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.37035801_37036538del | CA2695196528 | NIPBL | c.5863-578_5971+51del c.1-28777_1-28040del (n.1-28777_1-28040del) c.5119-578_5227+51del c.5665-578_5773+51del c.5482-578_5590+51del c.5203-578_5311+51del c.4246-578_4354+51del c.4237-578_4345+51del | |
| 5 | g.37036440_37036442del | CA272174 | NIPBL | c.5924_5926del (p.Val1975del) c.1-28138_1-28136del (n.1-28138_1-28136del) c.5180_5182del (p.Val1727del) c.5726_5728del (p.Val1909del) c.5543_5545del (p.Val1848del) c.5264_5266del (p.Val1755del) c.4307_4309del (p.Val1436del) c.4298_4300del (p.Val1433del) | ClinVar dbSNP |
| 5 | g.37036440T>A | CA359496579 | NIPBL | c.5924T>A (p.Val1975Asp) c.1-28138T>A (n.1-28138T>A) c.5180T>A (p.Val1727Asp) c.5726T>A (p.Val1909Asp) c.5543T>A (p.Val1848Asp) c.5264T>A (p.Val1755Asp) c.4307T>A (p.Val1436Asp) c.4298T>A (p.Val1433Asp) | gnomAD v4 |
| 5 | g.37036440T>C | CA359496585 | NIPBL | c.5924T>C (p.Val1975Ala) c.1-28138T>C (n.1-28138T>C) c.5180T>C (p.Val1727Ala) c.5726T>C (p.Val1909Ala) c.5543T>C (p.Val1848Ala) c.5264T>C (p.Val1755Ala) c.4307T>C (p.Val1436Ala) c.4298T>C (p.Val1433Ala) | gnomAD v4 |
| 5 | g.37036440T>G | CA359496590 | NIPBL | c.5924T>G (p.Val1975Gly) c.1-28138T>G (n.1-28138T>G) c.5180T>G (p.Val1727Gly) c.5726T>G (p.Val1909Gly) c.5543T>G (p.Val1848Gly) c.5264T>G (p.Val1755Gly) c.4307T>G (p.Val1436Gly) c.4298T>G (p.Val1433Gly) | |
| 5 | g.37036441T>A | CA443905737 | NIPBL | c.5925T>A (p.Val1975=) c.1-28137T>A (n.1-28137T>A) c.5181T>A (p.Val1727=) c.5727T>A (p.Val1909=) c.5544T>A (p.Val1848=) c.5265T>A (p.Val1755=) c.4308T>A (p.Val1436=) c.4299T>A (p.Val1433=) | gnomAD v4 |
| 5 | g.37036441T>C | CA443905738 | NIPBL | c.5925T>C (p.Val1975=) c.1-28137T>C (n.1-28137T>C) c.5181T>C (p.Val1727=) c.5727T>C (p.Val1909=) c.5544T>C (p.Val1848=) c.5265T>C (p.Val1755=) c.4308T>C (p.Val1436=) c.4299T>C (p.Val1433=) | gnomAD v4 |
| 5 | g.37036441T>G | CA443905739 | NIPBL | c.5925T>G (p.Val1975=) c.1-28137T>G (n.1-28137T>G) c.5181T>G (p.Val1727=) c.5727T>G (p.Val1909=) c.5544T>G (p.Val1848=) c.5265T>G (p.Val1755=) c.4308T>G (p.Val1436=) c.4299T>G (p.Val1433=) | |
| 5 | g.37036442del | CA2578289541 | NIPBL | c.5926del (p.Asp1976IlefsTer3) c.1-28136del (n.1-28136del) c.5182del (p.Asp1728IlefsTer3) c.5728del (p.Asp1910IlefsTer3) c.5545del (p.Asp1849IlefsTer3) c.5266del (p.Asp1756IlefsTer3) c.4309del (p.Asp1437IlefsTer3) c.4300del (p.Asp1434IlefsTer3) | |
| 5 | g.37036442G>A | CA359496591 | NIPBL | c.5926G>A (p.Asp1976Asn) c.1-28136G>A (n.1-28136G>A) c.5182G>A (p.Asp1728Asn) c.5728G>A (p.Asp1910Asn) c.5545G>A (p.Asp1849Asn) c.5266G>A (p.Asp1756Asn) c.4309G>A (p.Asp1437Asn) c.4300G>A (p.Asp1434Asn) | gnomAD v4 |
| 5 | g.37036442G>C | CA359496592 | NIPBL | c.5926G>C (p.Asp1976His) c.1-28136G>C (n.1-28136G>C) c.5182G>C (p.Asp1728His) c.5728G>C (p.Asp1910His) c.5545G>C (p.Asp1849His) c.5266G>C (p.Asp1756His) c.4309G>C (p.Asp1437His) c.4300G>C (p.Asp1434His) | COSMIC COSMIC |
| 5 | g.37036442G= | CA1539609430 | NIPBL | c.5926G= (p.Asp1976=) c.1-28136G= (n.1-28136G=) c.5182G= (p.Asp1728=) c.5728G= (p.Asp1910=) c.5545G= (p.Asp1849=) c.5266G= (p.Asp1756=) c.4309G= (p.Asp1437=) c.4300G= (p.Asp1434=) | |
| 5 | g.37036442G>T | CA359496593 | NIPBL | c.5926G>T (p.Asp1976Tyr) c.1-28136G>T (n.1-28136G>T) c.5182G>T (p.Asp1728Tyr) c.5728G>T (p.Asp1910Tyr) c.5545G>T (p.Asp1849Tyr) c.5266G>T (p.Asp1756Tyr) c.4309G>T (p.Asp1437Tyr) c.4300G>T (p.Asp1434Tyr) | dbSNP gnomAD v4 |
| 5 | g.37036443A>C | CA359496594 | NIPBL | c.5927A>C (p.Asp1976Ala) c.1-28135A>C (n.1-28135A>C) c.5183A>C (p.Asp1728Ala) c.5729A>C (p.Asp1910Ala) c.5546A>C (p.Asp1849Ala) c.5267A>C (p.Asp1756Ala) c.4310A>C (p.Asp1437Ala) c.4301A>C (p.Asp1434Ala) | |
| 5 | g.37036443A>G | CA359496595 | NIPBL | c.5927A>G (p.Asp1976Gly) c.1-28135A>G (n.1-28135A>G) c.5183A>G (p.Asp1728Gly) c.5729A>G (p.Asp1910Gly) c.5546A>G (p.Asp1849Gly) c.5267A>G (p.Asp1756Gly) c.4310A>G (p.Asp1437Gly) c.4301A>G (p.Asp1434Gly) | gnomAD v4 |
| 5 | g.37036443A>T | CA359496596 | NIPBL | c.5927A>T (p.Asp1976Val) c.1-28135A>T (n.1-28135A>T) c.5183A>T (p.Asp1728Val) c.5729A>T (p.Asp1910Val) c.5546A>T (p.Asp1849Val) c.5267A>T (p.Asp1756Val) c.4310A>T (p.Asp1437Val) c.4301A>T (p.Asp1434Val) | gnomAD v4 |
| 5 | g.37036444T>A | CA359496600 | NIPBL | c.5928T>A (p.Asp1976Glu) c.1-28134T>A (n.1-28134T>A) c.5184T>A (p.Asp1728Glu) c.5730T>A (p.Asp1910Glu) c.5547T>A (p.Asp1849Glu) c.5268T>A (p.Asp1756Glu) c.4311T>A (p.Asp1437Glu) c.4302T>A (p.Asp1434Glu) | gnomAD v4 |
| 5 | g.37036444T>C | CA443905740 | NIPBL | c.5928T>C (p.Asp1976=) c.1-28134T>C (n.1-28134T>C) c.5184T>C (p.Asp1728=) c.5730T>C (p.Asp1910=) c.5547T>C (p.Asp1849=) c.5268T>C (p.Asp1756=) c.4311T>C (p.Asp1437=) c.4302T>C (p.Asp1434=) | gnomAD v4 |
| 5 | g.37036444T>G | CA359496603 | NIPBL | c.5928T>G (p.Asp1976Glu) c.1-28134T>G (n.1-28134T>G) c.5184T>G (p.Asp1728Glu) c.5730T>G (p.Asp1910Glu) c.5547T>G (p.Asp1849Glu) c.5268T>G (p.Asp1756Glu) c.4311T>G (p.Asp1437Glu) c.4302T>G (p.Asp1434Glu) | |
| 5 | g.37036445A>C | CA359496605 | NIPBL | c.5929A>C (p.Asn1977His) c.1-28133A>C (n.1-28133A>C) c.5185A>C (p.Asn1729His) c.5731A>C (p.Asn1911His) c.5548A>C (p.Asn1850His) c.5269A>C (p.Asn1757His) c.4312A>C (p.Asn1438His) c.4303A>C (p.Asn1435His) | |
| 5 | g.37036445A>G | CA359496606 | NIPBL | c.5929A>G (p.Asn1977Asp) c.1-28133A>G (n.1-28133A>G) c.5185A>G (p.Asn1729Asp) c.5731A>G (p.Asn1911Asp) c.5548A>G (p.Asn1850Asp) c.5269A>G (p.Asn1757Asp) c.4312A>G (p.Asn1438Asp) c.4303A>G (p.Asn1435Asp) | gnomAD v4 |
| 5 | g.37036445A>T | CA359496604 | NIPBL | c.5929A>T (p.Asn1977Tyr) c.1-28133A>T (n.1-28133A>T) c.5185A>T (p.Asn1729Tyr) c.5731A>T (p.Asn1911Tyr) c.5548A>T (p.Asn1850Tyr) c.5269A>T (p.Asn1757Tyr) c.4312A>T (p.Asn1438Tyr) c.4303A>T (p.Asn1435Tyr) | gnomAD v4 |
| 5 | g.37036446del | CA2673576981 | NIPBL | c.5930del (p.Asn1977ThrfsTer2) c.1-28132del (n.1-28132del) c.5186del (p.Asn1729ThrfsTer2) c.5732del (p.Asn1911ThrfsTer2) c.5549del (p.Asn1850ThrfsTer2) c.5270del (p.Asn1757ThrfsTer2) c.4313del (p.Asn1438ThrfsTer2) c.4304del (p.Asn1435ThrfsTer2) | gnomAD v4 |
| 5 | g.37036446A>C | CA359496609 | NIPBL | c.5930A>C (p.Asn1977Thr) c.1-28132A>C (n.1-28132A>C) c.5186A>C (p.Asn1729Thr) c.5732A>C (p.Asn1911Thr) c.5549A>C (p.Asn1850Thr) c.5270A>C (p.Asn1757Thr) c.4313A>C (p.Asn1438Thr) c.4304A>C (p.Asn1435Thr) | |
| 5 | g.37036446A>G | CA359496607 | NIPBL | c.5930A>G (p.Asn1977Ser) c.1-28132A>G (n.1-28132A>G) c.5186A>G (p.Asn1729Ser) c.5732A>G (p.Asn1911Ser) c.5549A>G (p.Asn1850Ser) c.5270A>G (p.Asn1757Ser) c.4313A>G (p.Asn1438Ser) c.4304A>G (p.Asn1435Ser) | gnomAD v4 |
| 5 | g.37036446A>T | CA359496611 | NIPBL | c.5930A>T (p.Asn1977Ile) c.1-28132A>T (n.1-28132A>T) c.5186A>T (p.Asn1729Ile) c.5732A>T (p.Asn1911Ile) c.5549A>T (p.Asn1850Ile) c.5270A>T (p.Asn1757Ile) c.4313A>T (p.Asn1438Ile) c.4304A>T (p.Asn1435Ile) | gnomAD v4 |
| 5 | g.37036447C>A | CA359496616 | NIPBL | c.5931C>A (p.Asn1977Lys) c.1-28131C>A (n.1-28131C>A) c.5187C>A (p.Asn1729Lys) c.5733C>A (p.Asn1911Lys) c.5550C>A (p.Asn1850Lys) c.5271C>A (p.Asn1757Lys) c.4314C>A (p.Asn1438Lys) c.4305C>A (p.Asn1435Lys) | gnomAD v4 |
| 5 | g.37036447C= | CA1539609432 | NIPBL | c.5931C= (p.Asn1977=) c.1-28131C= (n.1-28131C=) c.5187C= (p.Asn1729=) c.5733C= (p.Asn1911=) c.5550C= (p.Asn1850=) c.5271C= (p.Asn1757=) c.4314C= (p.Asn1438=) c.4305C= (p.Asn1435=) | |
| 5 | g.37036447C>G | CA359496624 | NIPBL | c.5931C>G (p.Asn1977Lys) c.1-28131C>G (n.1-28131C>G) c.5187C>G (p.Asn1729Lys) c.5733C>G (p.Asn1911Lys) c.5550C>G (p.Asn1850Lys) c.5271C>G (p.Asn1757Lys) c.4314C>G (p.Asn1438Lys) c.4305C>G (p.Asn1435Lys) | gnomAD v4 |
| 5 | g.37036447C>T | CA117036939 | NIPBL | c.5931C>T (p.Asn1977=) c.1-28131C>T (n.1-28131C>T) c.5187C>T (p.Asn1729=) c.5733C>T (p.Asn1911=) c.5550C>T (p.Asn1850=) c.5271C>T (p.Asn1757=) c.4314C>T (p.Asn1438=) c.4305C>T (p.Asn1435=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37036448C>A | CA359496630 | NIPBL | c.5932C>A (p.Leu1978Ile) c.1-28130C>A (n.1-28130C>A) c.5188C>A (p.Leu1730Ile) c.5734C>A (p.Leu1912Ile) c.5551C>A (p.Leu1851Ile) c.5272C>A (p.Leu1758Ile) c.4315C>A (p.Leu1439Ile) c.4306C>A (p.Leu1436Ile) | gnomAD v4 |
| 5 | g.37036448C= | CA1539609435 | NIPBL | c.5932C= (p.Leu1978=) c.1-28130C= (n.1-28130C=) c.5188C= (p.Leu1730=) c.5734C= (p.Leu1912=) c.5551C= (p.Leu1851=) c.5272C= (p.Leu1758=) c.4315C= (p.Leu1439=) c.4306C= (p.Leu1436=) | |
| 5 | g.37036448C>G | CA359496634 | NIPBL | c.5932C>G (p.Leu1978Val) c.1-28130C>G (n.1-28130C>G) c.5188C>G (p.Leu1730Val) c.5734C>G (p.Leu1912Val) c.5551C>G (p.Leu1851Val) c.5272C>G (p.Leu1758Val) c.4315C>G (p.Leu1439Val) c.4306C>G (p.Leu1436Val) | |
| 5 | g.37036448C>T | CA443905741 | NIPBL | c.5932C>T (p.Leu1978=) c.1-28130C>T (n.1-28130C>T) c.5188C>T (p.Leu1730=) c.5734C>T (p.Leu1912=) c.5551C>T (p.Leu1851=) c.5272C>T (p.Leu1758=) c.4315C>T (p.Leu1439=) c.4306C>T (p.Leu1436=) | dbSNP gnomAD v4 |
| 5 | g.37036449T>A | CA359496654 | NIPBL | c.5933T>A (p.Leu1978Gln) c.1-28129T>A (n.1-28129T>A) c.5189T>A (p.Leu1730Gln) c.5735T>A (p.Leu1912Gln) c.5552T>A (p.Leu1851Gln) c.5273T>A (p.Leu1758Gln) c.4316T>A (p.Leu1439Gln) c.4307T>A (p.Leu1436Gln) | gnomAD v4 |
| 5 | g.37036449T>C | CA359496657 | NIPBL | c.5933T>C (p.Leu1978Pro) c.1-28129T>C (n.1-28129T>C) c.5189T>C (p.Leu1730Pro) c.5735T>C (p.Leu1912Pro) c.5552T>C (p.Leu1851Pro) c.5273T>C (p.Leu1758Pro) c.4316T>C (p.Leu1439Pro) c.4307T>C (p.Leu1436Pro) | gnomAD v4 |
| 5 | g.37036449T>G | CA359496661 | NIPBL | c.5933T>G (p.Leu1978Arg) c.1-28129T>G (n.1-28129T>G) c.5189T>G (p.Leu1730Arg) c.5735T>G (p.Leu1912Arg) c.5552T>G (p.Leu1851Arg) c.5273T>G (p.Leu1758Arg) c.4316T>G (p.Leu1439Arg) c.4307T>G (p.Leu1436Arg) | |
| 5 | g.37036450A= | CA1539609438 | NIPBL | c.5934A= (p.Leu1978=) c.1-28128A= (n.1-28128A=) c.5190A= (p.Leu1730=) c.5736A= (p.Leu1912=) c.5553A= (p.Leu1851=) c.5274A= (p.Leu1758=) c.4317A= (p.Leu1439=) c.4308A= (p.Leu1436=) | |
| 5 | g.37036450A>C | CA443905742 | NIPBL | c.5934A>C (p.Leu1978=) c.1-28128A>C (n.1-28128A>C) c.5190A>C (p.Leu1730=) c.5736A>C (p.Leu1912=) c.5553A>C (p.Leu1851=) c.5274A>C (p.Leu1758=) c.4317A>C (p.Leu1439=) c.4308A>C (p.Leu1436=) | |
| 5 | g.37036450A>G | CA443905743 | NIPBL | c.5934A>G (p.Leu1978=) c.1-28128A>G (n.1-28128A>G) c.5190A>G (p.Leu1730=) c.5736A>G (p.Leu1912=) c.5553A>G (p.Leu1851=) c.5274A>G (p.Leu1758=) c.4317A>G (p.Leu1439=) c.4308A>G (p.Leu1436=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37036450A>T | CA443905744 | NIPBL | c.5934A>T (p.Leu1978=) c.1-28128A>T (n.1-28128A>T) c.5190A>T (p.Leu1730=) c.5736A>T (p.Leu1912=) c.5553A>T (p.Leu1851=) c.5274A>T (p.Leu1758=) c.4317A>T (p.Leu1439=) c.4308A>T (p.Leu1436=) | |
| 5 | g.37036451G>A | CA359496662 | NIPBL | c.5935G>A (p.Val1979Ile) c.1-28127G>A (n.1-28127G>A) c.5191G>A (p.Val1731Ile) c.5737G>A (p.Val1913Ile) c.5554G>A (p.Val1852Ile) c.5275G>A (p.Val1759Ile) c.4318G>A (p.Val1440Ile) c.4309G>A (p.Val1437Ile) | gnomAD v4 |
| 5 | g.37036451G>C | CA359496663 | NIPBL | c.5935G>C (p.Val1979Leu) c.1-28127G>C (n.1-28127G>C) c.5191G>C (p.Val1731Leu) c.5737G>C (p.Val1913Leu) c.5554G>C (p.Val1852Leu) c.5275G>C (p.Val1759Leu) c.4318G>C (p.Val1440Leu) c.4309G>C (p.Val1437Leu) | gnomAD v4 |
| 5 | g.37036451G>T | CA359496664 | NIPBL | c.5935G>T (p.Val1979Phe) c.1-28127G>T (n.1-28127G>T) c.5191G>T (p.Val1731Phe) c.5737G>T (p.Val1913Phe) c.5554G>T (p.Val1852Phe) c.5275G>T (p.Val1759Phe) c.4318G>T (p.Val1440Phe) c.4309G>T (p.Val1437Phe) | gnomAD v4 |
| 5 | g.37036452T>A | CA359496665 | NIPBL | c.5936T>A (p.Val1979Asp) c.1-28126T>A (n.1-28126T>A) c.5192T>A (p.Val1731Asp) c.5738T>A (p.Val1913Asp) c.5555T>A (p.Val1852Asp) c.5276T>A (p.Val1759Asp) c.4319T>A (p.Val1440Asp) c.4310T>A (p.Val1437Asp) | gnomAD v4 |
| 5 | g.37036452T>C | CA359496666 | NIPBL | c.5936T>C (p.Val1979Ala) c.1-28126T>C (n.1-28126T>C) c.5192T>C (p.Val1731Ala) c.5738T>C (p.Val1913Ala) c.5555T>C (p.Val1852Ala) c.5276T>C (p.Val1759Ala) c.4319T>C (p.Val1440Ala) c.4310T>C (p.Val1437Ala) | gnomAD v4 |
| 5 | g.37036452T>G | CA359496667 | NIPBL | c.5936T>G (p.Val1979Gly) c.1-28126T>G (n.1-28126T>G) c.5192T>G (p.Val1731Gly) c.5738T>G (p.Val1913Gly) c.5555T>G (p.Val1852Gly) c.5276T>G (p.Val1759Gly) c.4319T>G (p.Val1440Gly) c.4310T>G (p.Val1437Gly) | ClinVar dbSNP |
| 5 | g.37036453T>A | CA443905745 | NIPBL | c.5937T>A (p.Val1979=) c.1-28125T>A (n.1-28125T>A) c.5193T>A (p.Val1731=) c.5739T>A (p.Val1913=) c.5556T>A (p.Val1852=) c.5277T>A (p.Val1759=) c.4320T>A (p.Val1440=) c.4311T>A (p.Val1437=) | gnomAD v4 |
| 5 | g.37036453T>C | CA443905746 | NIPBL | c.5937T>C (p.Val1979=) c.1-28125T>C (n.1-28125T>C) c.5193T>C (p.Val1731=) c.5739T>C (p.Val1913=) c.5556T>C (p.Val1852=) c.5277T>C (p.Val1759=) c.4320T>C (p.Val1440=) c.4311T>C (p.Val1437=) | gnomAD v4 |
| 5 | g.37036453T>G | CA443905747 | NIPBL | c.5937T>G (p.Val1979=) c.1-28125T>G (n.1-28125T>G) c.5193T>G (p.Val1731=) c.5739T>G (p.Val1913=) c.5556T>G (p.Val1852=) c.5277T>G (p.Val1759=) c.4320T>G (p.Val1440=) c.4311T>G (p.Val1437=) | gnomAD v4 |