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.173914698G>A | CA343777732 | SERPINC1 | c.263C>T (p.Ser88Phe) n.489C>T c.119C>T (p.Ser40Phe) c.344C>T (p.Ser115Phe) | gnomAD v4 |
| 1 | g.173914698G>C | CA343777734 | SERPINC1 | c.263C>G (p.Ser88Cys) n.489C>G c.119C>G (p.Ser40Cys) c.344C>G (p.Ser115Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914698G= | CA1207938958 | SERPINC1 | c.263C= (p.Ser88=) n.489C= c.119C= (p.Ser40=) c.344C= (p.Ser115=) | |
| 1 | g.173914698G>T | CA1251447 | SERPINC1 | c.263C>A (p.Ser88Tyr) n.489C>A c.119C>A (p.Ser40Tyr) c.344C>A (p.Ser115Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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.173914699A>C | CA343777735 | SERPINC1 | c.262T>G (p.Ser88Ala) n.488T>G c.118T>G (p.Ser40Ala) c.343T>G (p.Ser115Ala) | |
| 1 | g.173914699A>G | CA343777737 | SERPINC1 | c.262T>C (p.Ser88Pro) n.488T>C c.118T>C (p.Ser40Pro) c.343T>C (p.Ser115Pro) | |
| 1 | g.173914699A>T | CA343777739 | SERPINC1 | c.262T>A (p.Ser88Thr) n.488T>A c.118T>A (p.Ser40Thr) c.343T>A (p.Ser115Thr) | |
| 1 | g.173914700A= | CA1207938959 | SERPINC1 | c.261T= (p.Asn87=) n.487T= c.117T= (p.Asn39=) c.342T= (p.Asn114=) | |
| 1 | g.173914700A>C | CA343777741 | SERPINC1 | c.261T>G (p.Asn87Lys) n.487T>G c.117T>G (p.Asn39Lys) c.342T>G (p.Asn114Lys) | |
| 1 | g.173914700A>G | CA32782266 | SERPINC1 | c.261T>C (p.Asn87=) n.487T>C c.117T>C (p.Asn39=) c.342T>C (p.Asn114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914700A>T | CA343777742 | SERPINC1 | c.261T>A (p.Asn87Lys) n.487T>A c.117T>A (p.Asn39Lys) c.342T>A (p.Asn114Lys) | |
| 1 | g.173914700_173914702del | CA2582323034 | SERPINC1 | c.259_261del (p.Asn87del) n.485_487del c.115_117del (p.Asn39del) c.340_342del (p.Asn114del) | |
| 1 | g.173914701T>A | CA343777748 | SERPINC1 | c.260A>T (p.Asn87Ile) n.486A>T c.116A>T (p.Asn39Ile) c.341A>T (p.Asn114Ile) | |
| 1 | g.173914701T>C | CA343777746 | SERPINC1 | c.260A>G (p.Asn87Ser) n.486A>G c.116A>G (p.Asn39Ser) c.341A>G (p.Asn114Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914701T>G | CA343777745 | SERPINC1 | c.260A>C (p.Asn87Thr) n.486A>C c.116A>C (p.Asn39Thr) c.341A>C (p.Asn114Thr) | |
| 1 | g.173914702T>A | CA343777750 | SERPINC1 | c.259A>T (p.Asn87Tyr) n.485A>T c.115A>T (p.Asn39Tyr) c.340A>T (p.Asn114Tyr) | |
| 1 | g.173914702T>C | CA343777751 | SERPINC1 | c.259A>G (p.Asn87Asp) n.485A>G c.115A>G (p.Asn39Asp) c.340A>G (p.Asn114Asp) | |
| 1 | g.173914702T>G | CA343777753 | SERPINC1 | c.259A>C (p.Asn87His) n.485A>C c.115A>C (p.Asn39His) c.340A>C (p.Asn114His) | |
| 1 | g.173914703G>A | CA421943048 | SERPINC1 | c.258C>T (p.Ala86=) n.484C>T c.114C>T (p.Ala38=) c.339C>T (p.Ala113=) | |
| 1 | g.173914703G>C | CA421943049 | SERPINC1 | c.258C>G (p.Ala86=) n.484C>G c.114C>G (p.Ala38=) c.339C>G (p.Ala113=) | |
| 1 | g.173914703G>T | CA421943050 | SERPINC1 | c.258C>A (p.Ala86=) n.484C>A c.114C>A (p.Ala38=) c.339C>A (p.Ala113=) | |
| 1 | g.173914704G>A | CA343777755 | SERPINC1 | c.257C>T (p.Ala86Val) n.483C>T c.113C>T (p.Ala38Val) c.338C>T (p.Ala113Val) | |
| 1 | g.173914704G>C | CA343777756 | SERPINC1 | c.257C>G (p.Ala86Gly) n.483C>G c.113C>G (p.Ala38Gly) c.338C>G (p.Ala113Gly) | |
| 1 | g.173914704G>T | CA343777758 | SERPINC1 | c.257C>A (p.Ala86Asp) n.483C>A c.113C>A (p.Ala38Asp) c.338C>A (p.Ala113Asp) | |
| 1 | g.173914705C>A | CA343777763 | SERPINC1 | c.256G>T (p.Ala86Ser) n.482G>T c.112G>T (p.Ala38Ser) c.337G>T (p.Ala113Ser) | |
| 1 | g.173914705C>G | CA343777760 | SERPINC1 | c.256G>C (p.Ala86Pro) n.482G>C c.112G>C (p.Ala38Pro) c.337G>C (p.Ala113Pro) | |
| 1 | g.173914705C>T | CA343777761 | SERPINC1 | c.256G>A (p.Ala86Thr) n.482G>A c.112G>A (p.Ala38Thr) c.337G>A (p.Ala113Thr) | |
| 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) |