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.37016056_37016057delinsTG | CA1539615644 | NIPBL | c.4662_4663delinsTG (p.Gly1554=) c.1-48522_1-48521delinsTG (n.1-48522_1-48521delinsTG) c.3918_3919delinsTG (p.Gly1306=) c.4464_4465delinsTG (p.Gly1488=) c.4281_4282delinsTG (p.Gly1427=) c.4002_4003delinsTG (p.Gly1334=) c.3045_3046delinsTG (p.Gly1015=) c.3036_3037delinsTG (p.Gly1012=) | |
| 5 | g.37016057del | CA272122 | NIPBL | c.4663del (p.Glu1555LysfsTer?) c.1-48521del (n.1-48521del) c.3919del (p.Glu1307LysfsTer?) c.4465del (p.Glu1489LysfsTer?) c.4282del (p.Glu1428LysfsTer?) c.4003del (p.Glu1335LysfsTer?) c.3046del (p.Glu1016LysfsTer?) c.3037del (p.Glu1013LysfsTer?) | ClinVar dbSNP |
| 5 | g.37016057G>A | CA359482190 | NIPBL | c.4663G>A (p.Glu1555Lys) c.1-48521G>A (n.1-48521G>A) c.3919G>A (p.Glu1307Lys) c.4465G>A (p.Glu1489Lys) c.4282G>A (p.Glu1428Lys) c.4003G>A (p.Glu1335Lys) c.3046G>A (p.Glu1016Lys) c.3037G>A (p.Glu1013Lys) | |
| 5 | g.37016057G>C | CA359482203 | NIPBL | c.4663G>C (p.Glu1555Gln) c.1-48521G>C (n.1-48521G>C) c.3919G>C (p.Glu1307Gln) c.4465G>C (p.Glu1489Gln) c.4282G>C (p.Glu1428Gln) c.4003G>C (p.Glu1335Gln) c.3046G>C (p.Glu1016Gln) c.3037G>C (p.Glu1013Gln) | |
| 5 | g.37016057G>T | CA359482205 | NIPBL | c.4663G>T (p.Glu1555Ter) c.1-48521G>T (n.1-48521G>T) c.3919G>T (p.Glu1307Ter) c.4465G>T (p.Glu1489Ter) c.4282G>T (p.Glu1428Ter) c.4003G>T (p.Glu1335Ter) c.3046G>T (p.Glu1016Ter) c.3037G>T (p.Glu1013Ter) | |
| 5 | g.37016058A>C | CA359482211 | NIPBL | c.4664A>C (p.Glu1555Ala) c.1-48520A>C (n.1-48520A>C) c.3920A>C (p.Glu1307Ala) c.4466A>C (p.Glu1489Ala) c.4283A>C (p.Glu1428Ala) c.4004A>C (p.Glu1335Ala) c.3047A>C (p.Glu1016Ala) c.3038A>C (p.Glu1013Ala) | |
| 5 | g.37016058A>G | CA359482218 | NIPBL | c.4664A>G (p.Glu1555Gly) c.1-48520A>G (n.1-48520A>G) c.3920A>G (p.Glu1307Gly) c.4466A>G (p.Glu1489Gly) c.4283A>G (p.Glu1428Gly) c.4004A>G (p.Glu1335Gly) c.3047A>G (p.Glu1016Gly) c.3038A>G (p.Glu1013Gly) | |
| 5 | g.37016058A>T | CA359482213 | NIPBL | c.4664A>T (p.Glu1555Val) c.1-48520A>T (n.1-48520A>T) c.3920A>T (p.Glu1307Val) c.4466A>T (p.Glu1489Val) c.4283A>T (p.Glu1428Val) c.4004A>T (p.Glu1335Val) c.3047A>T (p.Glu1016Val) c.3038A>T (p.Glu1013Val) | |
| 5 | g.37016059A>C | CA359482221 | NIPBL | c.4665A>C (p.Glu1555Asp) c.1-48519A>C (n.1-48519A>C) c.3921A>C (p.Glu1307Asp) c.4467A>C (p.Glu1489Asp) c.4284A>C (p.Glu1428Asp) c.4005A>C (p.Glu1335Asp) c.3048A>C (p.Glu1016Asp) c.3039A>C (p.Glu1013Asp) | |
| 5 | g.37016059A>G | CA443904437 | NIPBL | c.4665A>G (p.Glu1555=) c.1-48519A>G (n.1-48519A>G) c.3921A>G (p.Glu1307=) c.4467A>G (p.Glu1489=) c.4284A>G (p.Glu1428=) c.4005A>G (p.Glu1335=) c.3048A>G (p.Glu1016=) c.3039A>G (p.Glu1013=) | |
| 5 | g.37016059A>T | CA359482224 | NIPBL | c.4665A>T (p.Glu1555Asp) c.1-48519A>T (n.1-48519A>T) c.3921A>T (p.Glu1307Asp) c.4467A>T (p.Glu1489Asp) c.4284A>T (p.Glu1428Asp) c.4005A>T (p.Glu1335Asp) c.3048A>T (p.Glu1016Asp) c.3039A>T (p.Glu1013Asp) | |
| 5 | g.37016060G>A | CA359482226 | NIPBL | c.4666G>A (p.Glu1556Lys) c.1-48518G>A (n.1-48518G>A) c.3922G>A (p.Glu1308Lys) c.4468G>A (p.Glu1490Lys) c.4285G>A (p.Glu1429Lys) c.4006G>A (p.Glu1336Lys) c.3049G>A (p.Glu1017Lys) c.3040G>A (p.Glu1014Lys) | |
| 5 | g.37016060G>C | CA359482229 | NIPBL | c.4666G>C (p.Glu1556Gln) c.1-48518G>C (n.1-48518G>C) c.3922G>C (p.Glu1308Gln) c.4468G>C (p.Glu1490Gln) c.4285G>C (p.Glu1429Gln) c.4006G>C (p.Glu1336Gln) c.3049G>C (p.Glu1017Gln) c.3040G>C (p.Glu1014Gln) | |
| 5 | g.37016060G>T | CA359482230 | NIPBL | c.4666G>T (p.Glu1556Ter) c.1-48518G>T (n.1-48518G>T) c.3922G>T (p.Glu1308Ter) c.4468G>T (p.Glu1490Ter) c.4285G>T (p.Glu1429Ter) c.4006G>T (p.Glu1336Ter) c.3049G>T (p.Glu1017Ter) c.3040G>T (p.Glu1014Ter) | |
| 5 | g.37016061A>C | CA359482231 | NIPBL | c.4667A>C (p.Glu1556Ala) c.1-48517A>C (n.1-48517A>C) c.3923A>C (p.Glu1308Ala) c.4469A>C (p.Glu1490Ala) c.4286A>C (p.Glu1429Ala) c.4007A>C (p.Glu1336Ala) c.3050A>C (p.Glu1017Ala) c.3041A>C (p.Glu1014Ala) | |
| 5 | g.37016061A>G | CA359482232 | NIPBL | c.4667A>G (p.Glu1556Gly) c.1-48517A>G (n.1-48517A>G) c.3923A>G (p.Glu1308Gly) c.4469A>G (p.Glu1490Gly) c.4286A>G (p.Glu1429Gly) c.4007A>G (p.Glu1336Gly) c.3050A>G (p.Glu1017Gly) c.3041A>G (p.Glu1014Gly) | |
| 5 | g.37016061A>T | CA359482233 | NIPBL | c.4667A>T (p.Glu1556Val) c.1-48517A>T (n.1-48517A>T) c.3923A>T (p.Glu1308Val) c.4469A>T (p.Glu1490Val) c.4286A>T (p.Glu1429Val) c.4007A>T (p.Glu1336Val) c.3050A>T (p.Glu1017Val) c.3041A>T (p.Glu1014Val) | |
| 5 | g.37016062A>C | CA359482234 | NIPBL | c.4668A>C (p.Glu1556Asp) c.1-48516A>C (n.1-48516A>C) c.3924A>C (p.Glu1308Asp) c.4470A>C (p.Glu1490Asp) c.4287A>C (p.Glu1429Asp) c.4008A>C (p.Glu1336Asp) c.3051A>C (p.Glu1017Asp) c.3042A>C (p.Glu1014Asp) | |
| 5 | g.37016062A>G | CA443904438 | NIPBL | c.4668A>G (p.Glu1556=) c.1-48516A>G (n.1-48516A>G) c.3924A>G (p.Glu1308=) c.4470A>G (p.Glu1490=) c.4287A>G (p.Glu1429=) c.4008A>G (p.Glu1336=) c.3051A>G (p.Glu1017=) c.3042A>G (p.Glu1014=) | |
| 5 | g.37016062A>T | CA359482236 | NIPBL | c.4668A>T (p.Glu1556Asp) c.1-48516A>T (n.1-48516A>T) c.3924A>T (p.Glu1308Asp) c.4470A>T (p.Glu1490Asp) c.4287A>T (p.Glu1429Asp) c.4008A>T (p.Glu1336Asp) c.3051A>T (p.Glu1017Asp) c.3042A>T (p.Glu1014Asp) | |
| 5 | g.37016063G>A | CA359482239 | NIPBL | c.4669G>A (p.Asp1557Asn) c.1-48515G>A (n.1-48515G>A) c.3925G>A (p.Asp1309Asn) c.4471G>A (p.Asp1491Asn) c.4288G>A (p.Asp1430Asn) c.4009G>A (p.Asp1337Asn) c.3052G>A (p.Asp1018Asn) c.3043G>A (p.Asp1015Asn) | |
| 5 | g.37016063G>C | CA359482249 | NIPBL | c.4669G>C (p.Asp1557His) c.1-48515G>C (n.1-48515G>C) c.3925G>C (p.Asp1309His) c.4471G>C (p.Asp1491His) c.4288G>C (p.Asp1430His) c.4009G>C (p.Asp1337His) c.3052G>C (p.Asp1018His) c.3043G>C (p.Asp1015His) | |
| 5 | g.37016063G>T | CA359482250 | NIPBL | c.4669G>T (p.Asp1557Tyr) c.1-48515G>T (n.1-48515G>T) c.3925G>T (p.Asp1309Tyr) c.4471G>T (p.Asp1491Tyr) c.4288G>T (p.Asp1430Tyr) c.4009G>T (p.Asp1337Tyr) c.3052G>T (p.Asp1018Tyr) c.3043G>T (p.Asp1015Tyr) | |
| 5 | g.37016064A>C | CA359482254 | NIPBL | c.4670A>C (p.Asp1557Ala) c.1-48514A>C (n.1-48514A>C) c.3926A>C (p.Asp1309Ala) c.4472A>C (p.Asp1491Ala) c.4289A>C (p.Asp1430Ala) c.4010A>C (p.Asp1337Ala) c.3053A>C (p.Asp1018Ala) c.3044A>C (p.Asp1015Ala) | |
| 5 | g.37016064A>G | CA359482256 | NIPBL | c.4670A>G (p.Asp1557Gly) c.1-48514A>G (n.1-48514A>G) c.3926A>G (p.Asp1309Gly) c.4472A>G (p.Asp1491Gly) c.4289A>G (p.Asp1430Gly) c.4010A>G (p.Asp1337Gly) c.3053A>G (p.Asp1018Gly) c.3044A>G (p.Asp1015Gly) | |
| 5 | g.37016064A>T | CA359482255 | NIPBL | c.4670A>T (p.Asp1557Val) c.1-48514A>T (n.1-48514A>T) c.3926A>T (p.Asp1309Val) c.4472A>T (p.Asp1491Val) c.4289A>T (p.Asp1430Val) c.4010A>T (p.Asp1337Val) c.3053A>T (p.Asp1018Val) c.3044A>T (p.Asp1015Val) | |
| 5 | g.37016065T>A | CA359482257 | NIPBL | c.4671T>A (p.Asp1557Glu) c.1-48513T>A (n.1-48513T>A) c.3927T>A (p.Asp1309Glu) c.4473T>A (p.Asp1491Glu) c.4290T>A (p.Asp1430Glu) c.4011T>A (p.Asp1337Glu) c.3054T>A (p.Asp1018Glu) c.3045T>A (p.Asp1015Glu) | |
| 5 | g.37016065T>C | CA443904439 | NIPBL | c.4671T>C (p.Asp1557=) c.1-48513T>C (n.1-48513T>C) c.3927T>C (p.Asp1309=) c.4473T>C (p.Asp1491=) c.4290T>C (p.Asp1430=) c.4011T>C (p.Asp1337=) c.3054T>C (p.Asp1018=) c.3045T>C (p.Asp1015=) | |
| 5 | g.37016065T>G | CA359482258 | NIPBL | c.4671T>G (p.Asp1557Glu) c.1-48513T>G (n.1-48513T>G) c.3927T>G (p.Asp1309Glu) c.4473T>G (p.Asp1491Glu) c.4290T>G (p.Asp1430Glu) c.4011T>G (p.Asp1337Glu) c.3054T>G (p.Asp1018Glu) c.3045T>G (p.Asp1015Glu) | |
| 5 | g.37016066T>A | CA359482261 | NIPBL | c.4672T>A (p.Tyr1558Asn) c.1-48512T>A (n.1-48512T>A) c.3928T>A (p.Tyr1310Asn) c.4474T>A (p.Tyr1492Asn) c.4291T>A (p.Tyr1431Asn) c.4012T>A (p.Tyr1338Asn) c.3055T>A (p.Tyr1019Asn) c.3046T>A (p.Tyr1016Asn) | |
| 5 | g.37016066T>C | CA359482270 | NIPBL | c.4672T>C (p.Tyr1558His) c.1-48512T>C (n.1-48512T>C) c.3928T>C (p.Tyr1310His) c.4474T>C (p.Tyr1492His) c.4291T>C (p.Tyr1431His) c.4012T>C (p.Tyr1338His) c.3055T>C (p.Tyr1019His) c.3046T>C (p.Tyr1016His) | |
| 5 | g.37016066T>G | CA359482271 | NIPBL | c.4672T>G (p.Tyr1558Asp) c.1-48512T>G (n.1-48512T>G) c.3928T>G (p.Tyr1310Asp) c.4474T>G (p.Tyr1492Asp) c.4291T>G (p.Tyr1431Asp) c.4012T>G (p.Tyr1338Asp) c.3055T>G (p.Tyr1019Asp) c.3046T>G (p.Tyr1016Asp) | |
| 5 | g.37016069_37016144dup | CA2499217843 | NIPBL | c.4675_4750dup (p.Leu1584GlnfsTer5) c.1-48509_1-48434dup (n.1-48509_1-48434dup) c.3931_4006dup (p.Leu1336GlnfsTer5) c.4477_4552dup (p.Leu1518GlnfsTer5) c.4294_4369dup (p.Leu1457GlnfsTer5) c.4015_4090dup (p.Leu1364GlnfsTer5) c.3058_3133dup (p.Leu1045GlnfsTer5) c.3049_3124dup (p.Leu1042GlnfsTer5) | ClinVar dbSNP |
| 5 | g.37016067A= | CA1539615654 | NIPBL | c.4673A= (p.Tyr1558=) c.1-48511A= (n.1-48511A=) c.3929A= (p.Tyr1310=) c.4475A= (p.Tyr1492=) c.4292A= (p.Tyr1431=) c.4013A= (p.Tyr1338=) c.3056A= (p.Tyr1019=) c.3047A= (p.Tyr1016=) | |
| 5 | g.37016067A>C | CA359482277 | NIPBL | c.4673A>C (p.Tyr1558Ser) c.1-48511A>C (n.1-48511A>C) c.3929A>C (p.Tyr1310Ser) c.4475A>C (p.Tyr1492Ser) c.4292A>C (p.Tyr1431Ser) c.4013A>C (p.Tyr1338Ser) c.3056A>C (p.Tyr1019Ser) c.3047A>C (p.Tyr1016Ser) | ClinVar dbSNP |
| 5 | g.37016067A>G | CA359482278 | NIPBL | c.4673A>G (p.Tyr1558Cys) c.1-48511A>G (n.1-48511A>G) c.3929A>G (p.Tyr1310Cys) c.4475A>G (p.Tyr1492Cys) c.4292A>G (p.Tyr1431Cys) c.4013A>G (p.Tyr1338Cys) c.3056A>G (p.Tyr1019Cys) c.3047A>G (p.Tyr1016Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37016067A>T | CA359482279 | NIPBL | c.4673A>T (p.Tyr1558Phe) c.1-48511A>T (n.1-48511A>T) c.3929A>T (p.Tyr1310Phe) c.4475A>T (p.Tyr1492Phe) c.4292A>T (p.Tyr1431Phe) c.4013A>T (p.Tyr1338Phe) c.3056A>T (p.Tyr1019Phe) c.3047A>T (p.Tyr1016Phe) | |
| 5 | g.37016068C>A | CA359482280 | NIPBL | c.4674C>A (p.Tyr1558Ter) c.1-48510C>A (n.1-48510C>A) c.3930C>A (p.Tyr1310Ter) c.4476C>A (p.Tyr1492Ter) c.4293C>A (p.Tyr1431Ter) c.4014C>A (p.Tyr1338Ter) c.3057C>A (p.Tyr1019Ter) c.3048C>A (p.Tyr1016Ter) | |
| 5 | g.37016068C= | CA1539615657 | NIPBL | c.4674C= (p.Tyr1558=) c.1-48510C= (n.1-48510C=) c.3930C= (p.Tyr1310=) c.4476C= (p.Tyr1492=) c.4293C= (p.Tyr1431=) c.4014C= (p.Tyr1338=) c.3057C= (p.Tyr1019=) c.3048C= (p.Tyr1016=) | |
| 5 | g.37016068C>G | CA359482282 | NIPBL | c.4674C>G (p.Tyr1558Ter) c.1-48510C>G (n.1-48510C>G) c.3930C>G (p.Tyr1310Ter) c.4476C>G (p.Tyr1492Ter) c.4293C>G (p.Tyr1431Ter) c.4014C>G (p.Tyr1338Ter) c.3057C>G (p.Tyr1019Ter) c.3048C>G (p.Tyr1016Ter) | |
| 5 | g.37016068C>T | CA172701 | NIPBL | c.4674C>T (p.Tyr1558=) c.1-48510C>T (n.1-48510C>T) c.3930C>T (p.Tyr1310=) c.4476C>T (p.Tyr1492=) c.4293C>T (p.Tyr1431=) c.4014C>T (p.Tyr1338=) c.3057C>T (p.Tyr1019=) c.3048C>T (p.Tyr1016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016069A>C | CA443904440 | NIPBL | c.4675A>C (p.Arg1559=) c.1-48509A>C (n.1-48509A>C) c.3931A>C (p.Arg1311=) c.4477A>C (p.Arg1493=) c.4294A>C (p.Arg1432=) c.4015A>C (p.Arg1339=) c.3058A>C (p.Arg1020=) c.3049A>C (p.Arg1017=) | |
| 5 | g.37016069A>G | CA359482284 | NIPBL | c.4675A>G (p.Arg1559Gly) c.1-48509A>G (n.1-48509A>G) c.3931A>G (p.Arg1311Gly) c.4477A>G (p.Arg1493Gly) c.4294A>G (p.Arg1432Gly) c.4015A>G (p.Arg1339Gly) c.3058A>G (p.Arg1020Gly) c.3049A>G (p.Arg1017Gly) | |
| 5 | g.37016069A>T | CA359482285 | NIPBL | c.4675A>T (p.Arg1559Ter) c.1-48509A>T (n.1-48509A>T) c.3931A>T (p.Arg1311Ter) c.4477A>T (p.Arg1493Ter) c.4294A>T (p.Arg1432Ter) c.4015A>T (p.Arg1339Ter) c.3058A>T (p.Arg1020Ter) c.3049A>T (p.Arg1017Ter) | |
| 5 | g.37016070G>A | CA359482287 | NIPBL | c.4676G>A (p.Arg1559Lys) c.1-48508G>A (n.1-48508G>A) c.3932G>A (p.Arg1311Lys) c.4478G>A (p.Arg1493Lys) c.4295G>A (p.Arg1432Lys) c.4016G>A (p.Arg1339Lys) c.3059G>A (p.Arg1020Lys) c.3050G>A (p.Arg1017Lys) | gnomAD v4 |
| 5 | g.37016070G>C | CA359482294 | NIPBL | c.4676G>C (p.Arg1559Thr) c.1-48508G>C (n.1-48508G>C) c.3932G>C (p.Arg1311Thr) c.4478G>C (p.Arg1493Thr) c.4295G>C (p.Arg1432Thr) c.4016G>C (p.Arg1339Thr) c.3059G>C (p.Arg1020Thr) c.3050G>C (p.Arg1017Thr) | |
| 5 | g.37016070G>T | CA359482290 | NIPBL | c.4676G>T (p.Arg1559Ile) c.1-48508G>T (n.1-48508G>T) c.3932G>T (p.Arg1311Ile) c.4478G>T (p.Arg1493Ile) c.4295G>T (p.Arg1432Ile) c.4016G>T (p.Arg1339Ile) c.3059G>T (p.Arg1020Ile) c.3050G>T (p.Arg1017Ile) | |
| 5 | g.37016071A>C | CA359482296 | NIPBL | c.4677A>C (p.Arg1559Ser) c.1-48507A>C (n.1-48507A>C) c.3933A>C (p.Arg1311Ser) c.4479A>C (p.Arg1493Ser) c.4296A>C (p.Arg1432Ser) c.4017A>C (p.Arg1339Ser) c.3060A>C (p.Arg1020Ser) c.3051A>C (p.Arg1017Ser) | |
| 5 | g.37016071A>G | CA443904441 | NIPBL | c.4677A>G (p.Arg1559=) c.1-48507A>G (n.1-48507A>G) c.3933A>G (p.Arg1311=) c.4479A>G (p.Arg1493=) c.4296A>G (p.Arg1432=) c.4017A>G (p.Arg1339=) c.3060A>G (p.Arg1020=) c.3051A>G (p.Arg1017=) | |
| 5 | g.37016071A>T | CA359482305 | NIPBL | c.4677A>T (p.Arg1559Ser) c.1-48507A>T (n.1-48507A>T) c.3933A>T (p.Arg1311Ser) c.4479A>T (p.Arg1493Ser) c.4296A>T (p.Arg1432Ser) c.4017A>T (p.Arg1339Ser) c.3060A>T (p.Arg1020Ser) c.3051A>T (p.Arg1017Ser) | COSMIC COSMIC |