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.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.173914698_173914718del | CA2586964441 | SERPINC1 | c.243_263del (p.Trp81_Ser88delinsCys) n.469_489del c.99_119del (p.Trp33_Ser40delinsCys) c.324_344del (p.Trp108_Ser115delinsCys) | |
| 1 | g.173914698_173914719delinsT | CA2582342990 | SERPINC1 | c.242_263delinsA (p.Trp81_Ser88delinsTyr) n.468_489delinsA c.98_119delinsA (p.Trp33_Ser40delinsTyr) c.323_344delinsA (p.Trp108_Ser115delinsTyr) | |
| 1 | g.173914706C>A | CA343777765 | SERPINC1 | c.255G>T (p.Lys85Asn) n.481G>T c.111G>T (p.Lys37Asn) c.336G>T (p.Lys112Asn) | |
| 1 | g.173914706C>G | CA343777767 | SERPINC1 | c.255G>C (p.Lys85Asn) n.481G>C c.111G>C (p.Lys37Asn) c.336G>C (p.Lys112Asn) | |
| 1 | g.173914706C>T | CA421943052 | SERPINC1 | c.255G>A (p.Lys85=) n.481G>A c.111G>A (p.Lys37=) c.336G>A (p.Lys112=) | |
| 1 | g.173914707T>A | CA343777769 | SERPINC1 | c.254A>T (p.Lys85Met) n.480A>T c.110A>T (p.Lys37Met) c.335A>T (p.Lys112Met) | |
| 1 | g.173914707T>C | CA343777770 | SERPINC1 | c.254A>G (p.Lys85Arg) n.480A>G c.110A>G (p.Lys37Arg) c.335A>G (p.Lys112Arg) | |
| 1 | g.173914707T>G | CA343777775 | SERPINC1 | c.254A>C (p.Lys85Thr) n.480A>C c.110A>C (p.Lys37Thr) c.335A>C (p.Lys112Thr) | |
| 1 | g.173914708T>A | CA343777778 | SERPINC1 | c.253A>T (p.Lys85Ter) n.479A>T c.109A>T (p.Lys37Ter) c.334A>T (p.Lys112Ter) | |
| 1 | g.173914708T>C | CA343777776 | SERPINC1 | c.253A>G (p.Lys85Glu) n.479A>G c.109A>G (p.Lys37Glu) c.334A>G (p.Lys112Glu) | |
| 1 | g.173914708T>G | CA343777777 | SERPINC1 | c.253A>C (p.Lys85Gln) n.479A>C c.109A>C (p.Lys37Gln) c.334A>C (p.Lys112Gln) | gnomAD v4 |
| 1 | g.173914709G>A | CA421943054 | SERPINC1 | c.252C>T (p.Ser84=) n.478C>T c.108C>T (p.Ser36=) c.333C>T (p.Ser111=) | dbSNP COSMIC |
| 1 | g.173914709G>C | CA421943055 | SERPINC1 | c.252C>G (p.Ser84=) n.478C>G c.108C>G (p.Ser36=) c.333C>G (p.Ser111=) | |
| 1 | g.173914709G>T | CA421943056 | SERPINC1 | c.252C>A (p.Ser84=) n.478C>A c.108C>A (p.Ser36=) c.333C>A (p.Ser111=) | |
| 1 | g.173914710G>A | CA343777779 | SERPINC1 | c.251C>T (p.Ser84Phe) n.477C>T c.107C>T (p.Ser36Phe) c.332C>T (p.Ser111Phe) | |
| 1 | g.173914710G>C | CA343777780 | SERPINC1 | c.251C>G (p.Ser84Cys) n.477C>G c.107C>G (p.Ser36Cys) c.332C>G (p.Ser111Cys) | |
| 1 | g.173914710G>T | CA343777781 | SERPINC1 | c.251C>A (p.Ser84Tyr) n.477C>A c.107C>A (p.Ser36Tyr) c.332C>A (p.Ser111Tyr) | |
| 1 | g.173914711A= | CA1207938960 | SERPINC1 | c.250T= (p.Ser84=) n.476T= c.106T= (p.Ser36=) c.331T= (p.Ser111=) | |
| 1 | g.173914711A>C | CA343777782 | SERPINC1 | c.250T>G (p.Ser84Ala) n.476T>G c.106T>G (p.Ser36Ala) c.331T>G (p.Ser111Ala) | |
| 1 | g.173914711A>G | CA343777783 | SERPINC1 | c.250T>C (p.Ser84Pro) n.476T>C c.106T>C (p.Ser36Pro) c.331T>C (p.Ser111Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914711A>T | CA343777785 | SERPINC1 | c.250T>A (p.Ser84Thr) n.476T>A c.106T>A (p.Ser36Thr) c.331T>A (p.Ser111Thr) | |
| 1 | g.173914712C>A | CA421943060 | SERPINC1 | c.249G>T (p.Leu83=) n.475G>T c.105G>T (p.Leu35=) c.330G>T (p.Leu110=) | |
| 1 | g.173914712C= | CA1207938961 | SERPINC1 | c.249G= (p.Leu83=) n.475G= c.105G= (p.Leu35=) c.330G= (p.Leu110=) | |
| 1 | g.173914712C>G | CA421943062 | SERPINC1 | c.249G>C (p.Leu83=) n.475G>C c.105G>C (p.Leu35=) c.330G>C (p.Leu110=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914712C>T | CA421943061 | SERPINC1 | c.249G>A (p.Leu83=) n.475G>A c.105G>A (p.Leu35=) c.330G>A (p.Leu110=) | |
| 1 | g.173914713A>C | CA343777787 | SERPINC1 | c.248T>G (p.Leu83Arg) n.474T>G c.104T>G (p.Leu35Arg) c.329T>G (p.Leu110Arg) | |
| 1 | g.173914713A>G | CA343777789 | SERPINC1 | c.248T>C (p.Leu83Pro) n.474T>C c.104T>C (p.Leu35Pro) c.329T>C (p.Leu110Pro) | |
| 1 | g.173914713A>T | CA343777791 | SERPINC1 | c.248T>A (p.Leu83Gln) n.474T>A c.104T>A (p.Leu35Gln) c.329T>A (p.Leu110Gln) | |
| 1 | g.173914714G>A | CA421943064 | SERPINC1 | c.247C>T (p.Leu83=) n.473C>T c.103C>T (p.Leu35=) c.328C>T (p.Leu110=) | |
| 1 | g.173914714G>C | CA343777792 | SERPINC1 | c.247C>G (p.Leu83Val) n.473C>G c.103C>G (p.Leu35Val) c.328C>G (p.Leu110Val) | |
| 1 | g.173914714G>T | CA343777793 | SERPINC1 | c.247C>A (p.Leu83Met) n.473C>A c.103C>A (p.Leu35Met) c.328C>A (p.Leu110Met) | |
| 1 | g.173914715T>A | CA343777795 | SERPINC1 | c.246A>T (p.Glu82Asp) n.472A>T c.102A>T (p.Glu34Asp) c.327A>T (p.Glu109Asp) | |
| 1 | g.173914715T>C | CA421943065 | SERPINC1 | c.246A>G (p.Glu82=) n.472A>G c.102A>G (p.Glu34=) c.327A>G (p.Glu109=) | dbSNP gnomAD v4 |
| 1 | g.173914715T>G | CA343777797 | SERPINC1 | c.246A>C (p.Glu82Asp) n.472A>C c.102A>C (p.Glu34Asp) c.327A>C (p.Glu109Asp) | |
| 1 | g.173914715T= | CA1207938962 | SERPINC1 | c.246A= (p.Glu82=) n.472A= c.102A= (p.Glu34=) c.327A= (p.Glu109=) | |
| 1 | g.173914716T>A | CA343777799 | SERPINC1 | c.245A>T (p.Glu82Val) n.471A>T c.101A>T (p.Glu34Val) c.326A>T (p.Glu109Val) | |
| 1 | g.173914716T>C | CA343777803 | SERPINC1 | c.245A>G (p.Glu82Gly) n.471A>G c.101A>G (p.Glu34Gly) c.326A>G (p.Glu109Gly) | |
| 1 | g.173914716T>G | CA343777801 | SERPINC1 | c.245A>C (p.Glu82Ala) n.471A>C c.101A>C (p.Glu34Ala) c.326A>C (p.Glu109Ala) | |
| 1 | g.173914717C>A | CA343777805 | SERPINC1 | c.244G>T (p.Glu82Ter) n.470G>T c.100G>T (p.Glu34Ter) c.325G>T (p.Glu109Ter) | ClinVar dbSNP |
| 1 | g.173914717C= | CA1207938963 | SERPINC1 | c.244G= (p.Glu82=) n.470G= c.100G= (p.Glu34=) c.325G= (p.Glu109=) | |
| 1 | g.173914717C>G | CA343777808 | SERPINC1 | c.244G>C (p.Glu82Gln) n.470G>C c.100G>C (p.Glu34Gln) c.325G>C (p.Glu109Gln) | dbSNP |
| 1 | g.173914717C>T | CA343777809 | SERPINC1 | c.244G>A (p.Glu82Lys) n.470G>A c.100G>A (p.Glu34Lys) c.325G>A (p.Glu109Lys) | dbSNP gnomAD v4 |
| 1 | g.173914718C>A | CA343777811 | SERPINC1 | c.243G>T (p.Trp81Cys) n.469G>T c.99G>T (p.Trp33Cys) c.324G>T (p.Trp108Cys) | |
| 1 | g.173914718C>G | CA343777813 | SERPINC1 | c.243G>C (p.Trp81Cys) n.469G>C c.99G>C (p.Trp33Cys) c.324G>C (p.Trp108Cys) |