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.173914800_173914806dup | CA2586964448 | SERPINC1 | c.156_162dup (p.Tyr55ValfsTer12) n.382_388dup c.12_18dup (p.Tyr7ValfsTer12) c.237_243dup (p.Tyr82ValfsTer12) | |
| 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) | |
| 1 | g.173914810G= | CA1207938999 | SERPINC1 | c.151C= (p.Pro51=) n.377C= c.7C= (p.Pro3=) c.232C= (p.Pro78=) | |
| 1 | g.173914810G>T | CA343778212 | SERPINC1 | c.151C>A (p.Pro51Thr) n.377C>A c.7C>A (p.Pro3Thr) c.232C>A (p.Pro78Thr) | |
| 1 | g.173914811A>C | CA343778213 | SERPINC1 | c.150T>G (p.Asn50Lys) n.376T>G c.6T>G (p.Asn2Lys) c.231T>G (p.Asn77Lys) | |
| 1 | g.173914811A>G | CA421943198 | SERPINC1 | c.150T>C (p.Asn50=) n.376T>C c.6T>C (p.Asn2=) c.231T>C (p.Asn77=) | |
| 1 | g.173914811A>T | CA343778215 | SERPINC1 | c.150T>A (p.Asn50Lys) n.376T>A c.6T>A (p.Asn2Lys) c.231T>A (p.Asn77Lys) | |
| 1 | g.173914812T>A | CA343778220 | SERPINC1 | c.149A>T (p.Asn50Ile) n.375A>T c.5A>T (p.Asn2Ile) c.230A>T (p.Asn77Ile) | |
| 1 | g.173914812T>C | CA343778218 | SERPINC1 | c.149A>G (p.Asn50Ser) n.375A>G c.5A>G (p.Asn2Ser) c.230A>G (p.Asn77Ser) | |
| 1 | g.173914812T>G | CA343778217 | SERPINC1 | c.149A>C (p.Asn50Thr) n.375A>C c.5A>C (p.Asn2Thr) c.230A>C (p.Asn77Thr) | |
| 1 | g.173914813T>A | CA343778222 | SERPINC1 | c.148A>T (p.Asn50Tyr) n.374A>T c.4A>T (p.Asn2Tyr) c.229A>T (p.Asn77Tyr) | |
| 1 | g.173914813T>C | CA343778223 | SERPINC1 | c.148A>G (p.Asn50Asp) n.374A>G c.4A>G (p.Asn2Asp) c.229A>G (p.Asn77Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914813T>G | CA343778224 | SERPINC1 | c.148A>C (p.Asn50His) n.374A>C c.4A>C (p.Asn2His) c.229A>C (p.Asn77His) | |
| 1 | g.173914813T= | CA1207939000 | SERPINC1 | c.148A= (p.Asn50=) n.374A= c.4A= (p.Asn2=) c.229A= (p.Asn77=) | |
| 1 | g.173914814C>A | CA343778226 | SERPINC1 | c.147G>T (p.Met49Ile) n.373G>T c.3G>T (p.Met1Ile) c.228G>T (p.Met76Ile) | |
| 1 | g.173914814C>G | CA343778228 | SERPINC1 | c.147G>C (p.Met49Ile) n.373G>C c.3G>C (p.Met1Ile) c.228G>C (p.Met76Ile) | |
| 1 | g.173914814C>T | CA343778230 | SERPINC1 | c.147G>A (p.Met49Ile) n.373G>A c.3G>A (p.Met1Ile) c.228G>A (p.Met76Ile) | COSMIC |
| 1 | g.173914815A>C | CA343778235 | SERPINC1 | c.146T>G (p.Met49Arg) n.372T>G c.2T>G (p.Met1Arg) c.227T>G (p.Met76Arg) | |
| 1 | g.173914815A>G | CA343778231 | SERPINC1 | c.146T>C (p.Met49Thr) n.372T>C c.2T>C (p.Met1Thr) c.227T>C (p.Met76Thr) | |
| 1 | g.173914815A>T | CA343778233 | SERPINC1 | c.146T>A (p.Met49Lys) n.372T>A c.2T>A (p.Met1Lys) c.227T>A (p.Met76Lys) | |
| 1 | g.173914816T>A | CA343778237 | SERPINC1 | c.145A>T (p.Met49Leu) n.371A>T c.1A>T (p.Met1Leu) c.226A>T (p.Met76Leu) | |
| 1 | g.173914816T>C | CA343778238 | SERPINC1 | c.145A>G (p.Met49Val) n.371A>G c.1A>G (p.Met1Val) c.226A>G (p.Met76Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914816T>G | CA343778240 | SERPINC1 | c.145A>C (p.Met49Leu) n.371A>C c.1A>C (p.Met1Leu) c.226A>C (p.Met76Leu) | |
| 1 | g.173914816T= | CA1207939001 | SERPINC1 | c.145A= (p.Met49=) n.371A= c.1A= (p.Met1=) c.226A= (p.Met76=) | |
| 1 | g.173914817G>A | CA421943204 | SERPINC1 | c.144C>T (p.Pro48=) n.370C>T c.-1C>T (n.-1C>T) c.225C>T (p.Pro75=) | |
| 1 | g.173914817G>C | CA421943205 | SERPINC1 | c.144C>G (p.Pro48=) n.370C>G c.-1C>G (n.-1C>G) c.225C>G (p.Pro75=) |