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 |
|---|---|---|---|---|---|
| 22 | g.50731038C>A | CA515267291 | SHANK3 | c.4550C>A (p.Pro1517Gln) n.5134C>A c.3602C>A (p.Pro1201Gln) c.3092C>A (p.Pro1031Gln) c.*3548C>A (n.*3548C>A) c.365C>A (p.Pro122Gln) c.4919C>A (p.Pro1640Gln) c.4901C>A (p.Pro1634Gln) | |
| 22 | g.50731038C>G | CA515267292 | SHANK3 | c.4550C>G (p.Pro1517Arg) n.5134C>G c.3602C>G (p.Pro1201Arg) c.3092C>G (p.Pro1031Arg) c.*3548C>G (n.*3548C>G) c.365C>G (p.Pro122Arg) c.4919C>G (p.Pro1640Arg) c.4901C>G (p.Pro1634Arg) | |
| 22 | g.50731038C>T | CA515267293 | SHANK3 | c.4550C>T (p.Pro1517Leu) n.5134C>T c.3602C>T (p.Pro1201Leu) c.3092C>T (p.Pro1031Leu) c.*3548C>T (n.*3548C>T) c.365C>T (p.Pro122Leu) c.4919C>T (p.Pro1640Leu) c.4901C>T (p.Pro1634Leu) | gnomAD v4 |
| 22 | g.50731039G>A | CA515267294 | SHANK3 | c.4551G>A (p.Pro1517=) n.5135G>A c.3603G>A (p.Pro1201=) c.3093G>A (p.Pro1031=) c.*3549G>A (n.*3549G>A) c.366G>A (p.Pro122=) c.4920G>A (p.Pro1640=) c.4902G>A (p.Pro1634=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50731039G>C | CA515267295 | SHANK3 | c.4551G>C (p.Pro1517=) n.5135G>C c.3603G>C (p.Pro1201=) c.3093G>C (p.Pro1031=) c.*3549G>C (n.*3549G>C) c.366G>C (p.Pro122=) c.4920G>C (p.Pro1640=) c.4902G>C (p.Pro1634=) | |
| 22 | g.50731039G= | CA2411013141 | SHANK3 | c.4551G= (p.Pro1517=) n.5135G= c.3603G= (p.Pro1201=) c.3093G= (p.Pro1031=) c.*3549G= (n.*3549G=) c.366G= (p.Pro122=) c.4920G= (p.Pro1640=) c.4902G= (p.Pro1634=) | |
| 22 | g.50731039G>T | CA515267296 | SHANK3 | c.4551G>T (p.Pro1517=) n.5135G>T c.3603G>T (p.Pro1201=) c.3093G>T (p.Pro1031=) c.*3549G>T (n.*3549G>T) c.366G>T (p.Pro122=) c.4920G>T (p.Pro1640=) c.4902G>T (p.Pro1634=) | gnomAD v4 |
| 22 | g.50731040C>A | CA515267297 | SHANK3 | c.4552C>A (p.Leu1518Met) n.5136C>A c.3604C>A (p.Leu1202Met) c.3094C>A (p.Leu1032Met) c.*3550C>A (n.*3550C>A) c.367C>A (p.Leu123Met) c.4921C>A (p.Leu1641Met) c.4903C>A (p.Leu1635Met) | gnomAD v4 |
| 22 | g.50731040C>G | CA515267298 | SHANK3 | c.4552C>G (p.Leu1518Val) n.5136C>G c.3604C>G (p.Leu1202Val) c.3094C>G (p.Leu1032Val) c.*3550C>G (n.*3550C>G) c.367C>G (p.Leu123Val) c.4921C>G (p.Leu1641Val) c.4903C>G (p.Leu1635Val) | |
| 22 | g.50731040C>T | CA515267300 | SHANK3 | c.4552C>T (p.Leu1518=) n.5136C>T c.3604C>T (p.Leu1202=) c.3094C>T (p.Leu1032=) c.*3550C>T (n.*3550C>T) c.367C>T (p.Leu123=) c.4921C>T (p.Leu1641=) c.4903C>T (p.Leu1635=) | gnomAD v4 |
| 22 | g.50731041T>A | CA515267301 | SHANK3 | c.4553T>A (p.Leu1518Gln) n.5137T>A c.3605T>A (p.Leu1202Gln) c.3095T>A (p.Leu1032Gln) c.*3551T>A (n.*3551T>A) c.368T>A (p.Leu123Gln) c.4922T>A (p.Leu1641Gln) c.4904T>A (p.Leu1635Gln) | |
| 22 | g.50731041T>C | CA515267302 | SHANK3 | c.4553T>C (p.Leu1518Pro) n.5137T>C c.3605T>C (p.Leu1202Pro) c.3095T>C (p.Leu1032Pro) c.*3551T>C (n.*3551T>C) c.368T>C (p.Leu123Pro) c.4922T>C (p.Leu1641Pro) c.4904T>C (p.Leu1635Pro) | gnomAD v4 |
| 22 | g.50731041T>G | CA515267303 | SHANK3 | c.4553T>G (p.Leu1518Arg) n.5137T>G c.3605T>G (p.Leu1202Arg) c.3095T>G (p.Leu1032Arg) c.*3551T>G (n.*3551T>G) c.368T>G (p.Leu123Arg) c.4922T>G (p.Leu1641Arg) c.4904T>G (p.Leu1635Arg) | |
| 22 | g.50731042G>A | CA515267306 | SHANK3 | c.4554G>A (p.Leu1518=) n.5138G>A c.3606G>A (p.Leu1202=) c.3096G>A (p.Leu1032=) c.*3552G>A (n.*3552G>A) c.369G>A (p.Leu123=) c.4923G>A (p.Leu1641=) c.4905G>A (p.Leu1635=) | dbSNP gnomAD v4 |
| 22 | g.50731042G>C | CA515267305 | SHANK3 | c.4554G>C (p.Leu1518=) n.5138G>C c.3606G>C (p.Leu1202=) c.3096G>C (p.Leu1032=) c.*3552G>C (n.*3552G>C) c.369G>C (p.Leu123=) c.4923G>C (p.Leu1641=) c.4905G>C (p.Leu1635=) | |
| 22 | g.50731042G= | CA2411013142 | SHANK3 | c.4554G= (p.Leu1518=) n.5138G= c.3606G= (p.Leu1202=) c.3096G= (p.Leu1032=) c.*3552G= (n.*3552G=) c.369G= (p.Leu123=) c.4923G= (p.Leu1641=) c.4905G= (p.Leu1635=) | |
| 22 | g.50731042G>T | CA515267304 | SHANK3 | c.4554G>T (p.Leu1518=) n.5138G>T c.3606G>T (p.Leu1202=) c.3096G>T (p.Leu1032=) c.*3552G>T (n.*3552G>T) c.369G>T (p.Leu123=) c.4923G>T (p.Leu1641=) c.4905G>T (p.Leu1635=) | gnomAD v4 |
| 22 | g.50731043C>A | CA515267307 | SHANK3 | c.4555C>A (p.Pro1519Thr) n.5139C>A c.3607C>A (p.Pro1203Thr) c.3097C>A (p.Pro1033Thr) c.*3553C>A (n.*3553C>A) c.370C>A (p.Pro124Thr) c.4924C>A (p.Pro1642Thr) c.4906C>A (p.Pro1636Thr) | gnomAD v4 |
| 22 | g.50731043C>G | CA515267308 | SHANK3 | c.4555C>G (p.Pro1519Ala) n.5139C>G c.3607C>G (p.Pro1203Ala) c.3097C>G (p.Pro1033Ala) c.*3553C>G (n.*3553C>G) c.370C>G (p.Pro124Ala) c.4924C>G (p.Pro1642Ala) c.4906C>G (p.Pro1636Ala) | |
| 22 | g.50731043C>T | CA515267309 | SHANK3 | c.4555C>T (p.Pro1519Ser) n.5139C>T c.3607C>T (p.Pro1203Ser) c.3097C>T (p.Pro1033Ser) c.*3553C>T (n.*3553C>T) c.370C>T (p.Pro124Ser) c.4924C>T (p.Pro1642Ser) c.4906C>T (p.Pro1636Ser) | gnomAD v4 |
| 22 | g.50731044C>A | CA515267312 | SHANK3 | c.4556C>A (p.Pro1519His) n.5140C>A c.3608C>A (p.Pro1203His) c.3098C>A (p.Pro1033His) c.*3554C>A (n.*3554C>A) c.371C>A (p.Pro124His) c.4925C>A (p.Pro1642His) c.4907C>A (p.Pro1636His) | gnomAD v4 |
| 22 | g.50731044C>G | CA515267313 | SHANK3 | c.4556C>G (p.Pro1519Arg) n.5140C>G c.3608C>G (p.Pro1203Arg) c.3098C>G (p.Pro1033Arg) c.*3554C>G (n.*3554C>G) c.371C>G (p.Pro124Arg) c.4925C>G (p.Pro1642Arg) c.4907C>G (p.Pro1636Arg) | |
| 22 | g.50731044C>T | CA515267315 | SHANK3 | c.4556C>T (p.Pro1519Leu) n.5140C>T c.3608C>T (p.Pro1203Leu) c.3098C>T (p.Pro1033Leu) c.*3554C>T (n.*3554C>T) c.371C>T (p.Pro124Leu) c.4925C>T (p.Pro1642Leu) c.4907C>T (p.Pro1636Leu) | ClinVar |
| 22 | g.50731045C>A | CA515267318 | SHANK3 | c.4557C>A (p.Pro1519=) n.5141C>A c.3609C>A (p.Pro1203=) c.3099C>A (p.Pro1033=) c.*3555C>A (n.*3555C>A) c.372C>A (p.Pro124=) c.4926C>A (p.Pro1642=) c.4908C>A (p.Pro1636=) | gnomAD v4 |
| 22 | g.50731045C= | CA2411013143 | SHANK3 | c.4557C= (p.Pro1519=) n.5141C= c.3609C= (p.Pro1203=) c.3099C= (p.Pro1033=) c.*3555C= (n.*3555C=) c.372C= (p.Pro124=) c.4926C= (p.Pro1642=) c.4908C= (p.Pro1636=) | |
| 22 | g.50731045C>G | CA515267319 | SHANK3 | c.4557C>G (p.Pro1519=) n.5141C>G c.3609C>G (p.Pro1203=) c.3099C>G (p.Pro1033=) c.*3555C>G (n.*3555C>G) c.372C>G (p.Pro124=) c.4926C>G (p.Pro1642=) c.4908C>G (p.Pro1636=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50731045C>T | CA515267320 | SHANK3 | c.4557C>T (p.Pro1519=) n.5141C>T c.3609C>T (p.Pro1203=) c.3099C>T (p.Pro1033=) c.*3555C>T (n.*3555C>T) c.372C>T (p.Pro124=) c.4926C>T (p.Pro1642=) c.4908C>T (p.Pro1636=) | dbSNP gnomAD v4 |
| 22 | g.50731046T>A | CA515267321 | SHANK3 | c.4558T>A (p.Ser1520Thr) n.5142T>A c.3610T>A (p.Ser1204Thr) c.3100T>A (p.Ser1034Thr) c.*3556T>A (n.*3556T>A) c.373T>A (p.Ser125Thr) c.4927T>A (p.Ser1643Thr) c.4909T>A (p.Ser1637Thr) | gnomAD v4 |
| 22 | g.50731046T>C | CA515267322 | SHANK3 | c.4558T>C (p.Ser1520Pro) n.5142T>C c.3610T>C (p.Ser1204Pro) c.3100T>C (p.Ser1034Pro) c.*3556T>C (n.*3556T>C) c.373T>C (p.Ser125Pro) c.4927T>C (p.Ser1643Pro) c.4909T>C (p.Ser1637Pro) | |
| 22 | g.50731046T>G | CA515267323 | SHANK3 | c.4558T>G (p.Ser1520Ala) n.5142T>G c.3610T>G (p.Ser1204Ala) c.3100T>G (p.Ser1034Ala) c.*3556T>G (n.*3556T>G) c.373T>G (p.Ser125Ala) c.4927T>G (p.Ser1643Ala) c.4909T>G (p.Ser1637Ala) | |
| 22 | g.50731047C>A | CA515267324 | SHANK3 | c.4559C>A (p.Ser1520Ter) n.5143C>A c.3611C>A (p.Ser1204Ter) c.3101C>A (p.Ser1034Ter) c.*3557C>A (n.*3557C>A) c.374C>A (p.Ser125Ter) c.4928C>A (p.Ser1643Ter) c.4910C>A (p.Ser1637Ter) | gnomAD v4 |
| 22 | g.50731047C= | CA2411013144 | SHANK3 | c.4559C= (p.Ser1520=) n.5143C= c.3611C= (p.Ser1204=) c.3101C= (p.Ser1034=) c.*3557C= (n.*3557C=) c.374C= (p.Ser125=) c.4928C= (p.Ser1643=) c.4910C= (p.Ser1637=) | |
| 22 | g.50731047C>G | CA515267328 | SHANK3 | c.4559C>G (p.Ser1520Trp) n.5143C>G c.3611C>G (p.Ser1204Trp) c.3101C>G (p.Ser1034Trp) c.*3557C>G (n.*3557C>G) c.374C>G (p.Ser125Trp) c.4928C>G (p.Ser1643Trp) c.4910C>G (p.Ser1637Trp) | |
| 22 | g.50731047C>T | CA515267326 | SHANK3 | c.4559C>T (p.Ser1520Leu) n.5143C>T c.3611C>T (p.Ser1204Leu) c.3101C>T (p.Ser1034Leu) c.*3557C>T (n.*3557C>T) c.374C>T (p.Ser125Leu) c.4928C>T (p.Ser1643Leu) c.4910C>T (p.Ser1637Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50731048G>A | CA515267330 | SHANK3 | c.4560G>A (p.Ser1520=) n.5144G>A c.3612G>A (p.Ser1204=) c.3102G>A (p.Ser1034=) c.*3558G>A (n.*3558G>A) c.375G>A (p.Ser125=) c.4929G>A (p.Ser1643=) c.4911G>A (p.Ser1637=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50731048G>C | CA515267332 | SHANK3 | c.4560G>C (p.Ser1520=) n.5144G>C c.3612G>C (p.Ser1204=) c.3102G>C (p.Ser1034=) c.*3558G>C (n.*3558G>C) c.375G>C (p.Ser125=) c.4929G>C (p.Ser1643=) c.4911G>C (p.Ser1637=) | |
| 22 | g.50731048G= | CA2411013145 | SHANK3 | c.4560G= (p.Ser1520=) n.5144G= c.3612G= (p.Ser1204=) c.3102G= (p.Ser1034=) c.*3558G= (n.*3558G=) c.375G= (p.Ser125=) c.4929G= (p.Ser1643=) c.4911G= (p.Ser1637=) | |
| 22 | g.50731048G>T | CA515267331 | SHANK3 | c.4560G>T (p.Ser1520=) n.5144G>T c.3612G>T (p.Ser1204=) c.3102G>T (p.Ser1034=) c.*3558G>T (n.*3558G>T) c.375G>T (p.Ser125=) c.4929G>T (p.Ser1643=) c.4911G>T (p.Ser1637=) | gnomAD v4 |
| 22 | g.50731049C>A | CA515267333 | SHANK3 | c.4561C>A (p.Pro1521Thr) n.5145C>A c.3613C>A (p.Pro1205Thr) c.3103C>A (p.Pro1035Thr) c.*3559C>A (n.*3559C>A) c.376C>A (p.Pro126Thr) c.4930C>A (p.Pro1644Thr) c.4912C>A (p.Pro1638Thr) | |
| 22 | g.50731049C>G | CA515267334 | SHANK3 | c.4561C>G (p.Pro1521Ala) n.5145C>G c.3613C>G (p.Pro1205Ala) c.3103C>G (p.Pro1035Ala) c.*3559C>G (n.*3559C>G) c.376C>G (p.Pro126Ala) c.4930C>G (p.Pro1644Ala) c.4912C>G (p.Pro1638Ala) | |
| 22 | g.50731049C>T | CA515267335 | SHANK3 | c.4561C>T (p.Pro1521Ser) n.5145C>T c.3613C>T (p.Pro1205Ser) c.3103C>T (p.Pro1035Ser) c.*3559C>T (n.*3559C>T) c.376C>T (p.Pro126Ser) c.4930C>T (p.Pro1644Ser) c.4912C>T (p.Pro1638Ser) | |
| 22 | g.50731050C>A | CA515267336 | SHANK3 | c.4562C>A (p.Pro1521His) n.5146C>A c.3614C>A (p.Pro1205His) c.3104C>A (p.Pro1035His) c.*3560C>A (n.*3560C>A) c.377C>A (p.Pro126His) c.4931C>A (p.Pro1644His) c.4913C>A (p.Pro1638His) | |
| 22 | g.50731050C= | CA2411013146 | SHANK3 | c.4562C= (p.Pro1521=) n.5146C= c.3614C= (p.Pro1205=) c.3104C= (p.Pro1035=) c.*3560C= (n.*3560C=) c.377C= (p.Pro126=) c.4931C= (p.Pro1644=) c.4913C= (p.Pro1638=) | |
| 22 | g.50731050C>G | CA515267337 | SHANK3 | c.4562C>G (p.Pro1521Arg) n.5146C>G c.3614C>G (p.Pro1205Arg) c.3104C>G (p.Pro1035Arg) c.*3560C>G (n.*3560C>G) c.377C>G (p.Pro126Arg) c.4931C>G (p.Pro1644Arg) c.4913C>G (p.Pro1638Arg) | gnomAD v4 |
| 22 | g.50731050C>T | CA515267339 | SHANK3 | c.4562C>T (p.Pro1521Leu) n.5146C>T c.3614C>T (p.Pro1205Leu) c.3104C>T (p.Pro1035Leu) c.*3560C>T (n.*3560C>T) c.377C>T (p.Pro126Leu) c.4931C>T (p.Pro1644Leu) c.4913C>T (p.Pro1638Leu) | dbSNP gnomAD v4 |
| 22 | g.50731051C>A | CA515267344 | SHANK3 | c.4563C>A (p.Pro1521=) n.5147C>A c.3615C>A (p.Pro1205=) c.3105C>A (p.Pro1035=) c.*3561C>A (n.*3561C>A) c.378C>A (p.Pro126=) c.4932C>A (p.Pro1644=) c.4914C>A (p.Pro1638=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50731051C= | CA2411013147 | SHANK3 | c.4563C= (p.Pro1521=) n.5147C= c.3615C= (p.Pro1205=) c.3105C= (p.Pro1035=) c.*3561C= (n.*3561C=) c.378C= (p.Pro126=) c.4932C= (p.Pro1644=) c.4914C= (p.Pro1638=) | |
| 22 | g.50731051C>G | CA515267343 | SHANK3 | c.4563C>G (p.Pro1521=) n.5147C>G c.3615C>G (p.Pro1205=) c.3105C>G (p.Pro1035=) c.*3561C>G (n.*3561C>G) c.378C>G (p.Pro126=) c.4932C>G (p.Pro1644=) c.4914C>G (p.Pro1638=) | |
| 22 | g.50731051C>T | CA10326347 | SHANK3 | c.4563C>T (p.Pro1521=) n.5147C>T c.3615C>T (p.Pro1205=) c.3105C>T (p.Pro1035=) c.*3561C>T (n.*3561C>T) c.378C>T (p.Pro126=) c.4932C>T (p.Pro1644=) c.4914C>T (p.Pro1638=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50731052G>A | CA515267345 | SHANK3 | c.4564G>A (p.Ala1522Thr) n.5148G>A c.3616G>A (p.Ala1206Thr) c.3106G>A (p.Ala1036Thr) c.*3562G>A (n.*3562G>A) c.379G>A (p.Ala127Thr) c.4933G>A (p.Ala1645Thr) c.4915G>A (p.Ala1639Thr) | dbSNP gnomAD v4 |