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 |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173912151_173919034dup | CA2580611212 | |||
| 1 | g.173912552_173914879del | CA2573051423 | SERPINC1 | c.84_409-536del n.310_635-536del c.-61_265-536del c.165_490-536del c.84_409-1659del | ClinVar |
| 1 | g.173914640_173922032del | CA2573051424 | ClinVar | ||
| 1 | g.173914772A= | CA1207938985 | SERPINC1 | c.189T= (p.Thr63=) n.415T= c.45T= (p.Thr15=) c.270T= (p.Thr90=) | |
| 1 | g.173914772A>C | CA421943123 | SERPINC1 | c.189T>G (p.Thr63=) n.415T>G c.45T>G (p.Thr15=) c.270T>G (p.Thr90=) | gnomAD v4 |
| 1 | g.173914772A>G | CA421943125 | SERPINC1 | c.189T>C (p.Thr63=) n.415T>C c.45T>C (p.Thr15=) c.270T>C (p.Thr90=) | dbSNP gnomAD v4 |
| 1 | g.173914772A>T | CA421943127 | SERPINC1 | c.189T>A (p.Thr63=) n.415T>A c.45T>A (p.Thr15=) c.270T>A (p.Thr90=) | |
| 1 | g.173914772dup | CA2649174715 | SERPINC1 | c.189dup (p.Glu64Ter) n.415dup c.45dup (p.Glu16Ter) c.270dup (p.Glu91Ter) | ClinVar gnomAD v4 |
| 1 | g.173914772_173914773insTT | CA2740097741 | SERPINC1 | c.188_189insAA (p.Glu64MetfsTer?) n.414_415insAA c.44_45insAA (p.Glu16MetfsTer?) c.269_270insAA (p.Glu91MetfsTer?) | |
| 1 | g.173914773G>A | CA343778071 | SERPINC1 | c.188C>T (p.Thr63Ile) n.414C>T c.44C>T (p.Thr15Ile) c.269C>T (p.Thr90Ile) | |
| 1 | g.173914773G>C | CA343778070 | SERPINC1 | c.188C>G (p.Thr63Ser) n.414C>G c.44C>G (p.Thr15Ser) c.269C>G (p.Thr90Ser) | |
| 1 | g.173914773G>T | CA343778068 | SERPINC1 | c.188C>A (p.Thr63Asn) n.414C>A c.44C>A (p.Thr15Asn) c.269C>A (p.Thr90Asn) | |
| 1 | g.173914774T>A | CA343778073 | SERPINC1 | c.187A>T (p.Thr63Ser) n.413A>T c.43A>T (p.Thr15Ser) c.268A>T (p.Thr90Ser) | |
| 1 | g.173914774T>C | CA343778075 | SERPINC1 | c.187A>G (p.Thr63Ala) n.413A>G c.43A>G (p.Thr15Ala) c.268A>G (p.Thr90Ala) | |
| 1 | g.173914774T>G | CA343778077 | SERPINC1 | c.187A>C (p.Thr63Pro) n.413A>C c.43A>C (p.Thr15Pro) c.268A>C (p.Thr90Pro) | |
| 1 | g.173914775T>A | CA421943133 | SERPINC1 | c.186A>T (p.Ala62=) n.412A>T c.42A>T (p.Ala14=) c.267A>T (p.Ala89=) | |
| 1 | g.173914775T>C | CA421943132 | SERPINC1 | c.186A>G (p.Ala62=) n.412A>G c.42A>G (p.Ala14=) c.267A>G (p.Ala89=) | |
| 1 | g.173914775T>G | CA421943131 | SERPINC1 | c.186A>C (p.Ala62=) n.412A>C c.42A>C (p.Ala14=) c.267A>C (p.Ala89=) | dbSNP |
| 1 | g.173914775T= | CA1207938986 | SERPINC1 | c.186A= (p.Ala62=) n.412A= c.42A= (p.Ala14=) c.267A= (p.Ala89=) | |
| 1 | g.173914776G>A | CA343778078 | SERPINC1 | c.185C>T (p.Ala62Val) n.411C>T c.41C>T (p.Ala14Val) c.266C>T (p.Ala89Val) | |
| 1 | g.173914776G>C | CA343778079 | SERPINC1 | c.185C>G (p.Ala62Gly) n.411C>G c.41C>G (p.Ala14Gly) c.266C>G (p.Ala89Gly) | |
| 1 | g.173914776G>T | CA343778081 | SERPINC1 | c.185C>A (p.Ala62Glu) n.411C>A c.41C>A (p.Ala14Glu) c.266C>A (p.Ala89Glu) | |
| 1 | g.173914777C>A | CA343778083 | SERPINC1 | c.184G>T (p.Ala62Ser) n.410G>T c.40G>T (p.Ala14Ser) c.265G>T (p.Ala89Ser) | |
| 1 | g.173914777C>G | CA343778086 | SERPINC1 | c.184G>C (p.Ala62Pro) n.410G>C c.40G>C (p.Ala14Pro) c.265G>C (p.Ala89Pro) | |
| 1 | g.173914777C>T | CA343778085 | SERPINC1 | c.184G>A (p.Ala62Thr) n.410G>A c.40G>A (p.Ala14Thr) c.265G>A (p.Ala89Thr) | |
| 1 | g.173914777_173914780delinsCCTT | CA1207938987 | SERPINC1 | c.181_184delinsAAGG (p.Lys61=) n.407_410delinsAAGG c.37_40delinsAAGG (p.Lys13=) c.262_265delinsAAGG (p.Lys88=) | |
| 1 | g.173914778C>A | CA343778088 | SERPINC1 | c.183G>T (p.Lys61Asn) n.409G>T c.39G>T (p.Lys13Asn) c.264G>T (p.Lys88Asn) | |
| 1 | g.173914778C>G | CA343778090 | SERPINC1 | c.183G>C (p.Lys61Asn) n.409G>C c.39G>C (p.Lys13Asn) c.264G>C (p.Lys88Asn) | |
| 1 | g.173914778C>T | CA421943143 | SERPINC1 | c.183G>A (p.Lys61=) n.409G>A c.39G>A (p.Lys13=) c.264G>A (p.Lys88=) | gnomAD v4 COSMIC |
| 1 | g.173914783_173914785del | CA1251453 | SERPINC1 | c.181_183del (p.Lys61del) n.407_409del c.37_39del (p.Lys13del) c.262_264del (p.Lys88del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914779T>A | CA343778093 | SERPINC1 | c.182A>T (p.Lys61Met) n.408A>T c.38A>T (p.Lys13Met) c.263A>T (p.Lys88Met) | |
| 1 | g.173914779T>C | CA343778095 | SERPINC1 | c.182A>G (p.Lys61Arg) n.408A>G c.38A>G (p.Lys13Arg) c.263A>G (p.Lys88Arg) | |
| 1 | g.173914779T>G | CA343778097 | SERPINC1 | c.182A>C (p.Lys61Thr) n.408A>C c.38A>C (p.Lys13Thr) c.263A>C (p.Lys88Thr) | |
| 1 | g.173914780T>A | CA343778098 | SERPINC1 | c.181A>T (p.Lys61Ter) n.407A>T c.37A>T (p.Lys13Ter) c.262A>T (p.Lys88Ter) | |
| 1 | g.173914780T>C | CA343778100 | SERPINC1 | c.181A>G (p.Lys61Glu) n.407A>G c.37A>G (p.Lys13Glu) c.262A>G (p.Lys88Glu) | |
| 1 | g.173914780T>G | CA343778102 | SERPINC1 | c.181A>C (p.Lys61Gln) n.407A>C c.37A>C (p.Lys13Gln) c.262A>C (p.Lys88Gln) | |
| 1 | g.173914781C>A | CA343778103 | SERPINC1 | c.180G>T (p.Lys60Asn) n.406G>T c.36G>T (p.Lys12Asn) c.261G>T (p.Lys87Asn) | |
| 1 | g.173914781C>G | CA343778105 | SERPINC1 | c.180G>C (p.Lys60Asn) n.406G>C c.36G>C (p.Lys12Asn) c.261G>C (p.Lys87Asn) | |
| 1 | g.173914781C>T | CA421943147 | SERPINC1 | c.180G>A (p.Lys60=) n.406G>A c.36G>A (p.Lys12=) c.261G>A (p.Lys87=) | |
| 1 | g.173914782T>A | CA343778107 | SERPINC1 | c.179A>T (p.Lys60Met) n.405A>T c.35A>T (p.Lys12Met) c.260A>T (p.Lys87Met) | |
| 1 | g.173914782T>C | CA343778109 | SERPINC1 | c.179A>G (p.Lys60Arg) n.405A>G c.35A>G (p.Lys12Arg) c.260A>G (p.Lys87Arg) | gnomAD v3 gnomAD v4 |
| 1 | g.173914782T>G | CA343778108 | SERPINC1 | c.179A>C (p.Lys60Thr) n.405A>C c.35A>C (p.Lys12Thr) c.260A>C (p.Lys87Thr) | |
| 1 | g.173914783T>A | CA343778111 | SERPINC1 | c.178A>T (p.Lys60Ter) n.404A>T c.34A>T (p.Lys12Ter) c.259A>T (p.Lys87Ter) | |
| 1 | g.173914783T>C | CA343778114 | SERPINC1 | c.178A>G (p.Lys60Glu) n.404A>G c.34A>G (p.Lys12Glu) c.259A>G (p.Lys87Glu) | |
| 1 | g.173914783T>G | CA343778113 | SERPINC1 | c.178A>C (p.Lys60Gln) n.404A>C c.34A>C (p.Lys12Gln) c.259A>C (p.Lys87Gln) | gnomAD v4 |
| 1 | g.173914784C>A | CA343778116 | SERPINC1 | c.177G>T (p.Glu59Asp) n.403G>T c.33G>T (p.Glu11Asp) c.258G>T (p.Glu86Asp) | |
| 1 | g.173914784C>G | CA343778118 | SERPINC1 | c.177G>C (p.Glu59Asp) n.403G>C c.33G>C (p.Glu11Asp) c.258G>C (p.Glu86Asp) |