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 |
|---|---|---|---|---|---|
| X | g.153694144_153694165delinsGGGCTTCATCACCGGCCTCCTC | CA2466438197 | SLC6A8 | c.1269_1290delinsGGGCTTCATCACCGGCCTCCTC (p.Glu423=) c.258-60_258-39delinsGGGCTTCATCACCGGCCTCCTC (n.258-60_258-39delinsGGGCTTCATCACCGGCCTCCTC) c.924_945delinsGGGCTTCATCACCGGCCTCCTC (p.Glu308=) c.323_344delinsGGGCTTCATCACCGGCCTCCTC n.1414_1435delinsGGGCTTCATCACCGGCCTCCTC c.1239_1260delinsGGGCTTCATCACCGGCCTCCTC (p.Glu413=) | |
| X | g.153694146_153694166del | CA519190722 | SLC6A8 | c.1271_1291del (p.Gly424_Leu430del) c.258-58_258-38del (n.258-58_258-38del) c.926_946del (p.Gly309_Leu315del) c.325_345del n.1416_1436del c.1241_1261del (p.Gly414_Leu420del) | dbSNP |
| X | g.153694154_153694174delinsACCGGCCTCCTCGACCTCCTC | CA2466438203 | SLC6A8 | c.1279_1299delinsACCGGCCTCCTCGACCTCCTC (p.Thr427=) c.258-50_258-30delinsACCGGCCTCCTCGACCTCCTC (n.258-50_258-30delinsACCGGCCTCCTCGACCTCCTC) c.934_954delinsACCGGCCTCCTCGACCTCCTC (p.Thr312=) c.333_353delinsACCGGCCTCCTCGACCTCCTC n.1424_1444delinsACCGGCCTCCTCGACCTCCTC c.1249_1269delinsACCGGCCTCCTCGACCTCCTC (p.Thr417=) | |
| X | g.153694165_153694184del | CA10603605 | SLC6A8 | c.1290_1309del (p.Asp431LeufsTer27) c.258-39_258-20del (n.258-39_258-20del) c.945_964del (p.Asp316LeufsTer27) c.344_363del n.1435_1454del c.1260_1279del (p.Asp421LeufsTer27) | ClinVar dbSNP |
| X | g.153694162_153694173delinsCCTCGACCTCCT | CA2466438208 | SLC6A8 | c.1287_1298delinsCCTCGACCTCCT (p.Leu429=) c.258-42_258-31delinsCCTCGACCTCCT (n.258-42_258-31delinsCCTCGACCTCCT) c.942_953delinsCCTCGACCTCCT (p.Leu314=) c.341_352delinsCCTCGACCTCCT n.1432_1443delinsCCTCGACCTCCT c.1257_1268delinsCCTCGACCTCCT (p.Leu419=) | |
| X | g.153694164_153694165del | CA2697544807 | SLC6A8 | c.1289_1290del (p.Leu430ArgfsTer?) c.258-40_258-39del (n.258-40_258-39del) c.944_945del (p.Leu315ArgfsTer?) c.343_344del n.1434_1435del c.1259_1260del (p.Leu420ArgfsTer?) | ClinVar |
| X | g.153694164_153694174del | CA2466438209 | SLC6A8 | c.1289_1299del (p.Leu430ProfsTer?) c.258-40_258-30del (n.258-40_258-30del) c.944_954del (p.Leu315ProfsTer?) c.343_353del n.1434_1444del c.1259_1269del (p.Leu420ProfsTer?) | ClinVar dbSNP |
| X | g.153694165C>A | CA519344850 | SLC6A8 | c.1290C>A (p.Leu430=) c.258-39C>A (n.258-39C>A) c.945C>A (p.Leu315=) c.344C>A n.1435C>A c.1260C>A (p.Leu420=) | |
| X | g.153694165C= | CA2466438210 | SLC6A8 | c.1290C= (p.Leu430=) c.258-39C= (n.258-39C=) c.945C= (p.Leu315=) c.344C= n.1435C= c.1260C= (p.Leu420=) | |
| X | g.153694165C>G | CA519344851 | SLC6A8 | c.1290C>G (p.Leu430=) c.258-39C>G (n.258-39C>G) c.945C>G (p.Leu315=) c.344C>G n.1435C>G c.1260C>G (p.Leu420=) | |
| X | g.153694165C>T | CA10549485 | SLC6A8 | c.1290C>T (p.Leu430=) c.258-39C>T (n.258-39C>T) c.945C>T (p.Leu315=) c.344C>T n.1435C>T c.1260C>T (p.Leu420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153694165dup | CA2695237924 | SLC6A8 | c.1290dup (p.Asp431ArgfsTer?) c.258-39dup (n.258-39dup) c.945dup (p.Asp316ArgfsTer?) c.344dup n.1435dup c.1260dup (p.Asp421ArgfsTer?) | |
| X | g.153694165_153694166del | CA2579729522 | SLC6A8 | c.1290_1291del (p.Asp431ProfsTer?) c.258-39_258-38del (n.258-39_258-38del) c.945_946del (p.Asp316ProfsTer?) c.344_345del n.1435_1436del c.1260_1261del (p.Asp421ProfsTer?) | |
| X | g.153694167_153694177del | CA2573159332 | SLC6A8 | c.1292_1302del (p.Asp431GlyfsTer30) c.258-37_258-27del (n.258-37_258-27del) c.947_957del (p.Asp316GlyfsTer30) c.346_356del n.1437_1447del c.1262_1272del (p.Asp421GlyfsTer30) | ClinVar dbSNP |
| X | g.153694166G>A | CA415086739 | SLC6A8 | c.1291G>A (p.Asp431Asn) c.258-38G>A (n.258-38G>A) c.946G>A (p.Asp316Asn) c.345G>A n.1436G>A c.1261G>A (p.Asp421Asn) | |
| X | g.153694166G>C | CA415086740 | SLC6A8 | c.1291G>C (p.Asp431His) c.258-38G>C (n.258-38G>C) c.946G>C (p.Asp316His) c.345G>C n.1436G>C c.1261G>C (p.Asp421His) | |
| X | g.153694166G>T | CA415086741 | SLC6A8 | c.1291G>T (p.Asp431Tyr) c.258-38G>T (n.258-38G>T) c.946G>T (p.Asp316Tyr) c.345G>T n.1436G>T c.1261G>T (p.Asp421Tyr) | |
| X | g.153694167A>C | CA415086742 | SLC6A8 | c.1292A>C (p.Asp431Ala) c.258-37A>C (n.258-37A>C) c.947A>C (p.Asp316Ala) c.346A>C n.1437A>C c.1262A>C (p.Asp421Ala) | |
| X | g.153694167A>G | CA415086743 | SLC6A8 | c.1292A>G (p.Asp431Gly) c.258-37A>G (n.258-37A>G) c.947A>G (p.Asp316Gly) c.346A>G n.1437A>G c.1262A>G (p.Asp421Gly) | |
| X | g.153694167A>T | CA415086745 | SLC6A8 | c.1292A>T (p.Asp431Val) c.258-37A>T (n.258-37A>T) c.947A>T (p.Asp316Val) c.346A>T n.1437A>T c.1262A>T (p.Asp421Val) | |
| X | g.153694168C>A | CA415086746 | SLC6A8 | c.1293C>A (p.Asp431Glu) c.258-36C>A (n.258-36C>A) c.948C>A (p.Asp316Glu) c.347C>A n.1438C>A c.1263C>A (p.Asp421Glu) | |
| X | g.153694168C= | CA2466438211 | SLC6A8 | c.1293C= (p.Asp431=) c.258-36C= (n.258-36C=) c.948C= (p.Asp316=) c.347C= n.1438C= c.1263C= (p.Asp421=) | |
| X | g.153694168C>G | CA415086747 | SLC6A8 | c.1293C>G (p.Asp431Glu) c.258-36C>G (n.258-36C>G) c.948C>G (p.Asp316Glu) c.347C>G n.1438C>G c.1263C>G (p.Asp421Glu) | |
| X | g.153694168C>T | CA10549486 | SLC6A8 | c.1293C>T (p.Asp431=) c.258-36C>T (n.258-36C>T) c.948C>T (p.Asp316=) c.347C>T n.1438C>T c.1263C>T (p.Asp421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153694174_153694184del | CA2582121421 | SLC6A8 | c.1299_1309del (p.Pro434LeufsTer27) c.258-30_258-20del (n.258-30_258-20del) c.954_964del (p.Pro319LeufsTer27) c.353_363del n.1444_1454del c.1269_1279del (p.Pro424LeufsTer27) | |
| X | g.153694169C>A | CA415086748 | SLC6A8 | c.1294C>A (p.Leu432Ile) c.258-35C>A (n.258-35C>A) c.949C>A (p.Leu317Ile) c.348C>A n.1439C>A c.1264C>A (p.Leu422Ile) | |
| X | g.153694169C>G | CA415086749 | SLC6A8 | c.1294C>G (p.Leu432Val) c.258-35C>G (n.258-35C>G) c.949C>G (p.Leu317Val) c.348C>G n.1439C>G c.1264C>G (p.Leu422Val) | ClinVar gnomAD v4 |
| X | g.153694169C>T | CA415086750 | SLC6A8 | c.1294C>T (p.Leu432Phe) c.258-35C>T (n.258-35C>T) c.949C>T (p.Leu317Phe) c.348C>T n.1439C>T c.1264C>T (p.Leu422Phe) | |
| X | g.153694170T>A | CA415086751 | SLC6A8 | c.1295T>A (p.Leu432His) c.258-34T>A (n.258-34T>A) c.950T>A (p.Leu317His) c.349T>A n.1440T>A c.1265T>A (p.Leu422His) | |
| X | g.153694170T>C | CA415086752 | SLC6A8 | c.1295T>C (p.Leu432Pro) c.258-34T>C (n.258-34T>C) c.950T>C (p.Leu317Pro) c.349T>C n.1440T>C c.1265T>C (p.Leu422Pro) | |
| X | g.153694170T>G | CA415086753 | SLC6A8 | c.1295T>G (p.Leu432Arg) c.258-34T>G (n.258-34T>G) c.950T>G (p.Leu317Arg) c.349T>G n.1440T>G c.1265T>G (p.Leu422Arg) | |
| X | g.153694171C>A | CA519344858 | SLC6A8 | c.1296C>A (p.Leu432=) c.258-33C>A (n.258-33C>A) c.951C>A (p.Leu317=) c.350C>A n.1441C>A c.1266C>A (p.Leu422=) | |
| X | g.153694171C>G | CA519344859 | SLC6A8 | c.1296C>G (p.Leu432=) c.258-33C>G (n.258-33C>G) c.951C>G (p.Leu317=) c.350C>G n.1441C>G c.1266C>G (p.Leu422=) | |
| X | g.153694171C>T | CA519344860 | SLC6A8 | c.1296C>T (p.Leu432=) c.258-33C>T (n.258-33C>T) c.951C>T (p.Leu317=) c.350C>T n.1441C>T c.1266C>T (p.Leu422=) | |
| X | g.153694172C>A | CA415086754 | SLC6A8 | c.1297C>A (p.Leu433Ile) c.258-32C>A (n.258-32C>A) c.952C>A (p.Leu318Ile) c.351C>A n.1442C>A c.1267C>A (p.Leu423Ile) | |
| X | g.153694172C= | CA2466438212 | SLC6A8 | c.1297C= (p.Leu433=) c.258-32C= (n.258-32C=) c.952C= (p.Leu318=) c.351C= n.1442C= c.1267C= (p.Leu423=) | |
| X | g.153694172C>G | CA415086755 | SLC6A8 | c.1297C>G (p.Leu433Val) c.258-32C>G (n.258-32C>G) c.952C>G (p.Leu318Val) c.351C>G n.1442C>G c.1267C>G (p.Leu423Val) | |
| X | g.153694172C>T | CA415086756 | SLC6A8 | c.1297C>T (p.Leu433Phe) c.258-32C>T (n.258-32C>T) c.952C>T (p.Leu318Phe) c.351C>T n.1442C>T c.1267C>T (p.Leu423Phe) | ClinVar dbSNP |
| X | g.153694173T>A | CA415086758 | SLC6A8 | c.1298T>A (p.Leu433His) c.258-31T>A (n.258-31T>A) c.953T>A (p.Leu318His) c.352T>A n.1443T>A c.1268T>A (p.Leu423His) | |
| X | g.153694173T>C | CA415086759 | SLC6A8 | c.1298T>C (p.Leu433Pro) c.258-31T>C (n.258-31T>C) c.953T>C (p.Leu318Pro) c.352T>C n.1443T>C c.1268T>C (p.Leu423Pro) | |
| X | g.153694173T>G | CA415086757 | SLC6A8 | c.1298T>G (p.Leu433Arg) c.258-31T>G (n.258-31T>G) c.953T>G (p.Leu318Arg) c.352T>G n.1443T>G c.1268T>G (p.Leu423Arg) | |
| X | g.153694174C>A | CA519344863 | SLC6A8 | c.1299C>A (p.Leu433=) c.258-30C>A (n.258-30C>A) c.954C>A (p.Leu318=) c.353C>A n.1444C>A c.1269C>A (p.Leu423=) | |
| X | g.153694174C= | CA2466438213 | SLC6A8 | c.1299C= (p.Leu433=) c.258-30C= (n.258-30C=) c.954C= (p.Leu318=) c.353C= n.1444C= c.1269C= (p.Leu423=) | |
| X | g.153694174C>G | CA519344864 | SLC6A8 | c.1299C>G (p.Leu433=) c.258-30C>G (n.258-30C>G) c.954C>G (p.Leu318=) c.353C>G n.1444C>G c.1269C>G (p.Leu423=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153694174C>T | CA519344862 | SLC6A8 | c.1299C>T (p.Leu433=) c.258-30C>T (n.258-30C>T) c.954C>T (p.Leu318=) c.353C>T n.1444C>T c.1269C>T (p.Leu423=) | ClinVar |
| X | g.153694176del | CA2579729523 | SLC6A8 | c.1301del (p.Pro434ArgfsTer29) c.258-28del (n.258-28del) c.956del (p.Pro319ArgfsTer29) c.355del n.1446del c.1271del (p.Pro424ArgfsTer29) | |
| X | g.153694175C>A | CA415086760 | SLC6A8 | c.1300C>A (p.Pro434Thr) c.258-29C>A (n.258-29C>A) c.955C>A (p.Pro319Thr) c.354C>A n.1445C>A c.1270C>A (p.Pro424Thr) | |
| X | g.153694175C= | CA2466438214 | SLC6A8 | c.1300C= (p.Pro434=) c.258-29C= (n.258-29C=) c.955C= (p.Pro319=) c.354C= n.1445C= c.1270C= (p.Pro424=) | |
| X | g.153694175C>G | CA415086761 | SLC6A8 | c.1300C>G (p.Pro434Ala) c.258-29C>G (n.258-29C>G) c.955C>G (p.Pro319Ala) c.354C>G n.1445C>G c.1270C>G (p.Pro424Ala) | |
| X | g.153694175C>T | CA10549487 | SLC6A8 | c.1300C>T (p.Pro434Ser) c.258-29C>T (n.258-29C>T) c.955C>T (p.Pro319Ser) c.354C>T n.1445C>T c.1270C>T (p.Pro424Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |