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 |
|---|---|---|---|---|---|
| 17 | g.50190266_50190819delinsCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTT | CA2263916110 | COL1A1 | c.2341_2451+61delinsAAGGTGAGGTGGCCGCCTCCCCACCTTCTGCCCTAACACATAGCCTCCTCAGCAGGCCTGGGCACGGTTCCGTGGGGTTGCGTTGGGAGAGCAGGTCCTGCCAAACTGAGCTGTCAACCTGGGAACCTGGAGGGACCAGAAGGAGGGGAGGCTCTCCTGGGGTCATCTACTAGGAGTATTCAGGGGAGGCCCTGACCCTGAGCCTCTTGTCCCTTGCTCTCAGGGTGAAAGTGGTCCCAGCGGCCCTGCTGGTCCCACTGGAGCTCGTGGTGCCCCCGTAAGTACAGAAGACCTGTTAAGACCCCATACTTGGCCCTTCCCTCCCTTCACACAGCACCCCTGGCCCTGTCTGTGCCTTCACCCCTTGCCTCTCCCCTCACCGCATCCCCGCCTTCCCTCCTGTCAGCGCATCTCTCCAATCTGACTCCTTTTCTTCTAGGGAGACCGTGGTGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCTGTGAGTACCAAGACCCCCATCATTTTTCATCACCGACTGGGACCTGGGACCTCGAGGGACG c.1423_1533+61delinsAAGGTGAGGTGGCCGCCTCCCCACCTTCTGCCCTAACACATAGCCTCCTCAGCAGGCCTGGGCACGGTTCCGTGGGGTTGCGTTGGGAGAGCAGGTCCTGCCAAACTGAGCTGTCAACCTGGGAACCTGGAGGGACCAGAAGGAGGGGAGGCTCTCCTGGGGTCATCTACTAGGAGTATTCAGGGGAGGCCCTGACCCTGAGCCTCTTGTCCCTTGCTCTCAGGGTGAAAGTGGTCCCAGCGGCCCTGCTGGTCCCACTGGAGCTCGTGGTGCCCCCGTAAGTACAGAAGACCTGTTAAGACCCCATACTTGGCCCTTCCCTCCCTTCACACAGCACCCCTGGCCCTGTCTGTGCCTTCACCCCTTGCCTCTCCCCTCACCGCATCCCCGCCTTCCCTCCTGTCAGCGCATCTCTCCAATCTGACTCCTTTTCTTCTAGGGAGACCGTGGTGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCTGTGAGTACCAAGACCCCCATCATTTTTCATCACCGACTGGGACCTGGGACCTCGAGGGACG c.2143_2253+61delinsAAGGTGAGGTGGCCGCCTCCCCACCTTCTGCCCTAACACATAGCCTCCTCAGCAGGCCTGGGCACGGTTCCGTGGGGTTGCGTTGGGAGAGCAGGTCCTGCCAAACTGAGCTGTCAACCTGGGAACCTGGAGGGACCAGAAGGAGGGGAGGCTCTCCTGGGGTCATCTACTAGGAGTATTCAGGGGAGGCCCTGACCCTGAGCCTCTTGTCCCTTGCTCTCAGGGTGAAAGTGGTCCCAGCGGCCCTGCTGGTCCCACTGGAGCTCGTGGTGCCCCCGTAAGTACAGAAGACCTGTTAAGACCCCATACTTGGCCCTTCCCTCCCTTCACACAGCACCCCTGGCCCTGTCTGTGCCTTCACCCCTTGCCTCTCCCCTCACCGCATCCCCGCCTTCCCTCCTGTCAGCGCATCTCTCCAATCTGACTCCTTTTCTTCTAGGGAGACCGTGGTGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCTGTGAGTACCAAGACCCCCATCATTTTTCATCACCGACTGGGACCTGGGACCTCGAGGGACG | |
| 17 | g.50190268_50190384del | CA291543341 | COL1A1 | c.2398-3_2451+60del c.1480-3_1533+60del c.2200-3_2253+60del | |
| 17 | g.50190270_50190822del | CA1139665699 | COL1A1 | c.2341_2451+60del c.1423_1533+60del c.2143_2253+60del | ClinVar dbSNP |
| 17 | g.50190333dup | CA915950606 | COL1A1 | c.2450dup (p.Gly818TrpfsTer3) n.377dup c.1532dup (p.Gly512TrpfsTer3) c.2252dup (p.Gly752TrpfsTer3) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50190333del | CA260296 | COL1A1 | c.2450del (p.Pro817LeufsTer?) n.377del c.1532del (p.Pro511LeufsTer?) c.2252del (p.Pro751LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50190332_50190333delinsT | CA2499224727 | COL1A1 | c.2445_2446delinsA (p.Pro817LeufsTer?) n.372_373delinsA c.1527_1528delinsA (p.Pro511LeufsTer?) c.2247_2248delinsA (p.Pro751LeufsTer?) | ClinVar dbSNP |
| 17 | g.50190333G>A | CA291543360 | COL1A1 | c.2445C>T (p.Gly815=) n.372C>T c.1527C>T (p.Gly509=) c.2247C>T (p.Gly749=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50190333G>C | CA8644811 | COL1A1 | c.2445C>G (p.Gly815=) n.372C>G c.1527C>G (p.Gly509=) c.2247C>G (p.Gly749=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50190333G= | CA2263916156 | COL1A1 | c.2445C= (p.Gly815=) n.372C= c.1527C= (p.Gly509=) c.2247C= (p.Gly749=) | |
| 17 | g.50190333G>T | CA500845466 | COL1A1 | c.2445C>A (p.Gly815=) n.372C>A c.1527C>A (p.Gly509=) c.2247C>A (p.Gly749=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50190333_50190334delinsGC | CA2263916155 | COL1A1 | c.2444_2445delinsGC (p.Gly815=) n.371_372delinsGC c.1526_1527delinsGC (p.Gly509=) c.2246_2247delinsGC (p.Gly749=) | |
| 17 | g.50190334C>A | CA257872 | COL1A1 | c.2444G>T (p.Gly815Val) n.371G>T c.1526G>T (p.Gly509Val) c.2246G>T (p.Gly749Val) | ClinVar dbSNP |
| 17 | g.50190334C= | CA2263916157 | COL1A1 | c.2444G= (p.Gly815=) n.371G= c.1526G= (p.Gly509=) c.2246G= (p.Gly749=) | |
| 17 | g.50190334C>G | CA291543364 | COL1A1 | c.2444G>C (p.Gly815Ala) n.371G>C c.1526G>C (p.Gly509Ala) c.2246G>C (p.Gly749Ala) | ClinVar dbSNP |
| 17 | g.50190334C>T | CA400207920 | COL1A1 | c.2444G>A (p.Gly815Asp) n.371G>A c.1526G>A (p.Gly509Asp) c.2246G>A (p.Gly749Asp) | gnomAD v4 |
| 17 | g.50190334_50190335delinsG | CA2740093779 | COL1A1 | c.2443_2444delinsC (p.Gly815ProfsTer?) n.370_371delinsC c.1525_1526delinsC (p.Gly509ProfsTer?) c.2245_2246delinsC (p.Gly749ProfsTer?) | ClinVar |
| 17 | g.50190335del | CA291543362 | COL1A1 | c.2444del (p.Gly815AlafsTer?) n.371del c.1526del (p.Gly509AlafsTer?) c.2246del (p.Gly749AlafsTer?) | dbSNP |
| 17 | g.50190335C>A | CA400207921 | COL1A1 | c.2443G>T (p.Gly815Cys) n.370G>T c.1525G>T (p.Gly509Cys) c.2245G>T (p.Gly749Cys) | |
| 17 | g.50190335C>G | CA400207922 | COL1A1 | c.2443G>C (p.Gly815Arg) n.370G>C c.1525G>C (p.Gly509Arg) c.2245G>C (p.Gly749Arg) | |
| 17 | g.50190335C>T | CA400207923 | COL1A1 | c.2443G>A (p.Gly815Ser) n.370G>A c.1525G>A (p.Gly509Ser) c.2245G>A (p.Gly749Ser) | |
| 17 | g.50190336A>C | CA500845489 | COL1A1 | c.2442T>G (p.Ala814=) n.369T>G c.1524T>G (p.Ala508=) c.2244T>G (p.Ala748=) | |
| 17 | g.50190336A>G | CA500845492 | COL1A1 | c.2442T>C (p.Ala814=) n.369T>C c.1524T>C (p.Ala508=) c.2244T>C (p.Ala748=) | |
| 17 | g.50190336A>T | CA500845490 | COL1A1 | c.2442T>A (p.Ala814=) n.369T>A c.1524T>A (p.Ala508=) c.2244T>A (p.Ala748=) | |
| 17 | g.50190337G>A | CA400207924 | COL1A1 | c.2441C>T (p.Ala814Val) n.368C>T c.1523C>T (p.Ala508Val) c.2243C>T (p.Ala748Val) | gnomAD v4 |
| 17 | g.50190337G>C | CA400207925 | COL1A1 | c.2441C>G (p.Ala814Gly) n.368C>G c.1523C>G (p.Ala508Gly) c.2243C>G (p.Ala748Gly) | |
| 17 | g.50190337G>T | CA400207926 | COL1A1 | c.2441C>A (p.Ala814Asp) n.368C>A c.1523C>A (p.Ala508Asp) c.2243C>A (p.Ala748Asp) | gnomAD v4 |
| 17 | g.50190338C>A | CA400207927 | COL1A1 | c.2440G>T (p.Ala814Ser) n.367G>T c.1522G>T (p.Ala508Ser) c.2242G>T (p.Ala748Ser) | gnomAD v4 |
| 17 | g.50190338C>G | CA400207928 | COL1A1 | c.2440G>C (p.Ala814Pro) n.367G>C c.1522G>C (p.Ala508Pro) c.2242G>C (p.Ala748Pro) | |
| 17 | g.50190338C>T | CA400207929 | COL1A1 | c.2440G>A (p.Ala814Thr) n.367G>A c.1522G>A (p.Ala508Thr) c.2242G>A (p.Ala748Thr) | gnomAD v4 |
| 17 | g.50190339A>C | CA400207930 | COL1A1 | c.2439T>G (p.Phe813Leu) n.366T>G c.1521T>G (p.Phe507Leu) c.2241T>G (p.Phe747Leu) | |
| 17 | g.50190339A>G | CA500845501 | COL1A1 | c.2439T>C (p.Phe813=) n.366T>C c.1521T>C (p.Phe507=) c.2241T>C (p.Phe747=) | dbSNP |
| 17 | g.50190339A>T | CA400207931 | COL1A1 | c.2439T>A (p.Phe813Leu) n.366T>A c.1521T>A (p.Phe507Leu) c.2241T>A (p.Phe747Leu) | |
| 17 | g.50190340A>C | CA400207932 | COL1A1 | c.2438T>G (p.Phe813Cys) n.365T>G c.1520T>G (p.Phe507Cys) c.2240T>G (p.Phe747Cys) | |
| 17 | g.50190340A>G | CA400207933 | COL1A1 | c.2438T>C (p.Phe813Ser) n.365T>C c.1520T>C (p.Phe507Ser) c.2240T>C (p.Phe747Ser) | gnomAD v4 |
| 17 | g.50190340A>T | CA400207934 | COL1A1 | c.2438T>A (p.Phe813Tyr) n.365T>A c.1520T>A (p.Phe507Tyr) c.2240T>A (p.Phe747Tyr) | |
| 17 | g.50190341A>C | CA400207937 | COL1A1 | c.2437T>G (p.Phe813Val) n.364T>G c.1519T>G (p.Phe507Val) c.2239T>G (p.Phe747Val) | |
| 17 | g.50190341A>G | CA400207936 | COL1A1 | c.2437T>C (p.Phe813Leu) n.364T>C c.1519T>C (p.Phe507Leu) c.2239T>C (p.Phe747Leu) | |
| 17 | g.50190341A>T | CA400207935 | COL1A1 | c.2437T>A (p.Phe813Ile) n.364T>A c.1519T>A (p.Phe507Ile) c.2239T>A (p.Phe747Ile) | |
| 17 | g.50190342G>A | CA500845511 | COL1A1 | c.2436C>T (p.Gly812=) n.363C>T c.1518C>T (p.Gly506=) c.2238C>T (p.Gly746=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50190342G>C | CA500845514 | COL1A1 | c.2436C>G (p.Gly812=) n.363C>G c.1518C>G (p.Gly506=) c.2238C>G (p.Gly746=) | |
| 17 | g.50190342G= | CA2263916158 | COL1A1 | c.2436C= (p.Gly812=) n.363C= c.1518C= (p.Gly506=) c.2238C= (p.Gly746=) | |
| 17 | g.50190342G>T | CA500845517 | COL1A1 | c.2436C>A (p.Gly812=) n.363C>A c.1518C>A (p.Gly506=) c.2238C>A (p.Gly746=) | |
| 17 | g.50190343C>A | CA400207938 | COL1A1 | c.2435G>T (p.Gly812Val) n.362G>T c.1517G>T (p.Gly506Val) c.2237G>T (p.Gly746Val) | |
| 17 | g.50190343C>G | CA400207940 | COL1A1 | c.2435G>C (p.Gly812Ala) n.362G>C c.1517G>C (p.Gly506Ala) c.2237G>C (p.Gly746Ala) | |
| 17 | g.50190343C>T | CA400207939 | COL1A1 | c.2435G>A (p.Gly812Asp) n.362G>A c.1517G>A (p.Gly506Asp) c.2237G>A (p.Gly746Asp) | COSMIC |
| 17 | g.50190344C>A | CA400207941 | COL1A1 | c.2434G>T (p.Gly812Cys) n.361G>T c.1516G>T (p.Gly506Cys) c.2236G>T (p.Gly746Cys) | |
| 17 | g.50190344C= | CA2263916159 | COL1A1 | c.2434G= (p.Gly812=) n.361G= c.1516G= (p.Gly506=) c.2236G= (p.Gly746=) | |
| 17 | g.50190344C>G | CA400207942 | COL1A1 | c.2434G>C (p.Gly812Arg) n.361G>C c.1516G>C (p.Gly506Arg) c.2236G>C (p.Gly746Arg) | |
| 17 | g.50190344C>T | CA10603999 | COL1A1 | c.2434G>A (p.Gly812Ser) n.361G>A c.1516G>A (p.Gly506Ser) c.2236G>A (p.Gly746Ser) | ClinVar dbSNP |
| 17 | g.50190345A>C | CA500845532 | COL1A1 | c.2433T>G (p.Ala811=) n.360T>G c.1515T>G (p.Ala505=) c.2235T>G (p.Ala745=) | gnomAD v4 |