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.36995771G>A | CA359514113 | NIPBL | c.3271G>A (p.Asp1091Asn) n.622G>A n.2891G>A n.22G>A c.1-68807G>A (n.1-68807G>A) c.2527G>A (p.Asp843Asn) c.3122-5046G>A (n.3122-5046G>A) c.2611G>A (p.Asp871Asn) c.1654G>A (p.Asp552Asn) c.1645G>A (p.Asp549Asn) | |
| 5 | g.36995771G>C | CA359514114 | NIPBL | c.3271G>C (p.Asp1091His) n.622G>C n.2891G>C n.22G>C c.1-68807G>C (n.1-68807G>C) c.2527G>C (p.Asp843His) c.3122-5046G>C (n.3122-5046G>C) c.2611G>C (p.Asp871His) c.1654G>C (p.Asp552His) c.1645G>C (p.Asp549His) | |
| 5 | g.36995771G>T | CA359514115 | NIPBL | c.3271G>T (p.Asp1091Tyr) n.622G>T n.2891G>T n.22G>T c.1-68807G>T (n.1-68807G>T) c.2527G>T (p.Asp843Tyr) c.3122-5046G>T (n.3122-5046G>T) c.2611G>T (p.Asp871Tyr) c.1654G>T (p.Asp552Tyr) c.1645G>T (p.Asp549Tyr) | |
| 5 | g.36995772A>C | CA359514124 | NIPBL | c.3272A>C (p.Asp1091Ala) n.623A>C n.2892A>C n.23A>C c.1-68806A>C (n.1-68806A>C) c.2528A>C (p.Asp843Ala) c.3122-5045A>C (n.3122-5045A>C) c.2612A>C (p.Asp871Ala) c.1655A>C (p.Asp552Ala) c.1646A>C (p.Asp549Ala) | |
| 5 | g.36995772A>G | CA359514126 | NIPBL | c.3272A>G (p.Asp1091Gly) n.623A>G n.2892A>G n.23A>G c.1-68806A>G (n.1-68806A>G) c.2528A>G (p.Asp843Gly) c.3122-5045A>G (n.3122-5045A>G) c.2612A>G (p.Asp871Gly) c.1655A>G (p.Asp552Gly) c.1646A>G (p.Asp549Gly) | gnomAD v4 |
| 5 | g.36995772A>T | CA359514129 | NIPBL | c.3272A>T (p.Asp1091Val) n.623A>T n.2892A>T n.23A>T c.1-68806A>T (n.1-68806A>T) c.2528A>T (p.Asp843Val) c.3122-5045A>T (n.3122-5045A>T) c.2612A>T (p.Asp871Val) c.1655A>T (p.Asp552Val) c.1646A>T (p.Asp549Val) | |
| 5 | g.36995773T>A | CA359514133 | NIPBL | c.3273T>A (p.Asp1091Glu) n.624T>A n.2893T>A n.24T>A c.1-68805T>A (n.1-68805T>A) c.2529T>A (p.Asp843Glu) c.3122-5044T>A (n.3122-5044T>A) c.2613T>A (p.Asp871Glu) c.1656T>A (p.Asp552Glu) c.1647T>A (p.Asp549Glu) | |
| 5 | g.36995773T>C | CA443903959 | NIPBL | c.3273T>C (p.Asp1091=) n.624T>C n.2893T>C n.24T>C c.1-68805T>C (n.1-68805T>C) c.2529T>C (p.Asp843=) c.3122-5044T>C (n.3122-5044T>C) c.2613T>C (p.Asp871=) c.1656T>C (p.Asp552=) c.1647T>C (p.Asp549=) | |
| 5 | g.36995773T>G | CA359514134 | NIPBL | c.3273T>G (p.Asp1091Glu) n.624T>G n.2893T>G n.24T>G c.1-68805T>G (n.1-68805T>G) c.2529T>G (p.Asp843Glu) c.3122-5044T>G (n.3122-5044T>G) c.2613T>G (p.Asp871Glu) c.1656T>G (p.Asp552Glu) c.1647T>G (p.Asp549Glu) | |
| 5 | g.36995774G>A | CA359514135 | NIPBL | c.3274G>A (p.Glu1092Lys) n.625G>A n.2894G>A n.25G>A c.1-68804G>A (n.1-68804G>A) c.2530G>A (p.Glu844Lys) c.3122-5043G>A (n.3122-5043G>A) c.2614G>A (p.Glu872Lys) c.1657G>A (p.Glu553Lys) c.1648G>A (p.Glu550Lys) | |
| 5 | g.36995774G>C | CA359514136 | NIPBL | c.3274G>C (p.Glu1092Gln) n.625G>C n.2894G>C n.25G>C c.1-68804G>C (n.1-68804G>C) c.2530G>C (p.Glu844Gln) c.3122-5043G>C (n.3122-5043G>C) c.2614G>C (p.Glu872Gln) c.1657G>C (p.Glu553Gln) c.1648G>C (p.Glu550Gln) | |
| 5 | g.36995774G>T | CA359514138 | NIPBL | c.3274G>T (p.Glu1092Ter) n.625G>T n.2894G>T n.25G>T c.1-68804G>T (n.1-68804G>T) c.2530G>T (p.Glu844Ter) c.3122-5043G>T (n.3122-5043G>T) c.2614G>T (p.Glu872Ter) c.1657G>T (p.Glu553Ter) c.1648G>T (p.Glu550Ter) | |
| 5 | g.36995775A>C | CA359514151 | NIPBL | c.3275A>C (p.Glu1092Ala) n.626A>C n.2895A>C n.26A>C c.1-68803A>C (n.1-68803A>C) c.2531A>C (p.Glu844Ala) c.3122-5042A>C (n.3122-5042A>C) c.2615A>C (p.Glu872Ala) c.1658A>C (p.Glu553Ala) c.1649A>C (p.Glu550Ala) | |
| 5 | g.36995775A>G | CA359514154 | NIPBL | c.3275A>G (p.Glu1092Gly) n.626A>G n.2895A>G n.26A>G c.1-68803A>G (n.1-68803A>G) c.2531A>G (p.Glu844Gly) c.3122-5042A>G (n.3122-5042A>G) c.2615A>G (p.Glu872Gly) c.1658A>G (p.Glu553Gly) c.1649A>G (p.Glu550Gly) | |
| 5 | g.36995775A>T | CA359514156 | NIPBL | c.3275A>T (p.Glu1092Val) n.626A>T n.2895A>T n.26A>T c.1-68803A>T (n.1-68803A>T) c.2531A>T (p.Glu844Val) c.3122-5042A>T (n.3122-5042A>T) c.2615A>T (p.Glu872Val) c.1658A>T (p.Glu553Val) c.1649A>T (p.Glu550Val) | |
| 5 | g.36995776A>C | CA359514159 | NIPBL | c.3276A>C (p.Glu1092Asp) n.627A>C n.2896A>C n.27A>C c.1-68802A>C (n.1-68802A>C) c.2532A>C (p.Glu844Asp) c.3122-5041A>C (n.3122-5041A>C) c.2616A>C (p.Glu872Asp) c.1659A>C (p.Glu553Asp) c.1650A>C (p.Glu550Asp) | |
| 5 | g.36995776A>G | CA443903960 | NIPBL | c.3276A>G (p.Glu1092=) n.627A>G n.2896A>G n.27A>G c.1-68802A>G (n.1-68802A>G) c.2532A>G (p.Glu844=) c.3122-5041A>G (n.3122-5041A>G) c.2616A>G (p.Glu872=) c.1659A>G (p.Glu553=) c.1650A>G (p.Glu550=) | |
| 5 | g.36995776A>T | CA359514160 | NIPBL | c.3276A>T (p.Glu1092Asp) n.627A>T n.2896A>T n.27A>T c.1-68802A>T (n.1-68802A>T) c.2532A>T (p.Glu844Asp) c.3122-5041A>T (n.3122-5041A>T) c.2616A>T (p.Glu872Asp) c.1659A>T (p.Glu553Asp) c.1650A>T (p.Glu550Asp) | |
| 5 | g.36995776_36995782delinsAGATAAT | CA1539592922 | NIPBL | c.3276_3282delinsAGATAAT (p.Glu1092=) n.627_633delinsAGATAAT n.2896_2902delinsAGATAAT n.27_33delinsAGATAAT c.1-68802_1-68796delinsAGATAAT (n.1-68802_1-68796delinsAGATAAT) c.2532_2538delinsAGATAAT (p.Glu844=) c.3122-5041_3122-5035delinsAGATAAT (n.3122-5041_3122-5035delinsAGATAAT) c.2616_2622delinsAGATAAT (p.Glu872=) c.1659_1665delinsAGATAAT (p.Glu553=) c.1650_1656delinsAGATAAT (p.Glu550=) | |
| 5 | g.36995777G>A | CA359514161 | NIPBL | c.3277G>A (p.Asp1093Asn) n.628G>A n.2897G>A n.28G>A c.1-68801G>A (n.1-68801G>A) c.2533G>A (p.Asp845Asn) c.3122-5040G>A (n.3122-5040G>A) c.2617G>A (p.Asp873Asn) c.1660G>A (p.Asp554Asn) c.1651G>A (p.Asp551Asn) | |
| 5 | g.36995777G>C | CA359514163 | NIPBL | c.3277G>C (p.Asp1093His) n.628G>C n.2897G>C n.28G>C c.1-68801G>C (n.1-68801G>C) c.2533G>C (p.Asp845His) c.3122-5040G>C (n.3122-5040G>C) c.2617G>C (p.Asp873His) c.1660G>C (p.Asp554His) c.1651G>C (p.Asp551His) | |
| 5 | g.36995777G>T | CA359514164 | NIPBL | c.3277G>T (p.Asp1093Tyr) n.628G>T n.2897G>T n.28G>T c.1-68801G>T (n.1-68801G>T) c.2533G>T (p.Asp845Tyr) c.3122-5040G>T (n.3122-5040G>T) c.2617G>T (p.Asp873Tyr) c.1660G>T (p.Asp554Tyr) c.1651G>T (p.Asp551Tyr) | |
| 5 | g.36995777_36995780delinsGATA | CA1539592930 | NIPBL | c.3277_3280delinsGATA (p.Asp1093=) n.628_631delinsGATA n.2897_2900delinsGATA n.28_31delinsGATA c.1-68801_1-68798delinsGATA (n.1-68801_1-68798delinsGATA) c.2533_2536delinsGATA (p.Asp845=) c.3122-5040_3122-5037delinsGATA (n.3122-5040_3122-5037delinsGATA) c.2617_2620delinsGATA (p.Asp873=) c.1660_1663delinsGATA (p.Asp554=) c.1651_1654delinsGATA (p.Asp551=) | |
| 5 | g.36995781_36995786del | CA559295112 | NIPBL | c.3281_3286del (p.Asn1094_Asp1095del) n.632_637del n.2901_2906del n.32_37del c.1-68797_1-68792del (n.1-68797_1-68792del) c.2537_2542del (p.Asn846_Asp847del) c.3122-5036_3122-5031del (n.3122-5036_3122-5031del) c.2621_2626del (p.Asn874_Asp875del) c.1664_1669del (p.Asn555_Asp556del) c.1655_1660del (p.Asn552_Asp553del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36995778A>C | CA359514180 | NIPBL | c.3278A>C (p.Asp1093Ala) n.629A>C n.2898A>C n.29A>C c.1-68800A>C (n.1-68800A>C) c.2534A>C (p.Asp845Ala) c.3122-5039A>C (n.3122-5039A>C) c.2618A>C (p.Asp873Ala) c.1661A>C (p.Asp554Ala) c.1652A>C (p.Asp551Ala) | gnomAD v4 |
| 5 | g.36995778A>G | CA359514173 | NIPBL | c.3278A>G (p.Asp1093Gly) n.629A>G n.2898A>G n.29A>G c.1-68800A>G (n.1-68800A>G) c.2534A>G (p.Asp845Gly) c.3122-5039A>G (n.3122-5039A>G) c.2618A>G (p.Asp873Gly) c.1661A>G (p.Asp554Gly) c.1652A>G (p.Asp551Gly) | |
| 5 | g.36995778A>T | CA359514166 | NIPBL | c.3278A>T (p.Asp1093Val) n.629A>T n.2898A>T n.29A>T c.1-68800A>T (n.1-68800A>T) c.2534A>T (p.Asp845Val) c.3122-5039A>T (n.3122-5039A>T) c.2618A>T (p.Asp873Val) c.1661A>T (p.Asp554Val) c.1652A>T (p.Asp551Val) | gnomAD v4 |
| 5 | g.36995780_36995782del | CA1539592936 | NIPBL | c.3280_3282del (p.Asn1094del) n.631_633del n.2900_2902del n.31_33del c.1-68798_1-68796del (n.1-68798_1-68796del) c.2536_2538del (p.Asn846del) c.3122-5037_3122-5035del (n.3122-5037_3122-5035del) c.2620_2622del (p.Asn874del) c.1663_1665del (p.Asn555del) c.1654_1656del (p.Asn552del) | dbSNP |
| 5 | g.36995779T>A | CA359514188 | NIPBL | c.3279T>A (p.Asp1093Glu) n.630T>A n.2899T>A n.30T>A c.1-68799T>A (n.1-68799T>A) c.2535T>A (p.Asp845Glu) c.3122-5038T>A (n.3122-5038T>A) c.2619T>A (p.Asp873Glu) c.1662T>A (p.Asp554Glu) c.1653T>A (p.Asp551Glu) | |
| 5 | g.36995779T>C | CA443903961 | NIPBL | c.3279T>C (p.Asp1093=) n.630T>C n.2899T>C n.30T>C c.1-68799T>C (n.1-68799T>C) c.2535T>C (p.Asp845=) c.3122-5038T>C (n.3122-5038T>C) c.2619T>C (p.Asp873=) c.1662T>C (p.Asp554=) c.1653T>C (p.Asp551=) | gnomAD v4 |
| 5 | g.36995779T>G | CA359514195 | NIPBL | c.3279T>G (p.Asp1093Glu) n.630T>G n.2899T>G n.30T>G c.1-68799T>G (n.1-68799T>G) c.2535T>G (p.Asp845Glu) c.3122-5038T>G (n.3122-5038T>G) c.2619T>G (p.Asp873Glu) c.1662T>G (p.Asp554Glu) c.1653T>G (p.Asp551Glu) | |
| 5 | g.36995780A>C | CA359514206 | NIPBL | c.3280A>C (p.Asn1094His) n.631A>C n.2900A>C n.31A>C c.1-68798A>C (n.1-68798A>C) c.2536A>C (p.Asn846His) c.3122-5037A>C (n.3122-5037A>C) c.2620A>C (p.Asn874His) c.1663A>C (p.Asn555His) c.1654A>C (p.Asn552His) | |
| 5 | g.36995780A>G | CA359514212 | NIPBL | c.3280A>G (p.Asn1094Asp) n.631A>G n.2900A>G n.31A>G c.1-68798A>G (n.1-68798A>G) c.2536A>G (p.Asn846Asp) c.3122-5037A>G (n.3122-5037A>G) c.2620A>G (p.Asn874Asp) c.1663A>G (p.Asn555Asp) c.1654A>G (p.Asn552Asp) | |
| 5 | g.36995780A>T | CA359514214 | NIPBL | c.3280A>T (p.Asn1094Tyr) n.631A>T n.2900A>T n.31A>T c.1-68798A>T (n.1-68798A>T) c.2536A>T (p.Asn846Tyr) c.3122-5037A>T (n.3122-5037A>T) c.2620A>T (p.Asn874Tyr) c.1663A>T (p.Asn555Tyr) c.1654A>T (p.Asn552Tyr) | |
| 5 | g.36995781A>C | CA359514218 | NIPBL | c.3281A>C (p.Asn1094Thr) n.632A>C n.2901A>C n.32A>C c.1-68797A>C (n.1-68797A>C) c.2537A>C (p.Asn846Thr) c.3122-5036A>C (n.3122-5036A>C) c.2621A>C (p.Asn874Thr) c.1664A>C (p.Asn555Thr) c.1655A>C (p.Asn552Thr) | |
| 5 | g.36995781A>G | CA359514220 | NIPBL | c.3281A>G (p.Asn1094Ser) n.632A>G n.2901A>G n.32A>G c.1-68797A>G (n.1-68797A>G) c.2537A>G (p.Asn846Ser) c.3122-5036A>G (n.3122-5036A>G) c.2621A>G (p.Asn874Ser) c.1664A>G (p.Asn555Ser) c.1655A>G (p.Asn552Ser) | |
| 5 | g.36995781A>T | CA359514227 | NIPBL | c.3281A>T (p.Asn1094Ile) n.632A>T n.2901A>T n.32A>T c.1-68797A>T (n.1-68797A>T) c.2537A>T (p.Asn846Ile) c.3122-5036A>T (n.3122-5036A>T) c.2621A>T (p.Asn874Ile) c.1664A>T (p.Asn555Ile) c.1655A>T (p.Asn552Ile) | |
| 5 | g.36995782T>A | CA359514231 | NIPBL | c.3282T>A (p.Asn1094Lys) n.633T>A n.2902T>A n.33T>A c.1-68796T>A (n.1-68796T>A) c.2538T>A (p.Asn846Lys) c.3122-5035T>A (n.3122-5035T>A) c.2622T>A (p.Asn874Lys) c.1665T>A (p.Asn555Lys) c.1656T>A (p.Asn552Lys) | gnomAD v4 |
| 5 | g.36995782T>C | CA443903962 | NIPBL | c.3282T>C (p.Asn1094=) n.633T>C n.2902T>C n.33T>C c.1-68796T>C (n.1-68796T>C) c.2538T>C (p.Asn846=) c.3122-5035T>C (n.3122-5035T>C) c.2622T>C (p.Asn874=) c.1665T>C (p.Asn555=) c.1656T>C (p.Asn552=) | dbSNP |
| 5 | g.36995782T>G | CA359514243 | NIPBL | c.3282T>G (p.Asn1094Lys) n.633T>G n.2902T>G n.33T>G c.1-68796T>G (n.1-68796T>G) c.2538T>G (p.Asn846Lys) c.3122-5035T>G (n.3122-5035T>G) c.2622T>G (p.Asn874Lys) c.1665T>G (p.Asn555Lys) c.1656T>G (p.Asn552Lys) | |
| 5 | g.36995782T= | CA1539592942 | NIPBL | c.3282T= (p.Asn1094=) n.633T= n.2902T= n.33T= c.1-68796T= (n.1-68796T=) c.2538T= (p.Asn846=) c.3122-5035T= (n.3122-5035T=) c.2622T= (p.Asn874=) c.1665T= (p.Asn555=) c.1656T= (p.Asn552=) | |
| 5 | g.36995783G>A | CA359514260 | NIPBL | c.3283G>A (p.Asp1095Asn) n.634G>A n.2903G>A n.34G>A c.1-68795G>A (n.1-68795G>A) c.2539G>A (p.Asp847Asn) c.3122-5034G>A (n.3122-5034G>A) c.2623G>A (p.Asp875Asn) c.1666G>A (p.Asp556Asn) c.1657G>A (p.Asp553Asn) | gnomAD v4 |
| 5 | g.36995783G>C | CA359514262 | NIPBL | c.3283G>C (p.Asp1095His) n.634G>C n.2903G>C n.34G>C c.1-68795G>C (n.1-68795G>C) c.2539G>C (p.Asp847His) c.3122-5034G>C (n.3122-5034G>C) c.2623G>C (p.Asp875His) c.1666G>C (p.Asp556His) c.1657G>C (p.Asp553His) | |
| 5 | g.36995783G>T | CA359514263 | NIPBL | c.3283G>T (p.Asp1095Tyr) n.634G>T n.2903G>T n.34G>T c.1-68795G>T (n.1-68795G>T) c.2539G>T (p.Asp847Tyr) c.3122-5034G>T (n.3122-5034G>T) c.2623G>T (p.Asp875Tyr) c.1666G>T (p.Asp556Tyr) c.1657G>T (p.Asp553Tyr) | |
| 5 | g.36995784A= | CA1539592945 | NIPBL | c.3284A= (p.Asp1095=) n.635A= n.2904A= n.35A= c.1-68794A= (n.1-68794A=) c.2540A= (p.Asp847=) c.3122-5033A= (n.3122-5033A=) c.2624A= (p.Asp875=) c.1667A= (p.Asp556=) c.1658A= (p.Asp553=) | |
| 5 | g.36995784A>C | CA359514269 | NIPBL | c.3284A>C (p.Asp1095Ala) n.635A>C n.2904A>C n.35A>C c.1-68794A>C (n.1-68794A>C) c.2540A>C (p.Asp847Ala) c.3122-5033A>C (n.3122-5033A>C) c.2624A>C (p.Asp875Ala) c.1667A>C (p.Asp556Ala) c.1658A>C (p.Asp553Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.36995784A>G | CA359514271 | NIPBL | c.3284A>G (p.Asp1095Gly) n.635A>G n.2904A>G n.35A>G c.1-68794A>G (n.1-68794A>G) c.2540A>G (p.Asp847Gly) c.3122-5033A>G (n.3122-5033A>G) c.2624A>G (p.Asp875Gly) c.1667A>G (p.Asp556Gly) c.1658A>G (p.Asp553Gly) | gnomAD v4 |
| 5 | g.36995784A>T | CA359514267 | NIPBL | c.3284A>T (p.Asp1095Val) n.635A>T n.2904A>T n.35A>T c.1-68794A>T (n.1-68794A>T) c.2540A>T (p.Asp847Val) c.3122-5033A>T (n.3122-5033A>T) c.2624A>T (p.Asp875Val) c.1667A>T (p.Asp556Val) c.1658A>T (p.Asp553Val) | |
| 5 | g.36995785T>A | CA359514273 | NIPBL | c.3285T>A (p.Asp1095Glu) n.636T>A n.2905T>A n.36T>A c.1-68793T>A (n.1-68793T>A) c.2541T>A (p.Asp847Glu) c.3122-5032T>A (n.3122-5032T>A) c.2625T>A (p.Asp875Glu) c.1668T>A (p.Asp556Glu) c.1659T>A (p.Asp553Glu) | |
| 5 | g.36995785T>C | CA443903963 | NIPBL | c.3285T>C (p.Asp1095=) n.636T>C n.2905T>C n.36T>C c.1-68793T>C (n.1-68793T>C) c.2541T>C (p.Asp847=) c.3122-5032T>C (n.3122-5032T>C) c.2625T>C (p.Asp875=) c.1668T>C (p.Asp556=) c.1659T>C (p.Asp553=) |