UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.173914640_173922032del | CA2573051424 | ClinVar | ||
| 1 | g.173914903A>C | CA343778561 | SERPINC1 | c.58T>G (p.Ser20Ala) n.284T>G c.-87T>G (n.-87T>G) c.139T>G (p.Ser47Ala) | |
| 1 | g.173914903A>G | CA343778559 | SERPINC1 | c.58T>C (p.Ser20Pro) n.284T>C c.-87T>C (n.-87T>C) c.139T>C (p.Ser47Pro) | |
| 1 | g.173914903A>T | CA343778557 | SERPINC1 | c.58T>A (p.Ser20Thr) n.284T>A c.-87T>A (n.-87T>A) c.139T>A (p.Ser47Thr) | |
| 1 | g.173914904C>A | CA343778563 | SERPINC1 | c.57G>T (p.Leu19Phe) n.283G>T c.-88G>T (n.-88G>T) c.138G>T (p.Leu46Phe) | |
| 1 | g.173914904C>G | CA343778564 | SERPINC1 | c.57G>C (p.Leu19Phe) n.283G>C c.-88G>C (n.-88G>C) c.138G>C (p.Leu46Phe) | |
| 1 | g.173914904C>T | CA421942692 | SERPINC1 | c.57G>A (p.Leu19=) n.283G>A c.-88G>A (n.-88G>A) c.138G>A (p.Leu46=) | |
| 1 | g.173914905A>C | CA343778566 | SERPINC1 | c.56T>G (p.Leu19Trp) n.282T>G c.-89T>G (n.-89T>G) c.137T>G (p.Leu46Trp) | |
| 1 | g.173914905A>G | CA343778569 | SERPINC1 | c.56T>C (p.Leu19Ser) n.282T>C c.-89T>C (n.-89T>C) c.137T>C (p.Leu46Ser) | gnomAD v4 |
| 1 | g.173914905A>T | CA343778570 | SERPINC1 | c.56T>A (p.Leu19Ter) n.282T>A c.-89T>A (n.-89T>A) c.137T>A (p.Leu46Ter) | |
| 1 | g.173914906A>C | CA343778571 | SERPINC1 | c.55T>G (p.Leu19Val) n.281T>G c.-90T>G (n.-90T>G) c.136T>G (p.Leu46Val) | |
| 1 | g.173914906A>G | CA421942693 | SERPINC1 | c.55T>C (p.Leu19=) n.281T>C c.-90T>C (n.-90T>C) c.136T>C (p.Leu46=) | |
| 1 | g.173914906A>T | CA343778573 | SERPINC1 | c.55T>A (p.Leu19Met) n.281T>A c.-90T>A (n.-90T>A) c.136T>A (p.Leu46Met) | |
| 1 | g.173914907_173914910dup | CA2586964452 | SERPINC1 | c.52_55dup (p.Leu19SerfsTer?) n.278_281dup c.-93_-90dup (n.-93_-90dup) c.133_136dup (p.Leu46SerfsTer?) | |
| 1 | g.173914906_173916922del | CA2573051425 | SERPINC1 | c.41+297_55del n.98+297_281del c.-273+297_-90del c.24+314_136del | ClinVar |
| 1 | g.173914907A>C | CA421942694 | SERPINC1 | c.54T>G (p.Leu18=) n.280T>G c.-91T>G (n.-91T>G) c.135T>G (p.Leu45=) | |
| 1 | g.173914907A>G | CA421942695 | SERPINC1 | c.54T>C (p.Leu18=) n.280T>C c.-91T>C (n.-91T>C) c.135T>C (p.Leu45=) | |
| 1 | g.173914907A>T | CA421942696 | SERPINC1 | c.54T>A (p.Leu18=) n.280T>A c.-91T>A (n.-91T>A) c.135T>A (p.Leu45=) | |
| 1 | g.173914908A>C | CA343778575 | SERPINC1 | c.53T>G (p.Leu18Arg) n.279T>G c.-92T>G (n.-92T>G) c.134T>G (p.Leu45Arg) | |
| 1 | g.173914908A>G | CA343778576 | SERPINC1 | c.53T>C (p.Leu18Pro) n.279T>C c.-92T>C (n.-92T>C) c.134T>C (p.Leu45Pro) | |
| 1 | g.173914908A>T | CA343778578 | SERPINC1 | c.53T>A (p.Leu18His) n.279T>A c.-92T>A (n.-92T>A) c.134T>A (p.Leu45His) | |
| 1 | g.173914909G>A | CA343778580 | SERPINC1 | c.52C>T (p.Leu18Phe) n.278C>T c.-93C>T (n.-93C>T) c.133C>T (p.Leu45Phe) | |
| 1 | g.173914909G>C | CA343778581 | SERPINC1 | c.52C>G (p.Leu18Val) n.278C>G c.-93C>G (n.-93C>G) c.133C>G (p.Leu45Val) | |
| 1 | g.173914909G>T | CA343778583 | SERPINC1 | c.52C>A (p.Leu18Ile) n.278C>A c.-93C>A (n.-93C>A) c.133C>A (p.Leu45Ile) | |
| 1 | g.173914909_173914911dup | CA2697554663 | SERPINC1 | c.50_52dup (p.Tyr17_Leu18insHis) n.276_278dup c.-95_-93dup (n.-95_-93dup) c.131_133dup (p.Tyr44_Leu45insHis) | ClinVar |
| 1 | g.173914910A>C | CA343778585 | SERPINC1 | c.51T>G (p.Tyr17Ter) n.277T>G c.-94T>G (n.-94T>G) c.132T>G (p.Tyr44Ter) | |
| 1 | g.173914910A>G | CA421942697 | SERPINC1 | c.51T>C (p.Tyr17=) n.277T>C c.-94T>C (n.-94T>C) c.132T>C (p.Tyr44=) | ClinVar dbSNP |
| 1 | g.173914910A>T | CA343778586 | SERPINC1 | c.51T>A (p.Tyr17Ter) n.277T>A c.-94T>A (n.-94T>A) c.132T>A (p.Tyr44Ter) | |
| 1 | g.173914911T>A | CA343778587 | SERPINC1 | c.50A>T (p.Tyr17Phe) n.276A>T c.-95A>T (n.-95A>T) c.131A>T (p.Tyr44Phe) | |
| 1 | g.173914911T>C | CA1251474 | SERPINC1 | c.50A>G (p.Tyr17Cys) n.276A>G c.-95A>G (n.-95A>G) c.131A>G (p.Tyr44Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914911T>G | CA343778590 | SERPINC1 | c.50A>C (p.Tyr17Ser) n.276A>C c.-95A>C (n.-95A>C) c.131A>C (p.Tyr44Ser) | |
| 1 | g.173914911T= | CA1207939044 | SERPINC1 | c.50A= (p.Tyr17=) n.276A= c.-95A= (n.-95A=) c.131A= (p.Tyr44=) | |
| 1 | g.173914912A>C | CA343778592 | SERPINC1 | c.49T>G (p.Tyr17Asp) n.275T>G c.-96T>G (n.-96T>G) c.130T>G (p.Tyr44Asp) | |
| 1 | g.173914912A>G | CA343778593 | SERPINC1 | c.49T>C (p.Tyr17His) n.275T>C c.-96T>C (n.-96T>C) c.130T>C (p.Tyr44His) | |
| 1 | g.173914912A>T | CA343778595 | SERPINC1 | c.49T>A (p.Tyr17Asn) n.275T>A c.-96T>A (n.-96T>A) c.130T>A (p.Tyr44Asn) | |
| 1 | g.173914914del | CA2586964453 | SERPINC1 | c.49del (p.Tyr17IlefsTer14) n.275del c.-96del (n.-96del) c.130del (p.Tyr44IlefsTer14) | |
| 1 | g.173914913A>C | CA421942698 | SERPINC1 | c.48T>G (p.Val16=) n.274T>G c.-97T>G (n.-97T>G) c.129T>G (p.Val43=) | |
| 1 | g.173914913A>G | CA421942699 | SERPINC1 | c.48T>C (p.Val16=) n.274T>C c.-97T>C (n.-97T>C) c.129T>C (p.Val43=) | |
| 1 | g.173914913A>T | CA421942700 | SERPINC1 | c.48T>A (p.Val16=) n.274T>A c.-97T>A (n.-97T>A) c.129T>A (p.Val43=) | |
| 1 | g.173914914A= | CA1144530631 | SERPINC1 | c.47T= (p.Val16=) n.273T= c.-98T= (n.-98T=) c.128T= (p.Val43=) | |
| 1 | g.173914914A>C | CA343778597 | SERPINC1 | c.47T>G (p.Val16Gly) n.273T>G c.-98T>G (n.-98T>G) c.128T>G (p.Val43Gly) | |
| 1 | g.173914914A>G | CA1251475 | SERPINC1 | c.47T>C (p.Val16Ala) n.273T>C c.-98T>C (n.-98T>C) c.128T>C (p.Val43Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914914A>T | CA343778599 | SERPINC1 | c.47T>A (p.Val16Asp) n.273T>A c.-98T>A (n.-98T>A) c.128T>A (p.Val43Asp) | |
| 1 | g.173914915C>A | CA343778600 | SERPINC1 | c.46G>T (p.Val16Phe) n.272G>T c.-99G>T (n.-99G>T) c.127G>T (p.Val43Phe) | gnomAD v4 |
| 1 | g.173914915C= | CA1207939045 | SERPINC1 | c.46G= (p.Val16=) n.272G= c.-99G= (n.-99G=) c.127G= (p.Val43=) | |
| 1 | g.173914915C>G | CA343778602 | SERPINC1 | c.46G>C (p.Val16Leu) n.272G>C c.-99G>C (n.-99G>C) c.127G>C (p.Val43Leu) | gnomAD v4 |