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.143724261C>A | CA11558944 | SLC9A9 | c.534-30954G>T (n.534-30954G>T) c.*145-30954G>T (n.*145-30954G>T) c.183-30954G>T (n.183-30954G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724261C= | CA1407538421 | SLC9A9 | c.534-30954G= (n.534-30954G=) c.*145-30954G= (n.*145-30954G=) c.183-30954G= (n.183-30954G=) | |
| 3 | g.143724261C>G | CA2581918690 | SLC9A9 | c.534-30954G>C (n.534-30954G>C) c.*145-30954G>C (n.*145-30954G>C) c.183-30954G>C (n.183-30954G>C) | |
| 3 | g.143724261C>T | CA2581918689 | SLC9A9 | c.534-30954G>A (n.534-30954G>A) c.*145-30954G>A (n.*145-30954G>A) c.183-30954G>A (n.183-30954G>A) | |
| 3 | g.143724263C= | CA1407538425 | SLC9A9 | c.534-30956G= (n.534-30956G=) c.*145-30956G= (n.*145-30956G=) c.183-30956G= (n.183-30956G=) | |
| 3 | g.143724263C>G | CA11381109 | SLC9A9 | c.534-30956G>C (n.534-30956G>C) c.*145-30956G>C (n.*145-30956G>C) c.183-30956G>C (n.183-30956G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724263C>T | CA1407538424 | SLC9A9 | c.534-30956G>A (n.534-30956G>A) c.*145-30956G>A (n.*145-30956G>A) c.183-30956G>A (n.183-30956G>A) | dbSNP |
| 3 | g.143724265C>G | CA2758731841 | SLC9A9 | c.534-30958G>C (n.534-30958G>C) c.*145-30958G>C (n.*145-30958G>C) c.183-30958G>C (n.183-30958G>C) | |
| 3 | g.143724269_143724274delinsCCCCTT | CA1407538426 | SLC9A9 | c.534-30967_534-30962delinsAAGGGG (n.534-30967_534-30962delinsAAGGGG) c.*145-30967_*145-30962delinsAAGGGG (n.*145-30967_*145-30962delinsAAGGGG) c.183-30967_183-30962delinsAAGGGG (n.183-30967_183-30962delinsAAGGGG) | |
| 3 | g.143724270C= | CA1407538429 | SLC9A9 | c.534-30963G= (n.534-30963G=) c.*145-30963G= (n.*145-30963G=) c.183-30963G= (n.183-30963G=) | |
| 3 | g.143724270C>T | CA85303904 | SLC9A9 | c.534-30963G>A (n.534-30963G>A) c.*145-30963G>A (n.*145-30963G>A) c.183-30963G>A (n.183-30963G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724272_143724276del | CA1054423674 | SLC9A9 | c.534-30967_534-30963del (n.534-30967_534-30963del) c.*145-30967_*145-30963del (n.*145-30967_*145-30963del) c.183-30967_183-30963del (n.183-30967_183-30963del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724271C= | CA1407538431 | SLC9A9 | c.534-30964G= (n.534-30964G=) c.*145-30964G= (n.*145-30964G=) c.183-30964G= (n.183-30964G=) | |
| 3 | g.143724271C>G | CA85303905 | SLC9A9 | c.534-30964G>C (n.534-30964G>C) c.*145-30964G>C (n.*145-30964G>C) c.183-30964G>C (n.183-30964G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724273T>C | CA1407538433 | SLC9A9 | c.534-30966A>G (n.534-30966A>G) c.*145-30966A>G (n.*145-30966A>G) c.183-30966A>G (n.183-30966A>G) | dbSNP |
| 3 | g.143724273T= | CA1407538432 | SLC9A9 | c.534-30966A= (n.534-30966A=) c.*145-30966A= (n.*145-30966A=) c.183-30966A= (n.183-30966A=) | |
| 3 | g.143724277A= | CA1407538435 | SLC9A9 | c.534-30970T= (n.534-30970T=) c.*145-30970T= (n.*145-30970T=) c.183-30970T= (n.183-30970T=) | |
| 3 | g.143724277A>T | CA1407538436 | SLC9A9 | c.534-30970T>A (n.534-30970T>A) c.*145-30970T>A (n.*145-30970T>A) c.183-30970T>A (n.183-30970T>A) | dbSNP |
| 3 | g.143724278C>A | CA2704038414 | SLC9A9 | c.534-30971G>T (n.534-30971G>T) c.*145-30971G>T (n.*145-30971G>T) c.183-30971G>T (n.183-30971G>T) | dbSNP |
| 3 | g.143724278C= | CA1407538438 | SLC9A9 | c.534-30971G= (n.534-30971G=) c.*145-30971G= (n.*145-30971G=) c.183-30971G= (n.183-30971G=) | |
| 3 | g.143724278C>G | CA900041057 | SLC9A9 | c.534-30971G>C (n.534-30971G>C) c.*145-30971G>C (n.*145-30971G>C) c.183-30971G>C (n.183-30971G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724279C>T | CA2758731842 | SLC9A9 | c.534-30972G>A (n.534-30972G>A) c.*145-30972G>A (n.*145-30972G>A) c.183-30972G>A (n.183-30972G>A) | |
| 3 | g.143724283T>A | CA85303906 | SLC9A9 | c.534-30976A>T (n.534-30976A>T) c.*145-30976A>T (n.*145-30976A>T) c.183-30976A>T (n.183-30976A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724283T= | CA1407538440 | SLC9A9 | c.534-30976A= (n.534-30976A=) c.*145-30976A= (n.*145-30976A=) c.183-30976A= (n.183-30976A=) | |
| 3 | g.143724285A= | CA1407538442 | SLC9A9 | c.534-30978T= (n.534-30978T=) c.*145-30978T= (n.*145-30978T=) c.183-30978T= (n.183-30978T=) | |
| 3 | g.143724285A>T | CA900041061 | SLC9A9 | c.534-30978T>A (n.534-30978T>A) c.*145-30978T>A (n.*145-30978T>A) c.183-30978T>A (n.183-30978T>A) | dbSNP |
| 3 | g.143724287G>A | CA900041066 | SLC9A9 | c.534-30980C>T (n.534-30980C>T) c.*145-30980C>T (n.*145-30980C>T) c.183-30980C>T (n.183-30980C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724287G= | CA1407538443 | SLC9A9 | c.534-30980C= (n.534-30980C=) c.*145-30980C= (n.*145-30980C=) c.183-30980C= (n.183-30980C=) | |
| 3 | g.143724291T>G | CA11575653 | SLC9A9 | c.534-30984A>C (n.534-30984A>C) c.*145-30984A>C (n.*145-30984A>C) c.183-30984A>C (n.183-30984A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724291T= | CA1407538445 | SLC9A9 | c.534-30984A= (n.534-30984A=) c.*145-30984A= (n.*145-30984A=) c.183-30984A= (n.183-30984A=) | |
| 3 | g.143724291_143724292insAC | CA1054423700 | SLC9A9 | c.534-30985_534-30984insGT (n.534-30985_534-30984insGT) c.*145-30985_*145-30984insGT (n.*145-30985_*145-30984insGT) c.183-30985_183-30984insGT (n.183-30985_183-30984insGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAA | CA1054423701 | SLC9A9 | c.534-30985_534-30984insTTGCTCTAGT (n.534-30985_534-30984insTTGCTCTAGT) c.*145-30985_*145-30984insTTGCTCTAGT (n.*145-30985_*145-30984insTTGCTCTAGT) c.183-30985_183-30984insTTGCTCTAGT (n.183-30985_183-30984insTTGCTCTAGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACA | CA546827022 | SLC9A9 | c.534-30985_534-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT) | gnomAD v2 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTG | CA1054423697 | SLC9A9 | c.534-30985_534-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGG | CA1054423699 | SLC9A9 | c.534-30985_534-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | dbSNP |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAA | CA1054423689 | SLC9A9 | c.534-30985_534-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCC | CA1054423686 | SLC9A9 | c.534-30985_534-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724292T>A | CA1054423682 | SLC9A9 | c.534-30985A>T (n.534-30985A>T) c.*145-30985A>T (n.*145-30985A>T) c.183-30985A>T (n.183-30985A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724292T= | CA1407538451 | SLC9A9 | c.534-30985A= (n.534-30985A=) c.*145-30985A= (n.*145-30985A=) c.183-30985A= (n.183-30985A=) | |
| 3 | g.143724292_143724293insAGAGCAATCACCC | CA1054423705 | SLC9A9 | c.534-30986_534-30985insGGGTGATTGCTCT (n.534-30986_534-30985insGGGTGATTGCTCT) c.*145-30986_*145-30985insGGGTGATTGCTCT (n.*145-30986_*145-30985insGGGTGATTGCTCT) c.183-30986_183-30985insGGGTGATTGCTCT (n.183-30986_183-30985insGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724293C>A | CA85303907 | SLC9A9 | c.534-30986G>T (n.534-30986G>T) c.*145-30986G>T (n.*145-30986G>T) c.183-30986G>T (n.183-30986G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724293C= | CA1407538456 | SLC9A9 | c.534-30986G= (n.534-30986G=) c.*145-30986G= (n.*145-30986G=) c.183-30986G= (n.183-30986G=) | |
| 3 | g.143724293_143724294insACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTT | CA1054423707 | SLC9A9 | c.534-30987_534-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT (n.534-30987_534-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT) c.*145-30987_*145-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT (n.*145-30987_*145-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT) c.183-30987_183-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT (n.183-30987_183-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724294T>C | CA1407538460 | SLC9A9 | c.534-30987A>G (n.534-30987A>G) c.*145-30987A>G (n.*145-30987A>G) c.183-30987A>G (n.183-30987A>G) | dbSNP |
| 3 | g.143724294T= | CA1407538459 | SLC9A9 | c.534-30987A= (n.534-30987A=) c.*145-30987A= (n.*145-30987A=) c.183-30987A= (n.183-30987A=) | |
| 3 | g.143724294_143724295insAGAGCAATCACCC | CA1054423712 | SLC9A9 | c.534-30988_534-30987insGGGTGATTGCTCT (n.534-30988_534-30987insGGGTGATTGCTCT) c.*145-30988_*145-30987insGGGTGATTGCTCT (n.*145-30988_*145-30987insGGGTGATTGCTCT) c.183-30988_183-30987insGGGTGATTGCTCT (n.183-30988_183-30987insGGGTGATTGCTCT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAA | CA1054423713 | SLC9A9 | c.534-30988_534-30987insTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTTATATGTGAGGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATA | CA2519941707 | SLC9A9 | c.534-30988_534-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATACAGCCATGAAAACCAGGA | CA1054423718 | SLC9A9 | c.534-30988_534-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATACAGCCATGAAAACCAGGACA | CA1054423721 | SLC9A9 | c.534-30988_534-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |