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.37003290_37003305delinsAAATATCTTGGAGAAG | CA1539603691 | NIPBL | c.3798_3813delinsAAATATCTTGGAGAAG (p.Leu1266=) c.1-61288_1-61273delinsAAATATCTTGGAGAAG (n.1-61288_1-61273delinsAAATATCTTGGAGAAG) c.3054_3069delinsAAATATCTTGGAGAAG (p.Leu1018=) c.3600_3615delinsAAATATCTTGGAGAAG (p.Leu1200=) c.3417_3432delinsAAATATCTTGGAGAAG (p.Leu1139=) c.3138_3153delinsAAATATCTTGGAGAAG (p.Leu1046=) c.2181_2196delinsAAATATCTTGGAGAAG (p.Leu727=) c.2172_2187delinsAAATATCTTGGAGAAG (p.Leu724=) | |
| 5 | g.37003296_37003310del | CA272075 | NIPBL | c.3804_3818del (p.Leu1269_Ile1273del) c.1-61282_1-61268del (n.1-61282_1-61268del) c.3060_3074del (p.Leu1021_Ile1025del) c.3606_3620del (p.Leu1203_Ile1207del) c.3423_3437del (p.Leu1142_Ile1146del) c.3144_3158del (p.Leu1049_Ile1053del) c.2187_2201del (p.Leu730_Ile734del) c.2178_2192del (p.Leu727_Ile731del) | ClinVar dbSNP |
| 5 | g.37003296C>A | CA443904766 | NIPBL | c.3804C>A (p.Ile1268=) c.1-61282C>A (n.1-61282C>A) c.3060C>A (p.Ile1020=) c.3606C>A (p.Ile1202=) c.3423C>A (p.Ile1141=) c.3144C>A (p.Ile1048=) c.2187C>A (p.Ile729=) c.2178C>A (p.Ile726=) | gnomAD v4 |
| 5 | g.37003296C>G | CA359521918 | NIPBL | c.3804C>G (p.Ile1268Met) c.1-61282C>G (n.1-61282C>G) c.3060C>G (p.Ile1020Met) c.3606C>G (p.Ile1202Met) c.3423C>G (p.Ile1141Met) c.3144C>G (p.Ile1048Met) c.2187C>G (p.Ile729Met) c.2178C>G (p.Ile726Met) | |
| 5 | g.37003296C>T | CA443904767 | NIPBL | c.3804C>T (p.Ile1268=) c.1-61282C>T (n.1-61282C>T) c.3060C>T (p.Ile1020=) c.3606C>T (p.Ile1202=) c.3423C>T (p.Ile1141=) c.3144C>T (p.Ile1048=) c.2187C>T (p.Ile729=) c.2178C>T (p.Ile726=) | |
| 5 | g.37003297T>A | CA359521925 | NIPBL | c.3805T>A (p.Leu1269Met) c.1-61281T>A (n.1-61281T>A) c.3061T>A (p.Leu1021Met) c.3607T>A (p.Leu1203Met) c.3424T>A (p.Leu1142Met) c.3145T>A (p.Leu1049Met) c.2188T>A (p.Leu730Met) c.2179T>A (p.Leu727Met) | |
| 5 | g.37003297T>C | CA443904768 | NIPBL | c.3805T>C (p.Leu1269=) c.1-61281T>C (n.1-61281T>C) c.3061T>C (p.Leu1021=) c.3607T>C (p.Leu1203=) c.3424T>C (p.Leu1142=) c.3145T>C (p.Leu1049=) c.2188T>C (p.Leu730=) c.2179T>C (p.Leu727=) | |
| 5 | g.37003297T>G | CA359521920 | NIPBL | c.3805T>G (p.Leu1269Val) c.1-61281T>G (n.1-61281T>G) c.3061T>G (p.Leu1021Val) c.3607T>G (p.Leu1203Val) c.3424T>G (p.Leu1142Val) c.3145T>G (p.Leu1049Val) c.2188T>G (p.Leu730Val) c.2179T>G (p.Leu727Val) | |
| 5 | g.37003298T>A | CA359521933 | NIPBL | c.3806T>A (p.Leu1269Ter) c.1-61280T>A (n.1-61280T>A) c.3062T>A (p.Leu1021Ter) c.3608T>A (p.Leu1203Ter) c.3425T>A (p.Leu1142Ter) c.3146T>A (p.Leu1049Ter) c.2189T>A (p.Leu730Ter) c.2180T>A (p.Leu727Ter) | |
| 5 | g.37003298T>C | CA359521932 | NIPBL | c.3806T>C (p.Leu1269Ser) c.1-61280T>C (n.1-61280T>C) c.3062T>C (p.Leu1021Ser) c.3608T>C (p.Leu1203Ser) c.3425T>C (p.Leu1142Ser) c.3146T>C (p.Leu1049Ser) c.2189T>C (p.Leu730Ser) c.2180T>C (p.Leu727Ser) | |
| 5 | g.37003298T>G | CA359521953 | NIPBL | c.3806T>G (p.Leu1269Trp) c.1-61280T>G (n.1-61280T>G) c.3062T>G (p.Leu1021Trp) c.3608T>G (p.Leu1203Trp) c.3425T>G (p.Leu1142Trp) c.3146T>G (p.Leu1049Trp) c.2189T>G (p.Leu730Trp) c.2180T>G (p.Leu727Trp) | |
| 5 | g.37003299G>A | CA443904769 | NIPBL | c.3807G>A (p.Leu1269=) c.1-61279G>A (n.1-61279G>A) c.3063G>A (p.Leu1021=) c.3609G>A (p.Leu1203=) c.3426G>A (p.Leu1142=) c.3147G>A (p.Leu1049=) c.2190G>A (p.Leu730=) c.2181G>A (p.Leu727=) | |
| 5 | g.37003299G>C | CA359521957 | NIPBL | c.3807G>C (p.Leu1269Phe) c.1-61279G>C (n.1-61279G>C) c.3063G>C (p.Leu1021Phe) c.3609G>C (p.Leu1203Phe) c.3426G>C (p.Leu1142Phe) c.3147G>C (p.Leu1049Phe) c.2190G>C (p.Leu730Phe) c.2181G>C (p.Leu727Phe) | |
| 5 | g.37003299G>T | CA359521961 | NIPBL | c.3807G>T (p.Leu1269Phe) c.1-61279G>T (n.1-61279G>T) c.3063G>T (p.Leu1021Phe) c.3609G>T (p.Leu1203Phe) c.3426G>T (p.Leu1142Phe) c.3147G>T (p.Leu1049Phe) c.2190G>T (p.Leu730Phe) c.2181G>T (p.Leu727Phe) | |
| 5 | g.37003300del | CA2673551130 | NIPBL | c.3808del (p.Glu1270ArgfsTer14) c.1-61278del (n.1-61278del) c.3064del (p.Glu1022ArgfsTer14) c.3610del (p.Glu1204ArgfsTer14) c.3427del (p.Glu1143ArgfsTer14) c.3148del (p.Glu1050ArgfsTer14) c.2191del (p.Glu731ArgfsTer14) c.2182del (p.Glu728ArgfsTer14) | gnomAD v4 |
| 5 | g.37003300G>A | CA359521963 | NIPBL | c.3808G>A (p.Glu1270Lys) c.1-61278G>A (n.1-61278G>A) c.3064G>A (p.Glu1022Lys) c.3610G>A (p.Glu1204Lys) c.3427G>A (p.Glu1143Lys) c.3148G>A (p.Glu1050Lys) c.2191G>A (p.Glu731Lys) c.2182G>A (p.Glu728Lys) | |
| 5 | g.37003300G>C | CA359521964 | NIPBL | c.3808G>C (p.Glu1270Gln) c.1-61278G>C (n.1-61278G>C) c.3064G>C (p.Glu1022Gln) c.3610G>C (p.Glu1204Gln) c.3427G>C (p.Glu1143Gln) c.3148G>C (p.Glu1050Gln) c.2191G>C (p.Glu731Gln) c.2182G>C (p.Glu728Gln) | |
| 5 | g.37003300G>T | CA359521966 | NIPBL | c.3808G>T (p.Glu1270Ter) c.1-61278G>T (n.1-61278G>T) c.3064G>T (p.Glu1022Ter) c.3610G>T (p.Glu1204Ter) c.3427G>T (p.Glu1143Ter) c.3148G>T (p.Glu1050Ter) c.2191G>T (p.Glu731Ter) c.2182G>T (p.Glu728Ter) | |
| 5 | g.37003301A>C | CA359521971 | NIPBL | c.3809A>C (p.Glu1270Ala) c.1-61277A>C (n.1-61277A>C) c.3065A>C (p.Glu1022Ala) c.3611A>C (p.Glu1204Ala) c.3428A>C (p.Glu1143Ala) c.3149A>C (p.Glu1050Ala) c.2192A>C (p.Glu731Ala) c.2183A>C (p.Glu728Ala) | |
| 5 | g.37003301A>G | CA359521973 | NIPBL | c.3809A>G (p.Glu1270Gly) c.1-61277A>G (n.1-61277A>G) c.3065A>G (p.Glu1022Gly) c.3611A>G (p.Glu1204Gly) c.3428A>G (p.Glu1143Gly) c.3149A>G (p.Glu1050Gly) c.2192A>G (p.Glu731Gly) c.2183A>G (p.Glu728Gly) | |
| 5 | g.37003301A>T | CA359521981 | NIPBL | c.3809A>T (p.Glu1270Val) c.1-61277A>T (n.1-61277A>T) c.3065A>T (p.Glu1022Val) c.3611A>T (p.Glu1204Val) c.3428A>T (p.Glu1143Val) c.3149A>T (p.Glu1050Val) c.2192A>T (p.Glu731Val) c.2183A>T (p.Glu728Val) | |
| 5 | g.37003305_37003307del | CA2580613545 | NIPBL | c.3813_3815del (p.Lys1271del) c.1-61273_1-61271del (n.1-61273_1-61271del) c.3069_3071del (p.Lys1023del) c.3615_3617del (p.Lys1205del) c.3432_3434del (p.Lys1144del) c.3153_3155del (p.Lys1051del) c.2196_2198del (p.Lys732del) c.2187_2189del (p.Lys729del) | ClinVar |
| 5 | g.37003302G>A | CA443904770 | NIPBL | c.3810G>A (p.Glu1270=) c.1-61276G>A (n.1-61276G>A) c.3066G>A (p.Glu1022=) c.3612G>A (p.Glu1204=) c.3429G>A (p.Glu1143=) c.3150G>A (p.Glu1050=) c.2193G>A (p.Glu731=) c.2184G>A (p.Glu728=) | |
| 5 | g.37003302G>C | CA359521983 | NIPBL | c.3810G>C (p.Glu1270Asp) c.1-61276G>C (n.1-61276G>C) c.3066G>C (p.Glu1022Asp) c.3612G>C (p.Glu1204Asp) c.3429G>C (p.Glu1143Asp) c.3150G>C (p.Glu1050Asp) c.2193G>C (p.Glu731Asp) c.2184G>C (p.Glu728Asp) | |
| 5 | g.37003302G>T | CA359521992 | NIPBL | c.3810G>T (p.Glu1270Asp) c.1-61276G>T (n.1-61276G>T) c.3066G>T (p.Glu1022Asp) c.3612G>T (p.Glu1204Asp) c.3429G>T (p.Glu1143Asp) c.3150G>T (p.Glu1050Asp) c.2193G>T (p.Glu731Asp) c.2184G>T (p.Glu728Asp) | |
| 5 | g.37003303A>C | CA359521997 | NIPBL | c.3811A>C (p.Lys1271Gln) c.1-61275A>C (n.1-61275A>C) c.3067A>C (p.Lys1023Gln) c.3613A>C (p.Lys1205Gln) c.3430A>C (p.Lys1144Gln) c.3151A>C (p.Lys1051Gln) c.2194A>C (p.Lys732Gln) c.2185A>C (p.Lys729Gln) | |
| 5 | g.37003303A>G | CA359522006 | NIPBL | c.3811A>G (p.Lys1271Glu) c.1-61275A>G (n.1-61275A>G) c.3067A>G (p.Lys1023Glu) c.3613A>G (p.Lys1205Glu) c.3430A>G (p.Lys1144Glu) c.3151A>G (p.Lys1051Glu) c.2194A>G (p.Lys732Glu) c.2185A>G (p.Lys729Glu) | |
| 5 | g.37003303A>T | CA359522009 | NIPBL | c.3811A>T (p.Lys1271Ter) c.1-61275A>T (n.1-61275A>T) c.3067A>T (p.Lys1023Ter) c.3613A>T (p.Lys1205Ter) c.3430A>T (p.Lys1144Ter) c.3151A>T (p.Lys1051Ter) c.2194A>T (p.Lys732Ter) c.2185A>T (p.Lys729Ter) | |
| 5 | g.37003304A>C | CA359522019 | NIPBL | c.3812A>C (p.Lys1271Thr) c.1-61274A>C (n.1-61274A>C) c.3068A>C (p.Lys1023Thr) c.3614A>C (p.Lys1205Thr) c.3431A>C (p.Lys1144Thr) c.3152A>C (p.Lys1051Thr) c.2195A>C (p.Lys732Thr) c.2186A>C (p.Lys729Thr) | |
| 5 | g.37003304A>G | CA359522015 | NIPBL | c.3812A>G (p.Lys1271Arg) c.1-61274A>G (n.1-61274A>G) c.3068A>G (p.Lys1023Arg) c.3614A>G (p.Lys1205Arg) c.3431A>G (p.Lys1144Arg) c.3152A>G (p.Lys1051Arg) c.2195A>G (p.Lys732Arg) c.2186A>G (p.Lys729Arg) | |
| 5 | g.37003304A>T | CA359522013 | NIPBL | c.3812A>T (p.Lys1271Met) c.1-61274A>T (n.1-61274A>T) c.3068A>T (p.Lys1023Met) c.3614A>T (p.Lys1205Met) c.3431A>T (p.Lys1144Met) c.3152A>T (p.Lys1051Met) c.2195A>T (p.Lys732Met) c.2186A>T (p.Lys729Met) | |
| 5 | g.37003305G>A | CA443904771 | NIPBL | c.3813G>A (p.Lys1271=) c.1-61273G>A (n.1-61273G>A) c.3069G>A (p.Lys1023=) c.3615G>A (p.Lys1205=) c.3432G>A (p.Lys1144=) c.3153G>A (p.Lys1051=) c.2196G>A (p.Lys732=) c.2187G>A (p.Lys729=) | |
| 5 | g.37003305G>C | CA359522022 | NIPBL | c.3813G>C (p.Lys1271Asn) c.1-61273G>C (n.1-61273G>C) c.3069G>C (p.Lys1023Asn) c.3615G>C (p.Lys1205Asn) c.3432G>C (p.Lys1144Asn) c.3153G>C (p.Lys1051Asn) c.2196G>C (p.Lys732Asn) c.2187G>C (p.Lys729Asn) | |
| 5 | g.37003305G>T | CA359522024 | NIPBL | c.3813G>T (p.Lys1271Asn) c.1-61273G>T (n.1-61273G>T) c.3069G>T (p.Lys1023Asn) c.3615G>T (p.Lys1205Asn) c.3432G>T (p.Lys1144Asn) c.3153G>T (p.Lys1051Asn) c.2196G>T (p.Lys732Asn) c.2187G>T (p.Lys729Asn) | |
| 5 | g.37003306A>C | CA359522031 | NIPBL | c.3814A>C (p.Asn1272His) c.1-61272A>C (n.1-61272A>C) c.3070A>C (p.Asn1024His) c.3616A>C (p.Asn1206His) c.3433A>C (p.Asn1145His) c.3154A>C (p.Asn1052His) c.2197A>C (p.Asn733His) c.2188A>C (p.Asn730His) | |
| 5 | g.37003306A>G | CA359522032 | NIPBL | c.3814A>G (p.Asn1272Asp) c.1-61272A>G (n.1-61272A>G) c.3070A>G (p.Asn1024Asp) c.3616A>G (p.Asn1206Asp) c.3433A>G (p.Asn1145Asp) c.3154A>G (p.Asn1052Asp) c.2197A>G (p.Asn733Asp) c.2188A>G (p.Asn730Asp) | |
| 5 | g.37003306A>T | CA359522033 | NIPBL | c.3814A>T (p.Asn1272Tyr) c.1-61272A>T (n.1-61272A>T) c.3070A>T (p.Asn1024Tyr) c.3616A>T (p.Asn1206Tyr) c.3433A>T (p.Asn1145Tyr) c.3154A>T (p.Asn1052Tyr) c.2197A>T (p.Asn733Tyr) c.2188A>T (p.Asn730Tyr) | |
| 5 | g.37003307A>C | CA359522036 | NIPBL | c.3815A>C (p.Asn1272Thr) c.1-61271A>C (n.1-61271A>C) c.3071A>C (p.Asn1024Thr) c.3617A>C (p.Asn1206Thr) c.3434A>C (p.Asn1145Thr) c.3155A>C (p.Asn1052Thr) c.2198A>C (p.Asn733Thr) c.2189A>C (p.Asn730Thr) | |
| 5 | g.37003307A>G | CA359522038 | NIPBL | c.3815A>G (p.Asn1272Ser) c.1-61271A>G (n.1-61271A>G) c.3071A>G (p.Asn1024Ser) c.3617A>G (p.Asn1206Ser) c.3434A>G (p.Asn1145Ser) c.3155A>G (p.Asn1052Ser) c.2198A>G (p.Asn733Ser) c.2189A>G (p.Asn730Ser) | |
| 5 | g.37003307A>T | CA359522041 | NIPBL | c.3815A>T (p.Asn1272Ile) c.1-61271A>T (n.1-61271A>T) c.3071A>T (p.Asn1024Ile) c.3617A>T (p.Asn1206Ile) c.3434A>T (p.Asn1145Ile) c.3155A>T (p.Asn1052Ile) c.2198A>T (p.Asn733Ile) c.2189A>T (p.Asn730Ile) | |
| 5 | g.37003308T>A | CA359522057 | NIPBL | c.3816T>A (p.Asn1272Lys) c.1-61270T>A (n.1-61270T>A) c.3072T>A (p.Asn1024Lys) c.3618T>A (p.Asn1206Lys) c.3435T>A (p.Asn1145Lys) c.3156T>A (p.Asn1052Lys) c.2199T>A (p.Asn733Lys) c.2190T>A (p.Asn730Lys) | |
| 5 | g.37003308T>C | CA443904772 | NIPBL | c.3816T>C (p.Asn1272=) c.1-61270T>C (n.1-61270T>C) c.3072T>C (p.Asn1024=) c.3618T>C (p.Asn1206=) c.3435T>C (p.Asn1145=) c.3156T>C (p.Asn1052=) c.2199T>C (p.Asn733=) c.2190T>C (p.Asn730=) | |
| 5 | g.37003308T>G | CA359522058 | NIPBL | c.3816T>G (p.Asn1272Lys) c.1-61270T>G (n.1-61270T>G) c.3072T>G (p.Asn1024Lys) c.3618T>G (p.Asn1206Lys) c.3435T>G (p.Asn1145Lys) c.3156T>G (p.Asn1052Lys) c.2199T>G (p.Asn733Lys) c.2190T>G (p.Asn730Lys) | |
| 5 | g.37003309A>C | CA359522061 | NIPBL | c.3817A>C (p.Ile1273Leu) c.1-61269A>C (n.1-61269A>C) c.3073A>C (p.Ile1025Leu) c.3619A>C (p.Ile1207Leu) c.3436A>C (p.Ile1146Leu) c.3157A>C (p.Ile1053Leu) c.2200A>C (p.Ile734Leu) c.2191A>C (p.Ile731Leu) | |
| 5 | g.37003309A>G | CA359522064 | NIPBL | c.3817A>G (p.Ile1273Val) c.1-61269A>G (n.1-61269A>G) c.3073A>G (p.Ile1025Val) c.3619A>G (p.Ile1207Val) c.3436A>G (p.Ile1146Val) c.3157A>G (p.Ile1053Val) c.2200A>G (p.Ile734Val) c.2191A>G (p.Ile731Val) | |
| 5 | g.37003309A>T | CA359522067 | NIPBL | c.3817A>T (p.Ile1273Phe) c.1-61269A>T (n.1-61269A>T) c.3073A>T (p.Ile1025Phe) c.3619A>T (p.Ile1207Phe) c.3436A>T (p.Ile1146Phe) c.3157A>T (p.Ile1053Phe) c.2200A>T (p.Ile734Phe) c.2191A>T (p.Ile731Phe) | |
| 5 | g.37003310T>A | CA359522075 | NIPBL | c.3818T>A (p.Ile1273Asn) c.1-61268T>A (n.1-61268T>A) c.3074T>A (p.Ile1025Asn) c.3620T>A (p.Ile1207Asn) c.3437T>A (p.Ile1146Asn) c.3158T>A (p.Ile1053Asn) c.2201T>A (p.Ile734Asn) c.2192T>A (p.Ile731Asn) | |
| 5 | g.37003310T>C | CA359522076 | NIPBL | c.3818T>C (p.Ile1273Thr) c.1-61268T>C (n.1-61268T>C) c.3074T>C (p.Ile1025Thr) c.3620T>C (p.Ile1207Thr) c.3437T>C (p.Ile1146Thr) c.3158T>C (p.Ile1053Thr) c.2201T>C (p.Ile734Thr) c.2192T>C (p.Ile731Thr) | |
| 5 | g.37003310T>G | CA272078 | NIPBL | c.3818T>G (p.Ile1273Ser) c.1-61268T>G (n.1-61268T>G) c.3074T>G (p.Ile1025Ser) c.3620T>G (p.Ile1207Ser) c.3437T>G (p.Ile1146Ser) c.3158T>G (p.Ile1053Ser) c.2201T>G (p.Ile734Ser) c.2192T>G (p.Ile731Ser) | ClinVar dbSNP |
| 5 | g.37003310T= | CA1539603692 | NIPBL | c.3818T= (p.Ile1273=) c.1-61268T= (n.1-61268T=) c.3074T= (p.Ile1025=) c.3620T= (p.Ile1207=) c.3437T= (p.Ile1146=) c.3158T= (p.Ile1053=) c.2201T= (p.Ile734=) c.2192T= (p.Ile731=) |