (p.Val1672=) c.4737T>G (p.Val1579=) c.3780T>G (p.Val1260=) c.3771T>G (p.Val1257=) | dbSNP gnomAD v4 |
| 5 | g.37022119T= | CA1539587599 | NIPBL | c.5397T= (p.Val1799=) c.1-42459T= (n.1-42459T=) c.4653T= (p.Val1551=) c.5199T= (p.Val1733=) c.5016T= (p.Val1672=) c.4737T= (p.Val1579=) c.3780T= (p.Val1260=) c.3771T= (p.Val1257=) | |
| 5 | g.37022120G>A | CA3236760 | NIPBL | c.5398G>A (p.Val1800Ile) c.1-42458G>A (n.1-42458G>A) c.4654G>A (p.Val1552Ile) c.5200G>A (p.Val1734Ile) c.5017G>A (p.Val1673Ile) c.4738G>A (p.Val1580Ile) c.3781G>A (p.Val1261Ile) c.3772G>A (p.Val1258Ile) | dbSNP ExAC gnomAD v2 |
| 5 | g.37022120G>C | CA359489658 | NIPBL | c.5398G>C (p.Val1800Leu) c.1-42458G>C (n.1-42458G>C) c.4654G>C (p.Val1552Leu) c.5200G>C (p.Val1734Leu) c.5017G>C (p.Val1673Leu) c.4738G>C (p.Val1580Leu) c.3781G>C (p.Val1261Leu) c.3772G>C (p.Val1258Leu) | |
| 5 | g.37022120G= | CA1539587603 | NIPBL | c.5398G= (p.Val1800=) c.1-42458G= (n.1-42458G=) c.4654G= (p.Val1552=) c.5200G= (p.Val1734=) c.5017G= (p.Val1673=) c.4738G= (p.Val1580=) c.3781G= (p.Val1261=) c.3772G= (p.Val1258=) | |
| 5 | g.37022120G>T | CA359489647 | NIPBL | c.5398G>T (p.Val1800Phe) c.1-42458G>T (n.1-42458G>T) c.4654G>T (p.Val1552Phe) c.5200G>T (p.Val1734Phe) c.5017G>T (p.Val1673Phe) c.4738G>T (p.Val1580Phe) c.3781G>T (p.Val1261Phe) c.3772G>T (p.Val1258Phe) | |
| 5 | g.37022121T>A | CA359489665 | NIPBL | c.5399T>A (p.Val1800Asp) c.1-42457T>A (n.1-42457T>A) c.4655T>A (p.Val1552Asp) c.5201T>A (p.Val1734Asp) c.5018T>A (p.Val1673Asp) c.4739T>A (p.Val1580Asp) c.3782T>A (p.Val1261Asp) c.3773T>A (p.Val1258Asp) | |
| 5 | g.37022121T>C | CA359489667 | NIPBL | c.5399T>C (p.Val1800Ala) c.1-42457T>C (n.1-42457T>C) c.4655T>C (p.Val1552Ala) c.5201T>C (p.Val1734Ala) c.5018T>C (p.Val1673Ala) c.4739T>C (p.Val1580Ala) c.3782T>C (p.Val1261Ala) c.3773T>C (p.Val1258Ala) | |
| 5 | g.37022121T>G | CA359489672 | NIPBL | c.5399T>G (p.Val1800Gly) c.1-42457T>G (n.1-42457T>G) c.4655T>G (p.Val1552Gly) c.5201T>G (p.Val1734Gly) c.5018T>G (p.Val1673Gly) c.4739T>G (p.Val1580Gly) c.3782T>G (p.Val1261Gly) c.3773T>G (p.Val1258Gly) | |
| 5 | g.37022122T>A | CA443905323 | NIPBL | c.5400T>A (p.Val1800=) c.1-42456T>A (n.1-42456T>A) c.4656T>A (p.Val1552=) c.5202T>A (p.Val1734=) c.5019T>A (p.Val1673=) c.4740T>A (p.Val1580=) c.3783T>A (p.Val1261=) c.3774T>A (p.Val1258=) | |
| 5 | g.37022122T>C | CA443905324 | NIPBL | c.5400T>C (p.Val1800=) c.1-42456T>C (n.1-42456T>C) c.4656T>C (p.Val1552=) c.5202T>C (p.Val1734=) c.5019T>C (p.Val1673=) c.4740T>C (p.Val1580=) c.3783T>C (p.Val1261=) c.3774T>C (p.Val1258=) | |
| 5 | g.37022122T>G | CA443905325 | NIPBL | c.5400T>G (p.Val1800=) c.1-42456T>G (n.1-42456T>G) c.4656T>G (p.Val1552=) c.5202T>G (p.Val1734=) c.5019T>G (p.Val1673=) c.4740T>G (p.Val1580=) c.3783T>G (p.Val1261=) c.3774T>G (p.Val1258=) | |
| 5 | g.37022123G>A | CA359489676 | NIPBL | c.5401G>A (p.Ala1801Thr) c.1-42455G>A (n.1-42455G>A) c.4657G>A (p.Ala1553Thr) c.5203G>A (p.Ala1735Thr) c.5020G>A (p.Ala1674Thr) c.4741G>A (p.Ala1581Thr) c.3784G>A (p.Ala1262Thr) c.3775G>A (p.Ala1259Thr) | |
| 5 | g.37022123G>C | CA359489678 | NIPBL | c.5401G>C (p.Ala1801Pro) c.1-42455G>C (n.1-42455G>C) c.4657G>C (p.Ala1553Pro) c.5203G>C (p.Ala1735Pro) c.5020G>C (p.Ala1674Pro) c.4741G>C (p.Ala1581Pro) c.3784G>C (p.Ala1262Pro) c.3775G>C (p.Ala1259Pro) | |
| 5 | g.37022123G>T | CA359489681 | NIPBL | c.5401G>T (p.Ala1801Ser) c.1-42455G>T (n.1-42455G>T) c.4657G>T (p.Ala1553Ser) c.5203G>T (p.Ala1735Ser) c.5020G>T (p.Ala1674Ser) c.4741G>T (p.Ala1581Ser) c.3784G>T (p.Ala1262Ser) c.3775G>T (p.Ala1259Ser) | |
| 5 | g.37022124C>A | CA359489685 | NIPBL | c.5402C>A (p.Ala1801Asp) c.1-42454C>A (n.1-42454C>A) c.4658C>A (p.Ala1553Asp) c.5204C>A (p.Ala1735Asp) c.5021C>A (p.Ala1674Asp) c.4742C>A (p.Ala1581Asp) c.3785C>A (p.Ala1262Asp) c.3776C>A (p.Ala1259Asp) | |
| 5 | g.37022124C= | CA1539587610 | NIPBL | c.5402C= (p.Ala1801=) c.1-42454C= (n.1-42454C=) c.4658C= (p.Ala1553=) c.5204C= (p.Ala1735=) c.5021C= (p.Ala1674=) c.4742C= (p.Ala1581=) c.3785C= (p.Ala1262=) c.3776C= (p.Ala1259=) | |
| 5 | g.37022124C>G | CA359489687 | NIPBL | c.5402C>G (p.Ala1801Gly) c.1-42454C>G (n.1-42454C>G) c.4658C>G (p.Ala1553Gly) c.5204C>G (p.Ala1735Gly) c.5021C>G (p.Ala1674Gly) c.4742C>G (p.Ala1581Gly) c.3785C>G (p.Ala1262Gly) c.3776C>G (p.Ala1259Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37022124C>T | CA359489699 | NIPBL | c.5402C>T (p.Ala1801Val) c.1-42454C>T (n.1-42454C>T) c.4658C>T (p.Ala1553Val) c.5204C>T (p.Ala1735Val) c.5021C>T (p.Ala1674Val) c.4742C>T (p.Ala1581Val) c.3785C>T (p.Ala1262Val) c.3776C>T (p.Ala1259Val) |