WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000840_37000844del | CA272070 | NIPBL | c.3526_3530del (p.Glu1176ThrfsTer8) c.1-63738_1-63734del (n.1-63738_1-63734del) c.2782_2786del (p.Glu928ThrfsTer8) c.3328_3332del (p.Glu1110ThrfsTer8) c.3145_3149del (p.Glu1049ThrfsTer8) c.2866_2870del (p.Glu956ThrfsTer8) c.1909_1913del (p.Glu637ThrfsTer8) c.1900_1904del (p.Glu634ThrfsTer8) | ClinVar dbSNP |
| 5 | g.37000846_37000855del | CA2673574834 | NIPBL | c.3532_3541del (p.Gln1178GlyfsTer8) c.1-63732_1-63723del (n.1-63732_1-63723del) c.2788_2797del (p.Gln930GlyfsTer8) c.3334_3343del (p.Gln1112GlyfsTer8) c.3151_3160del (p.Gln1051GlyfsTer8) c.2872_2881del (p.Gln958GlyfsTer8) c.1915_1924del (p.Gln639GlyfsTer8) c.1906_1915del (p.Gln636GlyfsTer8) | gnomAD v4 |
| 5 | g.37000843A>C | CA359518119 | NIPBL | c.3529A>C (p.Lys1177Gln) c.1-63735A>C (n.1-63735A>C) c.2785A>C (p.Lys929Gln) c.3331A>C (p.Lys1111Gln) c.3148A>C (p.Lys1050Gln) c.2869A>C (p.Lys957Gln) c.1912A>C (p.Lys638Gln) c.1903A>C (p.Lys635Gln) | |
| 5 | g.37000843A>G | CA359518121 | NIPBL | c.3529A>G (p.Lys1177Glu) c.1-63735A>G (n.1-63735A>G) c.2785A>G (p.Lys929Glu) c.3331A>G (p.Lys1111Glu) c.3148A>G (p.Lys1050Glu) c.2869A>G (p.Lys957Glu) c.1912A>G (p.Lys638Glu) c.1903A>G (p.Lys635Glu) | |
| 5 | g.37000843A>T | CA359518123 | NIPBL | c.3529A>T (p.Lys1177Ter) c.1-63735A>T (n.1-63735A>T) c.2785A>T (p.Lys929Ter) c.3331A>T (p.Lys1111Ter) c.3148A>T (p.Lys1050Ter) c.2869A>T (p.Lys957Ter) c.1912A>T (p.Lys638Ter) c.1903A>T (p.Lys635Ter) | |
| 5 | g.37000844A>C | CA359518126 | NIPBL | c.3530A>C (p.Lys1177Thr) c.1-63734A>C (n.1-63734A>C) c.2786A>C (p.Lys929Thr) c.3332A>C (p.Lys1111Thr) c.3149A>C (p.Lys1050Thr) c.2870A>C (p.Lys957Thr) c.1913A>C (p.Lys638Thr) c.1904A>C (p.Lys635Thr) | |
| 5 | g.37000844A>G | CA359518130 | NIPBL | c.3530A>G (p.Lys1177Arg) c.1-63734A>G (n.1-63734A>G) c.2786A>G (p.Lys929Arg) c.3332A>G (p.Lys1111Arg) c.3149A>G (p.Lys1050Arg) c.2870A>G (p.Lys957Arg) c.1913A>G (p.Lys638Arg) c.1904A>G (p.Lys635Arg) | ClinVar |
| 5 | g.37000844A>T | CA359518128 | NIPBL | c.3530A>T (p.Lys1177Ile) c.1-63734A>T (n.1-63734A>T) c.2786A>T (p.Lys929Ile) c.3332A>T (p.Lys1111Ile) c.3149A>T (p.Lys1050Ile) c.2870A>T (p.Lys957Ile) c.1913A>T (p.Lys638Ile) c.1904A>T (p.Lys635Ile) | |
| 5 | g.37000845A>C | CA359518134 | NIPBL | c.3531A>C (p.Lys1177Asn) c.1-63733A>C (n.1-63733A>C) c.2787A>C (p.Lys929Asn) c.3333A>C (p.Lys1111Asn) c.3150A>C (p.Lys1050Asn) c.2871A>C (p.Lys957Asn) c.1914A>C (p.Lys638Asn) c.1905A>C (p.Lys635Asn) | |
| 5 | g.37000845A>G | CA443904505 | NIPBL | c.3531A>G (p.Lys1177=) c.1-63733A>G (n.1-63733A>G) c.2787A>G (p.Lys929=) c.3333A>G (p.Lys1111=) c.3150A>G (p.Lys1050=) c.2871A>G (p.Lys957=) c.1914A>G (p.Lys638=) c.1905A>G (p.Lys635=) | |
| 5 | g.37000845A>T | CA359518136 | NIPBL | c.3531A>T (p.Lys1177Asn) c.1-63733A>T (n.1-63733A>T) c.2787A>T (p.Lys929Asn) c.3333A>T (p.Lys1111Asn) c.3150A>T (p.Lys1050Asn) c.2871A>T (p.Lys957Asn) c.1914A>T (p.Lys638Asn) c.1905A>T (p.Lys635Asn) | |
| 5 | g.37000846C>A | CA359518139 | NIPBL | c.3532C>A (p.Gln1178Lys) c.1-63732C>A (n.1-63732C>A) c.2788C>A (p.Gln930Lys) c.3334C>A (p.Gln1112Lys) c.3151C>A (p.Gln1051Lys) c.2872C>A (p.Gln958Lys) c.1915C>A (p.Gln639Lys) c.1906C>A (p.Gln636Lys) | |
| 5 | g.37000846C>G | CA359518142 | NIPBL | c.3532C>G (p.Gln1178Glu) c.1-63732C>G (n.1-63732C>G) c.2788C>G (p.Gln930Glu) c.3334C>G (p.Gln1112Glu) c.3151C>G (p.Gln1051Glu) c.2872C>G (p.Gln958Glu) c.1915C>G (p.Gln639Glu) c.1906C>G (p.Gln636Glu) | |
| 5 | g.37000846C>T | CA359518143 | NIPBL | c.3532C>T (p.Gln1178Ter) c.1-63732C>T (n.1-63732C>T) c.2788C>T (p.Gln930Ter) c.3334C>T (p.Gln1112Ter) c.3151C>T (p.Gln1051Ter) c.2872C>T (p.Gln958Ter) c.1915C>T (p.Gln639Ter) c.1906C>T (p.Gln636Ter) | |
| 5 | g.37000846_37000848delinsCAG | CA1539601325 | NIPBL | c.3532_3534delinsCAG (p.Gln1178=) c.1-63732_1-63730delinsCAG (n.1-63732_1-63730delinsCAG) c.2788_2790delinsCAG (p.Gln930=) c.3334_3336delinsCAG (p.Gln1112=) c.3151_3153delinsCAG (p.Gln1051=) c.2872_2874delinsCAG (p.Gln958=) c.1915_1917delinsCAG (p.Gln639=) c.1906_1908delinsCAG (p.Gln636=) | |
| 5 | g.37000847A= | CA1539601331 | NIPBL | c.3533A= (p.Gln1178=) c.1-63731A= (n.1-63731A=) c.2789A= (p.Gln930=) c.3335A= (p.Gln1112=) c.3152A= (p.Gln1051=) c.2873A= (p.Gln958=) c.1916A= (p.Gln639=) c.1907A= (p.Gln636=) | |
| 5 | g.37000847A>C | CA359518147 | NIPBL | c.3533A>C (p.Gln1178Pro) c.1-63731A>C (n.1-63731A>C) c.2789A>C (p.Gln930Pro) c.3335A>C (p.Gln1112Pro) c.3152A>C (p.Gln1051Pro) c.2873A>C (p.Gln958Pro) c.1916A>C (p.Gln639Pro) c.1907A>C (p.Gln636Pro) | |
| 5 | g.37000847A>G | CA3236362 | NIPBL | c.3533A>G (p.Gln1178Arg) c.1-63731A>G (n.1-63731A>G) c.2789A>G (p.Gln930Arg) c.3335A>G (p.Gln1112Arg) c.3152A>G (p.Gln1051Arg) c.2873A>G (p.Gln958Arg) c.1916A>G (p.Gln639Arg) c.1907A>G (p.Gln636Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000847A>T | CA359518150 | NIPBL | c.3533A>T (p.Gln1178Leu) c.1-63731A>T (n.1-63731A>T) c.2789A>T (p.Gln930Leu) c.3335A>T (p.Gln1112Leu) c.3152A>T (p.Gln1051Leu) c.2873A>T (p.Gln958Leu) c.1916A>T (p.Gln639Leu) c.1907A>T (p.Gln636Leu) | |
| 5 | g.37000848_37000849del | CA1139658781 | NIPBL | c.3534_3535del (p.Lys1179GlufsTer6) c.1-63730_1-63729del (n.1-63730_1-63729del) c.2790_2791del (p.Lys931GlufsTer6) c.3336_3337del (p.Lys1113GlufsTer6) c.3153_3154del (p.Lys1052GlufsTer6) c.2874_2875del (p.Lys959GlufsTer6) c.1917_1918del (p.Lys640GlufsTer6) c.1908_1909del (p.Lys637GlufsTer6) | ClinVar dbSNP |
| 5 | g.37000848G>A | CA443904508 | NIPBL | c.3534G>A (p.Gln1178=) c.1-63730G>A (n.1-63730G>A) c.2790G>A (p.Gln930=) c.3336G>A (p.Gln1112=) c.3153G>A (p.Gln1051=) c.2874G>A (p.Gln958=) c.1917G>A (p.Gln639=) c.1908G>A (p.Gln636=) | |
| 5 | g.37000848G>C | CA359518152 | NIPBL | c.3534G>C (p.Gln1178His) c.1-63730G>C (n.1-63730G>C) c.2790G>C (p.Gln930His) c.3336G>C (p.Gln1112His) c.3153G>C (p.Gln1051His) c.2874G>C (p.Gln958His) c.1917G>C (p.Gln639His) c.1908G>C (p.Gln636His) | |
| 5 | g.37000848G>T | CA359518154 | NIPBL | c.3534G>T (p.Gln1178His) c.1-63730G>T (n.1-63730G>T) c.2790G>T (p.Gln930His) c.3336G>T (p.Gln1112His) c.3153G>T (p.Gln1051His) c.2874G>T (p.Gln958His) c.1917G>T (p.Gln639His) c.1908G>T (p.Gln636His) | |
| 5 | g.37000849A= | CA1539601335 | NIPBL | c.3535A= (p.Lys1179=) c.1-63729A= (n.1-63729A=) c.2791A= (p.Lys931=) c.3337A= (p.Lys1113=) c.3154A= (p.Lys1052=) c.2875A= (p.Lys959=) c.1918A= (p.Lys640=) c.1909A= (p.Lys637=) | |
| 5 | g.37000849A>C | CA359518162 | NIPBL | c.3535A>C (p.Lys1179Gln) c.1-63729A>C (n.1-63729A>C) c.2791A>C (p.Lys931Gln) c.3337A>C (p.Lys1113Gln) c.3154A>C (p.Lys1052Gln) c.2875A>C (p.Lys959Gln) c.1918A>C (p.Lys640Gln) c.1909A>C (p.Lys637Gln) | |
| 5 | g.37000849A>G | CA359518160 | NIPBL | c.3535A>G (p.Lys1179Glu) c.1-63729A>G (n.1-63729A>G) c.2791A>G (p.Lys931Glu) c.3337A>G (p.Lys1113Glu) c.3154A>G (p.Lys1052Glu) c.2875A>G (p.Lys959Glu) c.1918A>G (p.Lys640Glu) c.1909A>G (p.Lys637Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000849A>T | CA359518158 | NIPBL | c.3535A>T (p.Lys1179Ter) c.1-63729A>T (n.1-63729A>T) c.2791A>T (p.Lys931Ter) c.3337A>T (p.Lys1113Ter) c.3154A>T (p.Lys1052Ter) c.2875A>T (p.Lys959Ter) c.1918A>T (p.Lys640Ter) c.1909A>T (p.Lys637Ter) | |
| 5 | g.37000850A>C | CA359518166 | NIPBL | c.3536A>C (p.Lys1179Thr) c.1-63728A>C (n.1-63728A>C) c.2792A>C (p.Lys931Thr) c.3338A>C (p.Lys1113Thr) c.3155A>C (p.Lys1052Thr) c.2876A>C (p.Lys959Thr) c.1919A>C (p.Lys640Thr) c.1910A>C (p.Lys637Thr) | |
| 5 | g.37000850A>G | CA359518170 | NIPBL | c.3536A>G (p.Lys1179Arg) c.1-63728A>G (n.1-63728A>G) c.2792A>G (p.Lys931Arg) c.3338A>G (p.Lys1113Arg) c.3155A>G (p.Lys1052Arg) c.2876A>G (p.Lys959Arg) c.1919A>G (p.Lys640Arg) c.1910A>G (p.Lys637Arg) | |
| 5 | g.37000850A>T | CA359518168 | NIPBL | c.3536A>T (p.Lys1179Met) c.1-63728A>T (n.1-63728A>T) c.2792A>T (p.Lys931Met) c.3338A>T (p.Lys1113Met) c.3155A>T (p.Lys1052Met) c.2876A>T (p.Lys959Met) c.1919A>T (p.Lys640Met) c.1910A>T (p.Lys637Met) | |
| 5 | g.37000851G>A | CA3236363 | NIPBL | c.3537G>A (p.Lys1179=) c.1-63727G>A (n.1-63727G>A) c.2793G>A (p.Lys931=) c.3339G>A (p.Lys1113=) c.3156G>A (p.Lys1052=) c.2877G>A (p.Lys959=) c.1920G>A (p.Lys640=) c.1911G>A (p.Lys637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000851G>C | CA359518174 | NIPBL | c.3537G>C (p.Lys1179Asn) c.1-63727G>C (n.1-63727G>C) c.2793G>C (p.Lys931Asn) c.3339G>C (p.Lys1113Asn) c.3156G>C (p.Lys1052Asn) c.2877G>C (p.Lys959Asn) c.1920G>C (p.Lys640Asn) c.1911G>C (p.Lys637Asn) | |
| 5 | g.37000851G= | CA1539601337 | NIPBL | c.3537G= (p.Lys1179=) c.1-63727G= (n.1-63727G=) c.2793G= (p.Lys931=) c.3339G= (p.Lys1113=) c.3156G= (p.Lys1052=) c.2877G= (p.Lys959=) c.1920G= (p.Lys640=) c.1911G= (p.Lys637=) | |
| 5 | g.37000851G>T | CA359518176 | NIPBL | c.3537G>T (p.Lys1179Asn) c.1-63727G>T (n.1-63727G>T) c.2793G>T (p.Lys931Asn) c.3339G>T (p.Lys1113Asn) c.3156G>T (p.Lys1052Asn) c.2877G>T (p.Lys959Asn) c.1920G>T (p.Lys640Asn) c.1911G>T (p.Lys637Asn) | |
| 5 | g.37000852A>C | CA359518191 | NIPBL | c.3538A>C (p.Lys1180Gln) c.1-63726A>C (n.1-63726A>C) c.2794A>C (p.Lys932Gln) c.3340A>C (p.Lys1114Gln) c.3157A>C (p.Lys1053Gln) c.2878A>C (p.Lys960Gln) c.1921A>C (p.Lys641Gln) c.1912A>C (p.Lys638Gln) | |
| 5 | g.37000852A>G | CA359518203 | NIPBL | c.3538A>G (p.Lys1180Glu) c.1-63726A>G (n.1-63726A>G) c.2794A>G (p.Lys932Glu) c.3340A>G (p.Lys1114Glu) c.3157A>G (p.Lys1053Glu) c.2878A>G (p.Lys960Glu) c.1921A>G (p.Lys641Glu) c.1912A>G (p.Lys638Glu) | |
| 5 | g.37000852A>T | CA359518205 | NIPBL | c.3538A>T (p.Lys1180Ter) c.1-63726A>T (n.1-63726A>T) c.2794A>T (p.Lys932Ter) c.3340A>T (p.Lys1114Ter) c.3157A>T (p.Lys1053Ter) c.2878A>T (p.Lys960Ter) c.1921A>T (p.Lys641Ter) c.1912A>T (p.Lys638Ter) | |
| 5 | g.37000853A= | CA1539601342 | NIPBL | c.3539A= (p.Lys1180=) c.1-63725A= (n.1-63725A=) c.2795A= (p.Lys932=) c.3341A= (p.Lys1114=) c.3158A= (p.Lys1053=) c.2879A= (p.Lys960=) c.1922A= (p.Lys641=) c.1913A= (p.Lys638=) | |
| 5 | g.37000853A>C | CA359518209 | NIPBL | c.3539A>C (p.Lys1180Thr) c.1-63725A>C (n.1-63725A>C) c.2795A>C (p.Lys932Thr) c.3341A>C (p.Lys1114Thr) c.3158A>C (p.Lys1053Thr) c.2879A>C (p.Lys960Thr) c.1922A>C (p.Lys641Thr) c.1913A>C (p.Lys638Thr) | |
| 5 | g.37000853A>G | CA359518218 | NIPBL | c.3539A>G (p.Lys1180Arg) c.1-63725A>G (n.1-63725A>G) c.2795A>G (p.Lys932Arg) c.3341A>G (p.Lys1114Arg) c.3158A>G (p.Lys1053Arg) c.2879A>G (p.Lys960Arg) c.1922A>G (p.Lys641Arg) c.1913A>G (p.Lys638Arg) | dbSNP |
| 5 | g.37000853A>T | CA359518222 | NIPBL | c.3539A>T (p.Lys1180Ile) c.1-63725A>T (n.1-63725A>T) c.2795A>T (p.Lys932Ile) c.3341A>T (p.Lys1114Ile) c.3158A>T (p.Lys1053Ile) c.2879A>T (p.Lys960Ile) c.1922A>T (p.Lys641Ile) c.1913A>T (p.Lys638Ile) | |
| 5 | g.37000854A>C | CA359518225 | NIPBL | c.3540A>C (p.Lys1180Asn) c.1-63724A>C (n.1-63724A>C) c.2796A>C (p.Lys932Asn) c.3342A>C (p.Lys1114Asn) c.3159A>C (p.Lys1053Asn) c.2880A>C (p.Lys960Asn) c.1923A>C (p.Lys641Asn) c.1914A>C (p.Lys638Asn) | |
| 5 | g.37000854A>G | CA443904512 | NIPBL | c.3540A>G (p.Lys1180=) c.1-63724A>G (n.1-63724A>G) c.2796A>G (p.Lys932=) c.3342A>G (p.Lys1114=) c.3159A>G (p.Lys1053=) c.2880A>G (p.Lys960=) c.1923A>G (p.Lys641=) c.1914A>G (p.Lys638=) | ClinVar |
| 5 | g.37000854A>T | CA359518228 | NIPBL | c.3540A>T (p.Lys1180Asn) c.1-63724A>T (n.1-63724A>T) c.2796A>T (p.Lys932Asn) c.3342A>T (p.Lys1114Asn) c.3159A>T (p.Lys1053Asn) c.2880A>T (p.Lys960Asn) c.1923A>T (p.Lys641Asn) c.1914A>T (p.Lys638Asn) | |
| 5 | g.37000855A= | CA1539601347 | NIPBL | c.3541A= (p.Arg1181=) c.1-63723A= (n.1-63723A=) c.2797A= (p.Arg933=) c.3343A= (p.Arg1115=) c.3160A= (p.Arg1054=) c.2881A= (p.Arg961=) c.1924A= (p.Arg642=) c.1915A= (p.Arg639=) | |
| 5 | g.37000855A>C | CA172685 | NIPBL | c.3541A>C (p.Arg1181=) c.1-63723A>C (n.1-63723A>C) c.2797A>C (p.Arg933=) c.3343A>C (p.Arg1115=) c.3160A>C (p.Arg1054=) c.2881A>C (p.Arg961=) c.1924A>C (p.Arg642=) c.1915A>C (p.Arg639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000855A>G | CA359518232 | NIPBL | c.3541A>G (p.Arg1181Gly) c.1-63723A>G (n.1-63723A>G) c.2797A>G (p.Arg933Gly) c.3343A>G (p.Arg1115Gly) c.3160A>G (p.Arg1054Gly) c.2881A>G (p.Arg961Gly) c.1924A>G (p.Arg642Gly) c.1915A>G (p.Arg639Gly) | |
| 5 | g.37000855A>T | CA359518240 | NIPBL | c.3541A>T (p.Arg1181Trp) c.1-63723A>T (n.1-63723A>T) c.2797A>T (p.Arg933Trp) c.3343A>T (p.Arg1115Trp) c.3160A>T (p.Arg1054Trp) c.2881A>T (p.Arg961Trp) c.1924A>T (p.Arg642Trp) c.1915A>T (p.Arg639Trp) | |
| 5 | g.37000856G>A | CA3236364 | NIPBL | c.3542G>A (p.Arg1181Lys) c.1-63722G>A (n.1-63722G>A) c.2798G>A (p.Arg933Lys) c.3344G>A (p.Arg1115Lys) c.3161G>A (p.Arg1054Lys) c.2882G>A (p.Arg961Lys) c.1925G>A (p.Arg642Lys) c.1916G>A (p.Arg639Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000856G>C | CA359518248 | NIPBL | c.3542G>C (p.Arg1181Thr) c.1-63722G>C (n.1-63722G>C) c.2798G>C (p.Arg933Thr) c.3344G>C (p.Arg1115Thr) c.3161G>C (p.Arg1054Thr) c.2882G>C (p.Arg961Thr) c.1925G>C (p.Arg642Thr) c.1916G>C (p.Arg639Thr) |