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.37052397_37052420dup | CA810284540 | NIPBL | c.7094_7117dup (p.Asn2372_Thr2373insAsnGlnValGlnGlnAlaIleAsn) n.976_999dup c.1-12181_1-12158dup (n.1-12181_1-12158dup) c.6350_6373dup (p.Asn2124_Thr2125insAsnGlnValGlnGlnAlaIleAsn) c.6896_6919dup (p.Asn2306_Thr2307insAsnGlnValGlnGlnAlaIleAsn) c.6713_6736dup (p.Asn2245_Thr2246insAsnGlnValGlnGlnAlaIleAsn) c.6434_6457dup (p.Asn2152_Thr2153insAsnGlnValGlnGlnAlaIleAsn) c.5477_5500dup (p.Asn1833_Thr1834insAsnGlnValGlnGlnAlaIleAsn) c.5468_5491dup (p.Asn1830_Thr1831insAsnGlnValGlnGlnAlaIleAsn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37052405C>A | CA359511195 | NIPBL | c.7102C>A (p.Gln2368Lys) n.984C>A c.1-12173C>A (n.1-12173C>A) c.6358C>A (p.Gln2120Lys) c.6904C>A (p.Gln2302Lys) c.6721C>A (p.Gln2241Lys) c.6442C>A (p.Gln2148Lys) c.5485C>A (p.Gln1829Lys) c.5476C>A (p.Gln1826Lys) | |
| 5 | g.37052405C= | CA1539572140 | NIPBL | c.7102C= (p.Gln2368=) n.984C= c.1-12173C= (n.1-12173C=) c.6358C= (p.Gln2120=) c.6904C= (p.Gln2302=) c.6721C= (p.Gln2241=) c.6442C= (p.Gln2148=) c.5485C= (p.Gln1829=) c.5476C= (p.Gln1826=) | |
| 5 | g.37052405C>G | CA359511197 | NIPBL | c.7102C>G (p.Gln2368Glu) n.984C>G c.1-12173C>G (n.1-12173C>G) c.6358C>G (p.Gln2120Glu) c.6904C>G (p.Gln2302Glu) c.6721C>G (p.Gln2241Glu) c.6442C>G (p.Gln2148Glu) c.5485C>G (p.Gln1829Glu) c.5476C>G (p.Gln1826Glu) | |
| 5 | g.37052405C>T | CA272285 | NIPBL | c.7102C>T (p.Gln2368Ter) n.984C>T c.1-12173C>T (n.1-12173C>T) c.6358C>T (p.Gln2120Ter) c.6904C>T (p.Gln2302Ter) c.6721C>T (p.Gln2241Ter) c.6442C>T (p.Gln2148Ter) c.5485C>T (p.Gln1829Ter) c.5476C>T (p.Gln1826Ter) | ClinVar dbSNP |
| 5 | g.37052406A>C | CA359511201 | NIPBL | c.7103A>C (p.Gln2368Pro) n.985A>C c.1-12172A>C (n.1-12172A>C) c.6359A>C (p.Gln2120Pro) c.6905A>C (p.Gln2302Pro) c.6722A>C (p.Gln2241Pro) c.6443A>C (p.Gln2148Pro) c.5486A>C (p.Gln1829Pro) c.5477A>C (p.Gln1826Pro) | |
| 5 | g.37052406A>G | CA359511204 | NIPBL | c.7103A>G (p.Gln2368Arg) n.985A>G c.1-12172A>G (n.1-12172A>G) c.6359A>G (p.Gln2120Arg) c.6905A>G (p.Gln2302Arg) c.6722A>G (p.Gln2241Arg) c.6443A>G (p.Gln2148Arg) c.5486A>G (p.Gln1829Arg) c.5477A>G (p.Gln1826Arg) | |
| 5 | g.37052406A>T | CA359511207 | NIPBL | c.7103A>T (p.Gln2368Leu) n.985A>T c.1-12172A>T (n.1-12172A>T) c.6359A>T (p.Gln2120Leu) c.6905A>T (p.Gln2302Leu) c.6722A>T (p.Gln2241Leu) c.6443A>T (p.Gln2148Leu) c.5486A>T (p.Gln1829Leu) c.5477A>T (p.Gln1826Leu) | |
| 5 | g.37052407A= | CA1539572148 | NIPBL | c.7104A= (p.Gln2368=) n.986A= c.1-12171A= (n.1-12171A=) c.6360A= (p.Gln2120=) c.6906A= (p.Gln2302=) c.6723A= (p.Gln2241=) c.6444A= (p.Gln2148=) c.5487A= (p.Gln1829=) c.5478A= (p.Gln1826=) | |
| 5 | g.37052407A>C | CA359511210 | NIPBL | c.7104A>C (p.Gln2368His) n.986A>C c.1-12171A>C (n.1-12171A>C) c.6360A>C (p.Gln2120His) c.6906A>C (p.Gln2302His) c.6723A>C (p.Gln2241His) c.6444A>C (p.Gln2148His) c.5487A>C (p.Gln1829His) c.5478A>C (p.Gln1826His) | |
| 5 | g.37052407A>G | CA443911439 | NIPBL | c.7104A>G (p.Gln2368=) n.986A>G c.1-12171A>G (n.1-12171A>G) c.6360A>G (p.Gln2120=) c.6906A>G (p.Gln2302=) c.6723A>G (p.Gln2241=) c.6444A>G (p.Gln2148=) c.5487A>G (p.Gln1829=) c.5478A>G (p.Gln1826=) | dbSNP gnomAD v4 |
| 5 | g.37052407A>T | CA359511212 | NIPBL | c.7104A>T (p.Gln2368His) n.986A>T c.1-12171A>T (n.1-12171A>T) c.6360A>T (p.Gln2120His) c.6906A>T (p.Gln2302His) c.6723A>T (p.Gln2241His) c.6444A>T (p.Gln2148His) c.5487A>T (p.Gln1829His) c.5478A>T (p.Gln1826His) | |
| 5 | g.37052408C>A | CA359511213 | NIPBL | c.7105C>A (p.Gln2369Lys) n.987C>A c.1-12170C>A (n.1-12170C>A) c.6361C>A (p.Gln2121Lys) c.6907C>A (p.Gln2303Lys) c.6724C>A (p.Gln2242Lys) c.6445C>A (p.Gln2149Lys) c.5488C>A (p.Gln1830Lys) c.5479C>A (p.Gln1827Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37052408C= | CA1539572152 | NIPBL | c.7105C= (p.Gln2369=) n.987C= c.1-12170C= (n.1-12170C=) c.6361C= (p.Gln2121=) c.6907C= (p.Gln2303=) c.6724C= (p.Gln2242=) c.6445C= (p.Gln2149=) c.5488C= (p.Gln1830=) c.5479C= (p.Gln1827=) | |
| 5 | g.37052408C>G | CA359511215 | NIPBL | c.7105C>G (p.Gln2369Glu) n.987C>G c.1-12170C>G (n.1-12170C>G) c.6361C>G (p.Gln2121Glu) c.6907C>G (p.Gln2303Glu) c.6724C>G (p.Gln2242Glu) c.6445C>G (p.Gln2149Glu) c.5488C>G (p.Gln1830Glu) c.5479C>G (p.Gln1827Glu) | |
| 5 | g.37052408C>T | CA359511216 | NIPBL | c.7105C>T (p.Gln2369Ter) n.987C>T c.1-12170C>T (n.1-12170C>T) c.6361C>T (p.Gln2121Ter) c.6907C>T (p.Gln2303Ter) c.6724C>T (p.Gln2242Ter) c.6445C>T (p.Gln2149Ter) c.5488C>T (p.Gln1830Ter) c.5479C>T (p.Gln1827Ter) | |
| 5 | g.37052408_37052409delinsCA | CA1539572154 | NIPBL | c.7105_7106delinsCA (p.Gln2369=) n.987_988delinsCA c.1-12170_1-12169delinsCA (n.1-12170_1-12169delinsCA) c.6361_6362delinsCA (p.Gln2121=) c.6907_6908delinsCA (p.Gln2303=) c.6724_6725delinsCA (p.Gln2242=) c.6445_6446delinsCA (p.Gln2149=) c.5488_5489delinsCA (p.Gln1830=) c.5479_5480delinsCA (p.Gln1827=) | |
| 5 | g.37052409del | CA272288 | NIPBL | c.7106del (p.Gln2369ArgfsTer7) n.988del c.1-12169del (n.1-12169del) c.6362del (p.Gln2121ArgfsTer7) c.6908del (p.Gln2303ArgfsTer7) c.6725del (p.Gln2242ArgfsTer7) c.6446del (p.Gln2149ArgfsTer7) c.5489del (p.Gln1830ArgfsTer7) c.5480del (p.Gln1827ArgfsTer7) | ClinVar dbSNP |
| 5 | g.37052409A>C | CA359511224 | NIPBL | c.7106A>C (p.Gln2369Pro) n.988A>C c.1-12169A>C (n.1-12169A>C) c.6362A>C (p.Gln2121Pro) c.6908A>C (p.Gln2303Pro) c.6725A>C (p.Gln2242Pro) c.6446A>C (p.Gln2149Pro) c.5489A>C (p.Gln1830Pro) c.5480A>C (p.Gln1827Pro) | |
| 5 | g.37052409A>G | CA359511228 | NIPBL | c.7106A>G (p.Gln2369Arg) n.988A>G c.1-12169A>G (n.1-12169A>G) c.6362A>G (p.Gln2121Arg) c.6908A>G (p.Gln2303Arg) c.6725A>G (p.Gln2242Arg) c.6446A>G (p.Gln2149Arg) c.5489A>G (p.Gln1830Arg) c.5480A>G (p.Gln1827Arg) | |
| 5 | g.37052409A>T | CA359511230 | NIPBL | c.7106A>T (p.Gln2369Leu) n.988A>T c.1-12169A>T (n.1-12169A>T) c.6362A>T (p.Gln2121Leu) c.6908A>T (p.Gln2303Leu) c.6725A>T (p.Gln2242Leu) c.6446A>T (p.Gln2149Leu) c.5489A>T (p.Gln1830Leu) c.5480A>T (p.Gln1827Leu) | |
| 5 | g.37052410G>A | CA443911457 | NIPBL | c.7107G>A (p.Gln2369=) n.989G>A c.1-12168G>A (n.1-12168G>A) c.6363G>A (p.Gln2121=) c.6909G>A (p.Gln2303=) c.6726G>A (p.Gln2242=) c.6447G>A (p.Gln2149=) c.5490G>A (p.Gln1830=) c.5481G>A (p.Gln1827=) | |
| 5 | g.37052410G>C | CA359511231 | NIPBL | c.7107G>C (p.Gln2369His) n.989G>C c.1-12168G>C (n.1-12168G>C) c.6363G>C (p.Gln2121His) c.6909G>C (p.Gln2303His) c.6726G>C (p.Gln2242His) c.6447G>C (p.Gln2149His) c.5490G>C (p.Gln1830His) c.5481G>C (p.Gln1827His) | |
| 5 | g.37052410G>T | CA359511232 | NIPBL | c.7107G>T (p.Gln2369His) n.989G>T c.1-12168G>T (n.1-12168G>T) c.6363G>T (p.Gln2121His) c.6909G>T (p.Gln2303His) c.6726G>T (p.Gln2242His) c.6447G>T (p.Gln2149His) c.5490G>T (p.Gln1830His) c.5481G>T (p.Gln1827His) | |
| 5 | g.37052411G>A | CA359511234 | NIPBL | c.7108G>A (p.Ala2370Thr) n.990G>A c.1-12167G>A (n.1-12167G>A) c.6364G>A (p.Ala2122Thr) c.6910G>A (p.Ala2304Thr) c.6727G>A (p.Ala2243Thr) c.6448G>A (p.Ala2150Thr) c.5491G>A (p.Ala1831Thr) c.5482G>A (p.Ala1828Thr) | |
| 5 | g.37052411G>C | CA359511237 | NIPBL | c.7108G>C (p.Ala2370Pro) n.990G>C c.1-12167G>C (n.1-12167G>C) c.6364G>C (p.Ala2122Pro) c.6910G>C (p.Ala2304Pro) c.6727G>C (p.Ala2243Pro) c.6448G>C (p.Ala2150Pro) c.5491G>C (p.Ala1831Pro) c.5482G>C (p.Ala1828Pro) | |
| 5 | g.37052411G>T | CA359511239 | NIPBL | c.7108G>T (p.Ala2370Ser) n.990G>T c.1-12167G>T (n.1-12167G>T) c.6364G>T (p.Ala2122Ser) c.6910G>T (p.Ala2304Ser) c.6727G>T (p.Ala2243Ser) c.6448G>T (p.Ala2150Ser) c.5491G>T (p.Ala1831Ser) c.5482G>T (p.Ala1828Ser) | gnomAD v4 |
| 5 | g.37052412C>A | CA359511240 | NIPBL | c.7109C>A (p.Ala2370Glu) n.991C>A c.1-12166C>A (n.1-12166C>A) c.6365C>A (p.Ala2122Glu) c.6911C>A (p.Ala2304Glu) c.6728C>A (p.Ala2243Glu) c.6449C>A (p.Ala2150Glu) c.5492C>A (p.Ala1831Glu) c.5483C>A (p.Ala1828Glu) | |
| 5 | g.37052412C>G | CA359511242 | NIPBL | c.7109C>G (p.Ala2370Gly) n.991C>G c.1-12166C>G (n.1-12166C>G) c.6365C>G (p.Ala2122Gly) c.6911C>G (p.Ala2304Gly) c.6728C>G (p.Ala2243Gly) c.6449C>G (p.Ala2150Gly) c.5492C>G (p.Ala1831Gly) c.5483C>G (p.Ala1828Gly) | |
| 5 | g.37052412C>T | CA359511245 | NIPBL | c.7109C>T (p.Ala2370Val) n.991C>T c.1-12166C>T (n.1-12166C>T) c.6365C>T (p.Ala2122Val) c.6911C>T (p.Ala2304Val) c.6728C>T (p.Ala2243Val) c.6449C>T (p.Ala2150Val) c.5492C>T (p.Ala1831Val) c.5483C>T (p.Ala1828Val) | |
| 5 | g.37052413A>C | CA443911476 | NIPBL | c.7110A>C (p.Ala2370=) n.992A>C c.1-12165A>C (n.1-12165A>C) c.6366A>C (p.Ala2122=) c.6912A>C (p.Ala2304=) c.6729A>C (p.Ala2243=) c.6450A>C (p.Ala2150=) c.5493A>C (p.Ala1831=) c.5484A>C (p.Ala1828=) | |
| 5 | g.37052413A>G | CA443911478 | NIPBL | c.7110A>G (p.Ala2370=) n.992A>G c.1-12165A>G (n.1-12165A>G) c.6366A>G (p.Ala2122=) c.6912A>G (p.Ala2304=) c.6729A>G (p.Ala2243=) c.6450A>G (p.Ala2150=) c.5493A>G (p.Ala1831=) c.5484A>G (p.Ala1828=) | gnomAD v4 |
| 5 | g.37052413A>T | CA443911474 | NIPBL | c.7110A>T (p.Ala2370=) n.992A>T c.1-12165A>T (n.1-12165A>T) c.6366A>T (p.Ala2122=) c.6912A>T (p.Ala2304=) c.6729A>T (p.Ala2243=) c.6450A>T (p.Ala2150=) c.5493A>T (p.Ala1831=) c.5484A>T (p.Ala1828=) | |
| 5 | g.37052414A= | CA1539572167 | NIPBL | c.7111A= (p.Ile2371=) n.993A= c.1-12164A= (n.1-12164A=) c.6367A= (p.Ile2123=) c.6913A= (p.Ile2305=) c.6730A= (p.Ile2244=) c.6451A= (p.Ile2151=) c.5494A= (p.Ile1832=) c.5485A= (p.Ile1829=) | |
| 5 | g.37052414A>C | CA359511248 | NIPBL | c.7111A>C (p.Ile2371Leu) n.993A>C c.1-12164A>C (n.1-12164A>C) c.6367A>C (p.Ile2123Leu) c.6913A>C (p.Ile2305Leu) c.6730A>C (p.Ile2244Leu) c.6451A>C (p.Ile2151Leu) c.5494A>C (p.Ile1832Leu) c.5485A>C (p.Ile1829Leu) | |
| 5 | g.37052414A>G | CA3237140 | NIPBL | c.7111A>G (p.Ile2371Val) n.993A>G c.1-12164A>G (n.1-12164A>G) c.6367A>G (p.Ile2123Val) c.6913A>G (p.Ile2305Val) c.6730A>G (p.Ile2244Val) c.6451A>G (p.Ile2151Val) c.5494A>G (p.Ile1832Val) c.5485A>G (p.Ile1829Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.37052414A>T | CA359511250 | NIPBL | c.7111A>T (p.Ile2371Phe) n.993A>T c.1-12164A>T (n.1-12164A>T) c.6367A>T (p.Ile2123Phe) c.6913A>T (p.Ile2305Phe) c.6730A>T (p.Ile2244Phe) c.6451A>T (p.Ile2151Phe) c.5494A>T (p.Ile1832Phe) c.5485A>T (p.Ile1829Phe) | |
| 5 | g.37052415T>A | CA359511254 | NIPBL | c.7112T>A (p.Ile2371Asn) n.994T>A c.1-12163T>A (n.1-12163T>A) c.6368T>A (p.Ile2123Asn) c.6914T>A (p.Ile2305Asn) c.6731T>A (p.Ile2244Asn) c.6452T>A (p.Ile2151Asn) c.5495T>A (p.Ile1832Asn) c.5486T>A (p.Ile1829Asn) | |
| 5 | g.37052415T>C | CA359511251 | NIPBL | c.7112T>C (p.Ile2371Thr) n.994T>C c.1-12163T>C (n.1-12163T>C) c.6368T>C (p.Ile2123Thr) c.6914T>C (p.Ile2305Thr) c.6731T>C (p.Ile2244Thr) c.6452T>C (p.Ile2151Thr) c.5495T>C (p.Ile1832Thr) c.5486T>C (p.Ile1829Thr) | |
| 5 | g.37052415T>G | CA359511253 | NIPBL | c.7112T>G (p.Ile2371Ser) n.994T>G c.1-12163T>G (n.1-12163T>G) c.6368T>G (p.Ile2123Ser) c.6914T>G (p.Ile2305Ser) c.6731T>G (p.Ile2244Ser) c.6452T>G (p.Ile2151Ser) c.5495T>G (p.Ile1832Ser) c.5486T>G (p.Ile1829Ser) | |
| 5 | g.37052416C>A | CA443911491 | NIPBL | c.7113C>A (p.Ile2371=) n.995C>A c.1-12162C>A (n.1-12162C>A) c.6369C>A (p.Ile2123=) c.6915C>A (p.Ile2305=) c.6732C>A (p.Ile2244=) c.6453C>A (p.Ile2151=) c.5496C>A (p.Ile1832=) c.5487C>A (p.Ile1829=) | COSMIC COSMIC |
| 5 | g.37052416C= | CA1539572170 | NIPBL | c.7113C= (p.Ile2371=) n.995C= c.1-12162C= (n.1-12162C=) c.6369C= (p.Ile2123=) c.6915C= (p.Ile2305=) c.6732C= (p.Ile2244=) c.6453C= (p.Ile2151=) c.5496C= (p.Ile1832=) c.5487C= (p.Ile1829=) | |
| 5 | g.37052416C>G | CA359511255 | NIPBL | c.7113C>G (p.Ile2371Met) n.995C>G c.1-12162C>G (n.1-12162C>G) c.6369C>G (p.Ile2123Met) c.6915C>G (p.Ile2305Met) c.6732C>G (p.Ile2244Met) c.6453C>G (p.Ile2151Met) c.5496C>G (p.Ile1832Met) c.5487C>G (p.Ile1829Met) | |
| 5 | g.37052416C>T | CA443911494 | NIPBL | c.7113C>T (p.Ile2371=) n.995C>T c.1-12162C>T (n.1-12162C>T) c.6369C>T (p.Ile2123=) c.6915C>T (p.Ile2305=) c.6732C>T (p.Ile2244=) c.6453C>T (p.Ile2151=) c.5496C>T (p.Ile1832=) c.5487C>T (p.Ile1829=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37052417A>C | CA359511258 | NIPBL | c.7114A>C (p.Asn2372His) n.996A>C c.1-12161A>C (n.1-12161A>C) c.6370A>C (p.Asn2124His) c.6916A>C (p.Asn2306His) c.6733A>C (p.Asn2245His) c.6454A>C (p.Asn2152His) c.5497A>C (p.Asn1833His) c.5488A>C (p.Asn1830His) | |
| 5 | g.37052417A>G | CA359511261 | NIPBL | c.7114A>G (p.Asn2372Asp) n.996A>G c.1-12161A>G (n.1-12161A>G) c.6370A>G (p.Asn2124Asp) c.6916A>G (p.Asn2306Asp) c.6733A>G (p.Asn2245Asp) c.6454A>G (p.Asn2152Asp) c.5497A>G (p.Asn1833Asp) c.5488A>G (p.Asn1830Asp) | |
| 5 | g.37052417A>T | CA359511262 | NIPBL | c.7114A>T (p.Asn2372Tyr) n.996A>T c.1-12161A>T (n.1-12161A>T) c.6370A>T (p.Asn2124Tyr) c.6916A>T (p.Asn2306Tyr) c.6733A>T (p.Asn2245Tyr) c.6454A>T (p.Asn2152Tyr) c.5497A>T (p.Asn1833Tyr) c.5488A>T (p.Asn1830Tyr) | |
| 5 | g.37052418A>C | CA359511265 | NIPBL | c.7115A>C (p.Asn2372Thr) n.997A>C c.1-12160A>C (n.1-12160A>C) c.6371A>C (p.Asn2124Thr) c.6917A>C (p.Asn2306Thr) c.6734A>C (p.Asn2245Thr) c.6455A>C (p.Asn2152Thr) c.5498A>C (p.Asn1833Thr) c.5489A>C (p.Asn1830Thr) | |
| 5 | g.37052418A>G | CA359511266 | NIPBL | c.7115A>G (p.Asn2372Ser) n.997A>G c.1-12160A>G (n.1-12160A>G) c.6371A>G (p.Asn2124Ser) c.6917A>G (p.Asn2306Ser) c.6734A>G (p.Asn2245Ser) c.6455A>G (p.Asn2152Ser) c.5498A>G (p.Asn1833Ser) c.5489A>G (p.Asn1830Ser) | |
| 5 | g.37052418A>T | CA359511268 | NIPBL | c.7115A>T (p.Asn2372Ile) n.997A>T c.1-12160A>T (n.1-12160A>T) c.6371A>T (p.Asn2124Ile) c.6917A>T (p.Asn2306Ile) c.6734A>T (p.Asn2245Ile) c.6455A>T (p.Asn2152Ile) c.5498A>T (p.Asn1833Ile) c.5489A>T (p.Asn1830Ile) |