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 |
|---|---|---|---|---|---|
| 3 | g.10139220_10148953del | CA2499216342 | ClinVar | ||
| 3 | g.10140648_10148414del | CA2499216345 | ClinVar | ||
| 3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
| 3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_*141-1del c.-1_575-1del c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10141848_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10142408_10148376del | CA2499216353 | VHL | c.340+221_*141-1411del c.340+221_600-1411del c.340+221_464-328del c.340+221_464-1411del c.340+221_341-1411del (n.340+221_341-1411del) c.340+221_*18-1411del | ClinVar |
| 3 | g.10142470_10147135del | CA2499216354 | VHL | c.340+283_*140+499del c.340+283_600-2652del c.340+283_463+499del c.340+283_341-2652del (n.340+283_341-2652del) c.340+283_*18-2652del | ClinVar |
| 3 | g.10142494_10148596del | CA2499216355 | VHL | c.341-269_*141-1191del c.341-269_600-1191del c.340+307_464-108del c.340+307_464-1191del c.340+307_341-1191del (n.340+307_341-1191del) c.341-269_*18-1191del | ClinVar |
| 3 | g.10142552_10148878del | CA2499216356 | VHL | c.341-211_*141-909del c.341-211_600-909del c.340+365_574+64del c.340+365_464-909del c.340+365_341-909del (n.340+365_341-909del) c.341-211_*18-909del | ClinVar |
| 3 | g.10142615_10148584del | CA2499216357 | VHL | c.341-148_*141-1203del c.341-148_600-1203del c.340+428_464-120del c.340+428_464-1203del c.340+428_341-1203del (n.340+428_341-1203del) n.70_600-1203del c.341-148_*18-1203del | ClinVar |
| 3 | g.10142631_10148600del | CA2499216358 | VHL | c.341-132_*141-1187del c.341-132_600-1187del c.340+444_464-104del c.340+444_464-1187del c.340+444_341-1187del (n.340+444_341-1187del) n.86_600-1187del c.341-132_*18-1187del | ClinVar |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10143206_10147086del | CA2499216372 | VHL | c.*17+185_*140+450del c.599+185_600-2701del (n.599+185_600-2701del) c.340+1019_463+450del c.340+1019_341-2701del (n.340+1019_341-2701del) n.476+185_599+450del c.*17+185_*18-2701del (n.*17+185_*18-2701del) | ClinVar |
| 3 | g.10143730_10148596del | CA2499216373 | VHL | c.*17+709_*141-1191del c.599+709_600-1191del (n.599+709_600-1191del) c.340+1543_464-108del c.340+1543_464-1191del c.340+1543_341-1191del (n.340+1543_341-1191del) n.476+709_600-1191del c.*17+709_*18-1191del (n.*17+709_*18-1191del) | ClinVar |
| 3 | g.10143767_10148310del | CA2499216374 | VHL | c.*17+746_*141-1477del c.599+746_600-1477del (n.599+746_600-1477del) c.340+1580_464-394del c.340+1580_464-1477del c.340+1580_341-1477del (n.340+1580_341-1477del) n.476+746_600-1477del c.*17+746_*18-1477del (n.*17+746_*18-1477del) | ClinVar |
| 3 | g.10144657_10148459del | CA2499216375 | VHL | c.*17+1636_*141-1328del c.599+1636_600-1328del (n.599+1636_600-1328del) c.341-1857_464-245del c.341-1857_464-1328del c.340+2470_341-1328del (n.340+2470_341-1328del) n.476+1636_600-1328del c.*17+1636_*18-1328del (n.*17+1636_*18-1328del) | ClinVar |
| 3 | g.10144931_10148310del | CA2499216376 | VHL | c.*18-1583_*141-1477del c.599+1910_600-1477del (n.599+1910_600-1477del) c.341-1583_464-394del c.341-1583_464-1477del c.340+2744_341-1477del (n.340+2744_341-1477del) n.477-1583_600-1477del c.*17+1910_*18-1477del (n.*17+1910_*18-1477del) | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145563_10148769del | CA2499216379 | VHL | c.*18-951_*141-1018del c.599+2542_600-1018del (n.599+2542_600-1018del) c.341-951_529del c.341-951_464-1018del c.340+3376_341-1018del (n.340+3376_341-1018del) n.477-951_600-1018del c.*17+2542_*18-1018del (n.*17+2542_*18-1018del) | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146235_10149173del | CA2499216381 | VHL | c.*18-279_*141-614del c.599+3214_600-614del (n.599+3214_600-614del) c.341-279_574+359del c.341-279_464-614del c.341-3552_341-614del (n.341-3552_341-614del) n.477-279_600-614del c.*17+3214_*18-614del (n.*17+3214_*18-614del) | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10146562_10146570dup | CA645524922 | VHL | c.*66_*74dup (n.*66_*74dup) c.600-3225_600-3217dup (n.600-3225_600-3217dup) c.389_397dup (p.Gln132_Thr133insIleAsnGln) c.341-3225_341-3217dup (n.341-3225_341-3217dup) n.525_533dup c.*18-3225_*18-3217dup (n.*18-3225_*18-3217dup) | COSMIC |
| 3 | g.10146566_10146569del | CA645524926 | VHL | c.*70_*73del (n.*70_*73del) c.600-3221_600-3218del (n.600-3221_600-3218del) c.393_396del (p.Asn131LysfsTer?) c.393_396del (p.Asn131LysfsTer27) c.341-3221_341-3218del (n.341-3221_341-3218del) n.529_532del c.*18-3221_*18-3218del (n.*18-3221_*18-3218del) | COSMIC |
| 3 | g.10146564_10146571del | CA645524925 | VHL | c.*68_*75del (n.*68_*75del) c.600-3223_600-3216del (n.600-3223_600-3216del) c.391_398del (p.Asn131Ter) c.341-3223_341-3216del (n.341-3223_341-3216del) n.527_534del c.*18-3223_*18-3216del (n.*18-3223_*18-3216del) | COSMIC |
| 3 | g.10146567_10146571del | CA2586965636 | VHL | c.*71_*75del (n.*71_*75del) c.600-3220_600-3216del (n.600-3220_600-3216del) c.394_398del (p.Gln132Ter) c.341-3220_341-3216del (n.341-3220_341-3216del) n.530_534del c.*18-3220_*18-3216del (n.*18-3220_*18-3216del) | |
| 3 | g.10146565_10146581del | CA645524927 | VHL | c.*69_*85del (n.*69_*85del) c.600-3222_600-3206del (n.600-3222_600-3206del) c.392_408del (p.Asn131SerfsTer7) c.341-3222_341-3206del (n.341-3222_341-3206del) n.528_544del c.*18-3222_*18-3206del (n.*18-3222_*18-3206del) | COSMIC |
| 3 | g.10146566_10146573del | CA645524928 | VHL | c.*70_*77del (n.*70_*77del) c.600-3221_600-3214del (n.600-3221_600-3214del) c.393_400del (p.Asn131LysfsTer10) c.341-3221_341-3214del (n.341-3221_341-3214del) n.529_536del c.*18-3221_*18-3214del (n.*18-3221_*18-3214del) | COSMIC |
| 3 | g.10146570dup | CA645524931 | VHL | c.*74dup (n.*74dup) c.600-3217dup (n.600-3217dup) c.397dup (p.Thr133AsnfsTer2) c.341-3217dup (n.341-3217dup) n.533dup c.*18-3217dup (n.*18-3217dup) | COSMIC |
| 3 | g.10146570del | CA432421843 | VHL | c.*74del (n.*74del) c.600-3217del (n.600-3217del) c.397del (p.Thr133LeufsTer?) c.397del (p.Thr133LeufsTer26) c.341-3217del (n.341-3217del) n.533del c.*18-3217del (n.*18-3217del) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.10146569_10146570del | CA645524930 | VHL | c.*73_*74del (n.*73_*74del) c.600-3218_600-3217del (n.600-3218_600-3217del) c.396_397del (p.Gln132HisfsTer2) c.341-3218_341-3217del (n.341-3218_341-3217del) n.532_533del c.*18-3218_*18-3217del (n.*18-3218_*18-3217del) | COSMIC |
| 3 | g.10146569A>C | CA351753966 | VHL | c.*73A>C (n.*73A>C) c.600-3218A>C (n.600-3218A>C) c.396A>C (p.Gln132His) c.341-3218A>C (n.341-3218A>C) n.532A>C c.*18-3218A>C (n.*18-3218A>C) | COSMIC |
| 3 | g.10146569A>G | CA432421844 | VHL | c.*73A>G (n.*73A>G) c.600-3218A>G (n.600-3218A>G) c.396A>G (p.Gln132=) c.341-3218A>G (n.341-3218A>G) n.532A>G c.*18-3218A>G (n.*18-3218A>G) | |
| 3 | g.10146569A>T | CA351753969 | VHL | c.*73A>T (n.*73A>T) c.600-3218A>T (n.600-3218A>T) c.396A>T (p.Gln132His) c.341-3218A>T (n.341-3218A>T) n.532A>T c.*18-3218A>T (n.*18-3218A>T) | dbSNP |
| 3 | g.10146570A= | CA1345058620 | VHL | c.*74A= (n.*74A=) c.600-3217A= (n.600-3217A=) c.397A= (p.Thr133=) c.341-3217A= (n.341-3217A=) n.533A= c.*18-3217A= (n.*18-3217A=) | |
| 3 | g.10146570A>C | CA351753973 | VHL | c.*74A>C (n.*74A>C) c.600-3217A>C (n.600-3217A>C) c.397A>C (p.Thr133Pro) c.341-3217A>C (n.341-3217A>C) n.533A>C c.*18-3217A>C (n.*18-3217A>C) | ClinVar dbSNP COSMIC |
| 3 | g.10146570A>G | CA351753976 | VHL | c.*74A>G (n.*74A>G) c.600-3217A>G (n.600-3217A>G) c.397A>G (p.Thr133Ala) c.341-3217A>G (n.341-3217A>G) n.533A>G c.*18-3217A>G (n.*18-3217A>G) | |
| 3 | g.10146570A>T | CA351753978 | VHL | c.*74A>T (n.*74A>T) c.600-3217A>T (n.600-3217A>T) c.397A>T (p.Thr133Ser) c.341-3217A>T (n.341-3217A>T) n.533A>T c.*18-3217A>T (n.*18-3217A>T) | dbSNP COSMIC |
| 3 | g.10146570_10146571del | CA645524932 | VHL | c.*74_*75del (n.*74_*75del) c.600-3217_600-3216del (n.600-3217_600-3216del) c.397_398del (p.Thr133Ter) c.341-3217_341-3216del (n.341-3217_341-3216del) n.533_534del c.*18-3217_*18-3216del (n.*18-3217_*18-3216del) | COSMIC |
| 3 | g.10146571_10146574del | CA645524933 | VHL | c.*75_*78del (n.*75_*78del) c.600-3216_600-3213del (n.600-3216_600-3213del) c.398_401del (p.Thr133AsnfsTer?) c.398_401del (p.Thr133AsnfsTer25) c.341-3216_341-3213del (n.341-3216_341-3213del) n.534_537del c.*18-3216_*18-3213del (n.*18-3216_*18-3213del) | COSMIC |
| 3 | g.10146571C>A | CA351753982 | VHL | c.*75C>A (n.*75C>A) c.600-3216C>A (n.600-3216C>A) c.398C>A (p.Thr133Asn) c.341-3216C>A (n.341-3216C>A) n.534C>A c.*18-3216C>A (n.*18-3216C>A) | dbSNP |
| 3 | g.10146571C= | CA1345058624 | VHL | c.*75C= (n.*75C=) c.600-3216C= (n.600-3216C=) c.398C= (p.Thr133=) c.341-3216C= (n.341-3216C=) n.534C= c.*18-3216C= (n.*18-3216C=) | |
| 3 | g.10146571C>G | CA351753986 | VHL | c.*75C>G (n.*75C>G) c.600-3216C>G (n.600-3216C>G) c.398C>G (p.Thr133Ser) c.341-3216C>G (n.341-3216C>G) n.534C>G c.*18-3216C>G (n.*18-3216C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10146571C>T | CA16611091 | VHL | c.*75C>T (n.*75C>T) c.600-3216C>T (n.600-3216C>T) c.398C>T (p.Thr133Ile) c.341-3216C>T (n.341-3216C>T) n.534C>T c.*18-3216C>T (n.*18-3216C>T) | ClinVar dbSNP |
| 3 | g.10146571_10146572insA | CA432421845 | VHL | c.*75_*76insA (n.*75_*76insA) c.600-3216_600-3215insA (n.600-3216_600-3215insA) c.398_399insA (p.Glu134Ter) c.341-3216_341-3215insA (n.341-3216_341-3215insA) n.534_535insA c.*18-3216_*18-3215insA (n.*18-3216_*18-3215insA) |