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.37002662_37002665delinsGTGA | CA1539603106 | NIPBL | c.3665_3668delinsGTGA (p.Gly1222=) c.1-61916_1-61913delinsGTGA (n.1-61916_1-61913delinsGTGA) c.2921_2924delinsGTGA (p.Gly974=) c.3467_3470delinsGTGA (p.Gly1156=) c.3284_3287delinsGTGA (p.Gly1095=) c.3005_3008delinsGTGA (p.Gly1002=) c.2048_2051delinsGTGA (p.Gly683=) c.2039_2042delinsGTGA (p.Gly680=) | |
| 5 | g.37002663T>A | CA443904590 | NIPBL | c.3666T>A (p.Gly1222=) c.1-61915T>A (n.1-61915T>A) c.2922T>A (p.Gly974=) c.3468T>A (p.Gly1156=) c.3285T>A (p.Gly1095=) c.3006T>A (p.Gly1002=) c.2049T>A (p.Gly683=) c.2040T>A (p.Gly680=) | |
| 5 | g.37002663T>C | CA443904591 | NIPBL | c.3666T>C (p.Gly1222=) c.1-61915T>C (n.1-61915T>C) c.2922T>C (p.Gly974=) c.3468T>C (p.Gly1156=) c.3285T>C (p.Gly1095=) c.3006T>C (p.Gly1002=) c.2049T>C (p.Gly683=) c.2040T>C (p.Gly680=) | |
| 5 | g.37002663T>G | CA443904592 | NIPBL | c.3666T>G (p.Gly1222=) c.1-61915T>G (n.1-61915T>G) c.2922T>G (p.Gly974=) c.3468T>G (p.Gly1156=) c.3285T>G (p.Gly1095=) c.3006T>G (p.Gly1002=) c.2049T>G (p.Gly683=) c.2040T>G (p.Gly680=) | |
| 5 | g.37002672_37002674del | CA3236406 | NIPBL | c.3675_3677del (p.Asp1225del) c.1-61906_1-61904del (n.1-61906_1-61904del) c.2931_2933del (p.Asp977del) c.3477_3479del (p.Asp1159del) c.3294_3296del (p.Asp1098del) c.3015_3017del (p.Asp1005del) c.2058_2060del (p.Asp686del) c.2049_2051del (p.Asp683del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37002664G>A | CA117057904 | NIPBL | c.3667G>A (p.Asp1223Asn) c.1-61914G>A (n.1-61914G>A) c.2923G>A (p.Asp975Asn) c.3469G>A (p.Asp1157Asn) c.3286G>A (p.Asp1096Asn) c.3007G>A (p.Asp1003Asn) c.2050G>A (p.Asp684Asn) c.2041G>A (p.Asp681Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37002664G>C | CA359519798 | NIPBL | c.3667G>C (p.Asp1223His) c.1-61914G>C (n.1-61914G>C) c.2923G>C (p.Asp975His) c.3469G>C (p.Asp1157His) c.3286G>C (p.Asp1096His) c.3007G>C (p.Asp1003His) c.2050G>C (p.Asp684His) c.2041G>C (p.Asp681His) | |
| 5 | g.37002664G= | CA1539603111 | NIPBL | c.3667G= (p.Asp1223=) c.1-61914G= (n.1-61914G=) c.2923G= (p.Asp975=) c.3469G= (p.Asp1157=) c.3286G= (p.Asp1096=) c.3007G= (p.Asp1003=) c.2050G= (p.Asp684=) c.2041G= (p.Asp681=) | |
| 5 | g.37002664G>T | CA359519795 | NIPBL | c.3667G>T (p.Asp1223Tyr) c.1-61914G>T (n.1-61914G>T) c.2923G>T (p.Asp975Tyr) c.3469G>T (p.Asp1157Tyr) c.3286G>T (p.Asp1096Tyr) c.3007G>T (p.Asp1003Tyr) c.2050G>T (p.Asp684Tyr) c.2041G>T (p.Asp681Tyr) | |
| 5 | g.37002665A= | CA1539603118 | NIPBL | c.3668A= (p.Asp1223=) c.1-61913A= (n.1-61913A=) c.2924A= (p.Asp975=) c.3470A= (p.Asp1157=) c.3287A= (p.Asp1096=) c.3008A= (p.Asp1003=) c.2051A= (p.Asp684=) c.2042A= (p.Asp681=) | |
| 5 | g.37002665A>C | CA359519799 | NIPBL | c.3668A>C (p.Asp1223Ala) c.1-61913A>C (n.1-61913A>C) c.2924A>C (p.Asp975Ala) c.3470A>C (p.Asp1157Ala) c.3287A>C (p.Asp1096Ala) c.3008A>C (p.Asp1003Ala) c.2051A>C (p.Asp684Ala) c.2042A>C (p.Asp681Ala) | |
| 5 | g.37002665A>G | CA3236407 | NIPBL | c.3668A>G (p.Asp1223Gly) c.1-61913A>G (n.1-61913A>G) c.2924A>G (p.Asp975Gly) c.3470A>G (p.Asp1157Gly) c.3287A>G (p.Asp1096Gly) c.3008A>G (p.Asp1003Gly) c.2051A>G (p.Asp684Gly) c.2042A>G (p.Asp681Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37002665A>T | CA359519801 | NIPBL | c.3668A>T (p.Asp1223Val) c.1-61913A>T (n.1-61913A>T) c.2924A>T (p.Asp975Val) c.3470A>T (p.Asp1157Val) c.3287A>T (p.Asp1096Val) c.3008A>T (p.Asp1003Val) c.2051A>T (p.Asp684Val) c.2042A>T (p.Asp681Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37002666T>A | CA359519803 | NIPBL | c.3669T>A (p.Asp1223Glu) c.1-61912T>A (n.1-61912T>A) c.2925T>A (p.Asp975Glu) c.3471T>A (p.Asp1157Glu) c.3288T>A (p.Asp1096Glu) c.3009T>A (p.Asp1003Glu) c.2052T>A (p.Asp684Glu) c.2043T>A (p.Asp681Glu) | |
| 5 | g.37002666T>C | CA443904593 | NIPBL | c.3669T>C (p.Asp1223=) c.1-61912T>C (n.1-61912T>C) c.2925T>C (p.Asp975=) c.3471T>C (p.Asp1157=) c.3288T>C (p.Asp1096=) c.3009T>C (p.Asp1003=) c.2052T>C (p.Asp684=) c.2043T>C (p.Asp681=) | |
| 5 | g.37002666T>G | CA359519805 | NIPBL | c.3669T>G (p.Asp1223Glu) c.1-61912T>G (n.1-61912T>G) c.2925T>G (p.Asp975Glu) c.3471T>G (p.Asp1157Glu) c.3288T>G (p.Asp1096Glu) c.3009T>G (p.Asp1003Glu) c.2052T>G (p.Asp684Glu) c.2043T>G (p.Asp681Glu) | |
| 5 | g.37002667G>A | CA359519807 | NIPBL | c.3670G>A (p.Asp1224Asn) c.1-61911G>A (n.1-61911G>A) c.2926G>A (p.Asp976Asn) c.3472G>A (p.Asp1158Asn) c.3289G>A (p.Asp1097Asn) c.3010G>A (p.Asp1004Asn) c.2053G>A (p.Asp685Asn) c.2044G>A (p.Asp682Asn) | |
| 5 | g.37002667G>C | CA359519809 | NIPBL | c.3670G>C (p.Asp1224His) c.1-61911G>C (n.1-61911G>C) c.2926G>C (p.Asp976His) c.3472G>C (p.Asp1158His) c.3289G>C (p.Asp1097His) c.3010G>C (p.Asp1004His) c.2053G>C (p.Asp685His) c.2044G>C (p.Asp682His) | |
| 5 | g.37002667G>T | CA359519810 | NIPBL | c.3670G>T (p.Asp1224Tyr) c.1-61911G>T (n.1-61911G>T) c.2926G>T (p.Asp976Tyr) c.3472G>T (p.Asp1158Tyr) c.3289G>T (p.Asp1097Tyr) c.3010G>T (p.Asp1004Tyr) c.2053G>T (p.Asp685Tyr) c.2044G>T (p.Asp682Tyr) | |
| 5 | g.37002668A>C | CA359519814 | NIPBL | c.3671A>C (p.Asp1224Ala) c.1-61910A>C (n.1-61910A>C) c.2927A>C (p.Asp976Ala) c.3473A>C (p.Asp1158Ala) c.3290A>C (p.Asp1097Ala) c.3011A>C (p.Asp1004Ala) c.2054A>C (p.Asp685Ala) c.2045A>C (p.Asp682Ala) | |
| 5 | g.37002668A>G | CA359519811 | NIPBL | c.3671A>G (p.Asp1224Gly) c.1-61910A>G (n.1-61910A>G) c.2927A>G (p.Asp976Gly) c.3473A>G (p.Asp1158Gly) c.3290A>G (p.Asp1097Gly) c.3011A>G (p.Asp1004Gly) c.2054A>G (p.Asp685Gly) c.2045A>G (p.Asp682Gly) | dbSNP gnomAD v4 |
| 5 | g.37002668A>T | CA359519813 | NIPBL | c.3671A>T (p.Asp1224Val) c.1-61910A>T (n.1-61910A>T) c.2927A>T (p.Asp976Val) c.3473A>T (p.Asp1158Val) c.3290A>T (p.Asp1097Val) c.3011A>T (p.Asp1004Val) c.2054A>T (p.Asp685Val) c.2045A>T (p.Asp682Val) | |
| 5 | g.37002669T>A | CA359519816 | NIPBL | c.3672T>A (p.Asp1224Glu) c.1-61909T>A (n.1-61909T>A) c.2928T>A (p.Asp976Glu) c.3474T>A (p.Asp1158Glu) c.3291T>A (p.Asp1097Glu) c.3012T>A (p.Asp1004Glu) c.2055T>A (p.Asp685Glu) c.2046T>A (p.Asp682Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37002669T>C | CA443904594 | NIPBL | c.3672T>C (p.Asp1224=) c.1-61909T>C (n.1-61909T>C) c.2928T>C (p.Asp976=) c.3474T>C (p.Asp1158=) c.3291T>C (p.Asp1097=) c.3012T>C (p.Asp1004=) c.2055T>C (p.Asp685=) c.2046T>C (p.Asp682=) | |
| 5 | g.37002669T>G | CA359519818 | NIPBL | c.3672T>G (p.Asp1224Glu) c.1-61909T>G (n.1-61909T>G) c.2928T>G (p.Asp976Glu) c.3474T>G (p.Asp1158Glu) c.3291T>G (p.Asp1097Glu) c.3012T>G (p.Asp1004Glu) c.2055T>G (p.Asp685Glu) c.2046T>G (p.Asp682Glu) | |
| 5 | g.37002669T= | CA1539603128 | NIPBL | c.3672T= (p.Asp1224=) c.1-61909T= (n.1-61909T=) c.2928T= (p.Asp976=) c.3474T= (p.Asp1158=) c.3291T= (p.Asp1097=) c.3012T= (p.Asp1004=) c.2055T= (p.Asp685=) c.2046T= (p.Asp682=) | |
| 5 | g.37002670G>A | CA359519820 | NIPBL | c.3673G>A (p.Asp1225Asn) c.1-61908G>A (n.1-61908G>A) c.2929G>A (p.Asp977Asn) c.3475G>A (p.Asp1159Asn) c.3292G>A (p.Asp1098Asn) c.3013G>A (p.Asp1005Asn) c.2056G>A (p.Asp686Asn) c.2047G>A (p.Asp683Asn) | COSMIC COSMIC |
| 5 | g.37002670G>C | CA359519823 | NIPBL | c.3673G>C (p.Asp1225His) c.1-61908G>C (n.1-61908G>C) c.2929G>C (p.Asp977His) c.3475G>C (p.Asp1159His) c.3292G>C (p.Asp1098His) c.3013G>C (p.Asp1005His) c.2056G>C (p.Asp686His) c.2047G>C (p.Asp683His) | |
| 5 | g.37002670G>T | CA359519826 | NIPBL | c.3673G>T (p.Asp1225Tyr) c.1-61908G>T (n.1-61908G>T) c.2929G>T (p.Asp977Tyr) c.3475G>T (p.Asp1159Tyr) c.3292G>T (p.Asp1098Tyr) c.3013G>T (p.Asp1005Tyr) c.2056G>T (p.Asp686Tyr) c.2047G>T (p.Asp683Tyr) | |
| 5 | g.37002670_37002671dup | CA559022760 | NIPBL | c.3673_3674dup (p.Asp1225GlufsTer10) c.1-61908_1-61907dup (n.1-61908_1-61907dup) c.2929_2930dup (p.Asp977GlufsTer10) c.3475_3476dup (p.Asp1159GlufsTer10) c.3292_3293dup (p.Asp1098GlufsTer10) c.3013_3014dup (p.Asp1005GlufsTer10) c.2056_2057dup (p.Asp686GlufsTer10) c.2047_2048dup (p.Asp683GlufsTer10) | dbSNP gnomAD v2 |
| 5 | g.37002671A= | CA1539603133 | NIPBL | c.3674A= (p.Asp1225=) c.1-61907A= (n.1-61907A=) c.2930A= (p.Asp977=) c.3476A= (p.Asp1159=) c.3293A= (p.Asp1098=) c.3014A= (p.Asp1005=) c.2057A= (p.Asp686=) c.2048A= (p.Asp683=) | |
| 5 | g.37002671A>C | CA359519829 | NIPBL | c.3674A>C (p.Asp1225Ala) c.1-61907A>C (n.1-61907A>C) c.2930A>C (p.Asp977Ala) c.3476A>C (p.Asp1159Ala) c.3293A>C (p.Asp1098Ala) c.3014A>C (p.Asp1005Ala) c.2057A>C (p.Asp686Ala) c.2048A>C (p.Asp683Ala) | |
| 5 | g.37002671A>G | CA3236408 | NIPBL | c.3674A>G (p.Asp1225Gly) c.1-61907A>G (n.1-61907A>G) c.2930A>G (p.Asp977Gly) c.3476A>G (p.Asp1159Gly) c.3293A>G (p.Asp1098Gly) c.3014A>G (p.Asp1005Gly) c.2057A>G (p.Asp686Gly) c.2048A>G (p.Asp683Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37002671A>T | CA359519834 | NIPBL | c.3674A>T (p.Asp1225Val) c.1-61907A>T (n.1-61907A>T) c.2930A>T (p.Asp977Val) c.3476A>T (p.Asp1159Val) c.3293A>T (p.Asp1098Val) c.3014A>T (p.Asp1005Val) c.2057A>T (p.Asp686Val) c.2048A>T (p.Asp683Val) | |
| 5 | g.37002672T>A | CA3236409 | NIPBL | c.3675T>A (p.Asp1225Glu) c.1-61906T>A (n.1-61906T>A) c.2931T>A (p.Asp977Glu) c.3477T>A (p.Asp1159Glu) c.3294T>A (p.Asp1098Glu) c.3015T>A (p.Asp1005Glu) c.2058T>A (p.Asp686Glu) c.2049T>A (p.Asp683Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37002672T>C | CA117057912 | NIPBL | c.3675T>C (p.Asp1225=) c.1-61906T>C (n.1-61906T>C) c.2931T>C (p.Asp977=) c.3477T>C (p.Asp1159=) c.3294T>C (p.Asp1098=) c.3015T>C (p.Asp1005=) c.2058T>C (p.Asp686=) c.2049T>C (p.Asp683=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37002672T>G | CA359521089 | NIPBL | c.3675T>G (p.Asp1225Glu) c.1-61906T>G (n.1-61906T>G) c.2931T>G (p.Asp977Glu) c.3477T>G (p.Asp1159Glu) c.3294T>G (p.Asp1098Glu) c.3015T>G (p.Asp1005Glu) c.2058T>G (p.Asp686Glu) c.2049T>G (p.Asp683Glu) | gnomAD v4 |
| 5 | g.37002672T= | CA1539603136 | NIPBL | c.3675T= (p.Asp1225=) c.1-61906T= (n.1-61906T=) c.2931T= (p.Asp977=) c.3477T= (p.Asp1159=) c.3294T= (p.Asp1098=) c.3015T= (p.Asp1005=) c.2058T= (p.Asp686=) c.2049T= (p.Asp683=) | |
| 5 | g.37002672_37002673insA | CA559022837 | NIPBL | c.3675_3676insA (p.Glu1226ArgfsTer14) c.1-61906_1-61905insA (n.1-61906_1-61905insA) c.2931_2932insA (p.Glu978ArgfsTer14) c.3477_3478insA (p.Glu1160ArgfsTer14) c.3294_3295insA (p.Glu1099ArgfsTer14) c.3015_3016insA (p.Glu1006ArgfsTer14) c.2058_2059insA (p.Glu687ArgfsTer14) c.2049_2050insA (p.Glu684ArgfsTer14) | gnomAD v2 |
| 5 | g.37002673G>A | CA359521100 | NIPBL | c.3676G>A (p.Glu1226Lys) c.1-61905G>A (n.1-61905G>A) c.2932G>A (p.Glu978Lys) c.3478G>A (p.Glu1160Lys) c.3295G>A (p.Glu1099Lys) c.3016G>A (p.Glu1006Lys) c.2059G>A (p.Glu687Lys) c.2050G>A (p.Glu684Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37002673G>C | CA359521103 | NIPBL | c.3676G>C (p.Glu1226Gln) c.1-61905G>C (n.1-61905G>C) c.2932G>C (p.Glu978Gln) c.3478G>C (p.Glu1160Gln) c.3295G>C (p.Glu1099Gln) c.3016G>C (p.Glu1006Gln) c.2059G>C (p.Glu687Gln) c.2050G>C (p.Glu684Gln) | |
| 5 | g.37002673G= | CA1539603142 | NIPBL | c.3676G= (p.Glu1226=) c.1-61905G= (n.1-61905G=) c.2932G= (p.Glu978=) c.3478G= (p.Glu1160=) c.3295G= (p.Glu1099=) c.3016G= (p.Glu1006=) c.2059G= (p.Glu687=) c.2050G= (p.Glu684=) | |
| 5 | g.37002673G>T | CA359521096 | NIPBL | c.3676G>T (p.Glu1226Ter) c.1-61905G>T (n.1-61905G>T) c.2932G>T (p.Glu978Ter) c.3478G>T (p.Glu1160Ter) c.3295G>T (p.Glu1099Ter) c.3016G>T (p.Glu1006Ter) c.2059G>T (p.Glu687Ter) c.2050G>T (p.Glu684Ter) | |
| 5 | g.37002674A= | CA1539603144 | NIPBL | c.3677A= (p.Glu1226=) c.1-61904A= (n.1-61904A=) c.2933A= (p.Glu978=) c.3479A= (p.Glu1160=) c.3296A= (p.Glu1099=) c.3017A= (p.Glu1006=) c.2060A= (p.Glu687=) c.2051A= (p.Glu684=) | |
| 5 | g.37002674A>C | CA359521108 | NIPBL | c.3677A>C (p.Glu1226Ala) c.1-61904A>C (n.1-61904A>C) c.2933A>C (p.Glu978Ala) c.3479A>C (p.Glu1160Ala) c.3296A>C (p.Glu1099Ala) c.3017A>C (p.Glu1006Ala) c.2060A>C (p.Glu687Ala) c.2051A>C (p.Glu684Ala) | gnomAD v4 |
| 5 | g.37002674A>G | CA359521110 | NIPBL | c.3677A>G (p.Glu1226Gly) c.1-61904A>G (n.1-61904A>G) c.2933A>G (p.Glu978Gly) c.3479A>G (p.Glu1160Gly) c.3296A>G (p.Glu1099Gly) c.3017A>G (p.Glu1006Gly) c.2060A>G (p.Glu687Gly) c.2051A>G (p.Glu684Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37002674A>T | CA359521113 | NIPBL | c.3677A>T (p.Glu1226Val) c.1-61904A>T (n.1-61904A>T) c.2933A>T (p.Glu978Val) c.3479A>T (p.Glu1160Val) c.3296A>T (p.Glu1099Val) c.3017A>T (p.Glu1006Val) c.2060A>T (p.Glu687Val) c.2051A>T (p.Glu684Val) | |
| 5 | g.37002675A>C | CA359521117 | NIPBL | c.3678A>C (p.Glu1226Asp) c.1-61903A>C (n.1-61903A>C) c.2934A>C (p.Glu978Asp) c.3480A>C (p.Glu1160Asp) c.3297A>C (p.Glu1099Asp) c.3018A>C (p.Glu1006Asp) c.2061A>C (p.Glu687Asp) c.2052A>C (p.Glu684Asp) | |
| 5 | g.37002675A>G | CA443904686 | NIPBL | c.3678A>G (p.Glu1226=) c.1-61903A>G (n.1-61903A>G) c.2934A>G (p.Glu978=) c.3480A>G (p.Glu1160=) c.3297A>G (p.Glu1099=) c.3018A>G (p.Glu1006=) c.2061A>G (p.Glu687=) c.2052A>G (p.Glu684=) | gnomAD v4 |
| 5 | g.37002675A>T | CA359521119 | NIPBL | c.3678A>T (p.Glu1226Asp) c.1-61903A>T (n.1-61903A>T) c.2934A>T (p.Glu978Asp) c.3480A>T (p.Glu1160Asp) c.3297A>T (p.Glu1099Asp) c.3018A>T (p.Glu1006Asp) c.2061A>T (p.Glu687Asp) c.2052A>T (p.Glu684Asp) |