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.173914799A= | CA1207938993 | SERPINC1 | c.162T= (p.Ile54=) n.388T= c.18T= (p.Ile6=) c.243T= (p.Ile81=) | |
| 1 | g.173914799A>C | CA1251457 | SERPINC1 | c.162T>G (p.Ile54Met) n.388T>G c.18T>G (p.Ile6Met) c.243T>G (p.Ile81Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914799A>G | CA421943182 | SERPINC1 | c.162T>C (p.Ile54=) n.388T>C c.18T>C (p.Ile6=) c.243T>C (p.Ile81=) | |
| 1 | g.173914799A>T | CA421943184 | SERPINC1 | c.162T>A (p.Ile54=) n.388T>A c.18T>A (p.Ile6=) c.243T>A (p.Ile81=) | |
| 1 | g.173914800_173914806dup | CA2586964448 | SERPINC1 | c.156_162dup (p.Tyr55ValfsTer12) n.382_388dup c.12_18dup (p.Tyr7ValfsTer12) c.237_243dup (p.Tyr82ValfsTer12) | |
| 1 | g.173914800A>C | CA343778173 | SERPINC1 | c.161T>G (p.Ile54Ser) n.387T>G c.17T>G (p.Ile6Ser) c.242T>G (p.Ile81Ser) | |
| 1 | g.173914800A>G | CA343778170 | SERPINC1 | c.161T>C (p.Ile54Thr) n.387T>C c.17T>C (p.Ile6Thr) c.242T>C (p.Ile81Thr) | gnomAD v4 |
| 1 | g.173914800A>T | CA343778172 | SERPINC1 | c.161T>A (p.Ile54Asn) n.387T>A c.17T>A (p.Ile6Asn) c.242T>A (p.Ile81Asn) | |
| 1 | g.173914801T>A | CA343778175 | SERPINC1 | c.160A>T (p.Ile54Phe) n.386A>T c.16A>T (p.Ile6Phe) c.241A>T (p.Ile81Phe) | gnomAD v4 |
| 1 | g.173914801T>C | CA1251458 | SERPINC1 | c.160A>G (p.Ile54Val) n.386A>G c.16A>G (p.Ile6Val) c.241A>G (p.Ile81Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914801T>G | CA343778177 | SERPINC1 | c.160A>C (p.Ile54Leu) n.386A>C c.16A>C (p.Ile6Leu) c.241A>C (p.Ile81Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914801T= | CA1207938994 | SERPINC1 | c.160A= (p.Ile54=) n.386A= c.16A= (p.Ile6=) c.241A= (p.Ile81=) | |
| 1 | g.173914802G>A | CA421943187 | SERPINC1 | c.159C>T (p.Cys53=) n.385C>T c.15C>T (p.Cys5=) c.240C>T (p.Cys80=) | |
| 1 | g.173914802G>C | CA343778179 | SERPINC1 | c.159C>G (p.Cys53Trp) n.385C>G c.15C>G (p.Cys5Trp) c.240C>G (p.Cys80Trp) | |
| 1 | g.173914802G= | CA1207938995 | SERPINC1 | c.159C= (p.Cys53=) n.385C= c.15C= (p.Cys5=) c.240C= (p.Cys80=) | |
| 1 | g.173914802G>T | CA343778180 | SERPINC1 | c.159C>A (p.Cys53Ter) n.385C>A c.15C>A (p.Cys5Ter) c.240C>A (p.Cys80Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914803C>A | CA343778182 | SERPINC1 | c.158G>T (p.Cys53Phe) n.384G>T c.14G>T (p.Cys5Phe) c.239G>T (p.Cys80Phe) | |
| 1 | g.173914803C>G | CA343778186 | SERPINC1 | c.158G>C (p.Cys53Ser) n.384G>C c.14G>C (p.Cys5Ser) c.239G>C (p.Cys80Ser) | |
| 1 | g.173914803C>T | CA343778184 | SERPINC1 | c.158G>A (p.Cys53Tyr) n.384G>A c.14G>A (p.Cys5Tyr) c.239G>A (p.Cys80Tyr) | gnomAD v4 |
| 1 | g.173914804A>C | CA343778187 | SERPINC1 | c.157T>G (p.Cys53Gly) n.383T>G c.13T>G (p.Cys5Gly) c.238T>G (p.Cys80Gly) | gnomAD v4 |
| 1 | g.173914804A>G | CA343778189 | SERPINC1 | c.157T>C (p.Cys53Arg) n.383T>C c.13T>C (p.Cys5Arg) c.238T>C (p.Cys80Arg) | |
| 1 | g.173914804A>T | CA343778190 | SERPINC1 | c.157T>A (p.Cys53Ser) n.383T>A c.13T>A (p.Cys5Ser) c.238T>A (p.Cys80Ser) | |
| 1 | g.173914805C>A | CA343778192 | SERPINC1 | c.156G>T (p.Met52Ile) n.382G>T c.12G>T (p.Met4Ile) c.237G>T (p.Met79Ile) | |
| 1 | g.173914805C>G | CA343778193 | SERPINC1 | c.156G>C (p.Met52Ile) n.382G>C c.12G>C (p.Met4Ile) c.237G>C (p.Met79Ile) | gnomAD v4 |
| 1 | g.173914805C>T | CA343778195 | SERPINC1 | c.156G>A (p.Met52Ile) n.382G>A c.12G>A (p.Met4Ile) c.237G>A (p.Met79Ile) | gnomAD v4 |
| 1 | g.173914805_173914806delinsCA | CA1207938996 | SERPINC1 | c.155_156delinsTG (p.Met52=) n.381_382delinsTG c.11_12delinsTG (p.Met4=) c.236_237delinsTG (p.Met79=) | |
| 1 | g.173914806del | CA915943679 | SERPINC1 | c.155del (p.Met52SerfsTer?) n.381del c.11del (p.Met4SerfsTer?) c.236del (p.Met79SerfsTer?) | ClinVar dbSNP |
| 1 | g.173914806A= | CA1207938997 | SERPINC1 | c.155T= (p.Met52=) n.381T= c.11T= (p.Met4=) c.236T= (p.Met79=) | |
| 1 | g.173914806A>C | CA343778197 | SERPINC1 | c.155T>G (p.Met52Arg) n.381T>G c.11T>G (p.Met4Arg) c.236T>G (p.Met79Arg) | |
| 1 | g.173914806A>G | CA32782320 | SERPINC1 | c.155T>C (p.Met52Thr) n.381T>C c.11T>C (p.Met4Thr) c.236T>C (p.Met79Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914806A>T | CA343778199 | SERPINC1 | c.155T>A (p.Met52Lys) n.381T>A c.11T>A (p.Met4Lys) c.236T>A (p.Met79Lys) | |
| 1 | g.173914807T>A | CA343778200 | SERPINC1 | c.154A>T (p.Met52Leu) n.380A>T c.10A>T (p.Met4Leu) c.235A>T (p.Met79Leu) | dbSNP |
| 1 | g.173914807T>C | CA343778202 | SERPINC1 | c.154A>G (p.Met52Val) n.380A>G c.10A>G (p.Met4Val) c.235A>G (p.Met79Val) | gnomAD v4 |
| 1 | g.173914807T>G | CA343778204 | SERPINC1 | c.154A>C (p.Met52Leu) n.380A>C c.10A>C (p.Met4Leu) c.235A>C (p.Met79Leu) | |
| 1 | g.173914807T= | CA1207938998 | SERPINC1 | c.154A= (p.Met52=) n.380A= c.10A= (p.Met4=) c.235A= (p.Met79=) | |
| 1 | g.173914808G>A | CA421943193 | SERPINC1 | c.153C>T (p.Pro51=) n.379C>T c.9C>T (p.Pro3=) c.234C>T (p.Pro78=) | |
| 1 | g.173914808G>C | CA421943195 | SERPINC1 | c.153C>G (p.Pro51=) n.379C>G c.9C>G (p.Pro3=) c.234C>G (p.Pro78=) | |
| 1 | g.173914808G>T | CA421943194 | SERPINC1 | c.153C>A (p.Pro51=) n.379C>A c.9C>A (p.Pro3=) c.234C>A (p.Pro78=) | |
| 1 | g.173914809G>A | CA1251459 | SERPINC1 | c.152C>T (p.Pro51Leu) n.378C>T c.8C>T (p.Pro3Leu) c.233C>T (p.Pro78Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914809G>C | CA343778207 | SERPINC1 | c.152C>G (p.Pro51Arg) n.378C>G c.8C>G (p.Pro3Arg) c.233C>G (p.Pro78Arg) | |
| 1 | g.173914809G= | CA1148255635 | SERPINC1 | c.152C= (p.Pro51=) n.378C= c.8C= (p.Pro3=) c.233C= (p.Pro78=) | |
| 1 | g.173914809G>T | CA343778206 | SERPINC1 | c.152C>A (p.Pro51His) n.378C>A c.8C>A (p.Pro3His) c.233C>A (p.Pro78His) | |
| 1 | g.173914810G>A | CA343778208 | SERPINC1 | c.151C>T (p.Pro51Ser) n.377C>T c.7C>T (p.Pro3Ser) c.232C>T (p.Pro78Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914810G>C | CA343778210 | SERPINC1 | c.151C>G (p.Pro51Ala) n.377C>G c.7C>G (p.Pro3Ala) c.232C>G (p.Pro78Ala) |