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.21577623_21577639del | CA913072859 | ALPL | c.1550_1566del (p.Leu517ProfsTer?) n.819_835del c.625_641del c.1319_1335del (p.Leu440ProfsTer?) c.1385_1401del (p.Leu462ProfsTer?) c.1394_1410del (p.Leu465ProfsTer?) | |
| 1 | g.21577623_21577639delinsTCTACCCCCTGAGCGTC | CA1158020249 | ALPL | c.1550_1566delinsTCTACCCCCTGAGCGTC (p.Leu517=) n.819_835delinsTCTACCCCCTGAGCGTC c.625_641delinsTCTACCCCCTGAGCGTC c.1319_1335delinsTCTACCCCCTGAGCGTC (p.Leu440=) c.1385_1401delinsTCTACCCCCTGAGCGTC (p.Leu462=) c.1394_1410delinsTCTACCCCCTGAGCGTC (p.Leu465=) | |
| 1 | g.21577626_21577641del | CA666880 | ALPL | c.1553_1568del (p.Tyr518CysfsTer?) n.822_837del c.628_643del c.1322_1337del (p.Tyr441CysfsTer?) c.1388_1403del (p.Tyr463CysfsTer?) c.1397_1412del (p.Tyr466CysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577630_21577632del | CA913072860 | ALPL | c.1557_1559del (p.Leu520del) n.826_828del c.632_634del c.1326_1328del (p.Leu443del) c.1392_1394del (p.Leu465del) c.1401_1403del (p.Leu468del) | |
| 1 | g.21577630_21577632delinsCCT | CA1158020253 | ALPL | c.1557_1559delinsCCT (p.Pro519=) n.826_828delinsCCT c.632_634delinsCCT c.1326_1328delinsCCT (p.Pro442=) c.1392_1394delinsCCT (p.Pro464=) c.1401_1403delinsCCT (p.Pro467=) | |
| 1 | g.21577631_21577632del | CA658656892 | ALPL | c.1558_1559del (p.Leu520GlufsTer?) n.827_828del c.633_634del c.1327_1328del (p.Leu443GlufsTer?) c.1393_1394del (p.Leu465GlufsTer?) c.1402_1403del (p.Leu468GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21577631_21577632delinsCT | CA1158020254 | ALPL | c.1558_1559delinsCT (p.Leu520=) n.827_828delinsCT c.633_634delinsCT c.1327_1328delinsCT (p.Leu443=) c.1393_1394delinsCT (p.Leu465=) c.1402_1403delinsCT (p.Leu468=) | |
| 1 | g.21577632del | CA256931 | ALPL | c.1559del (p.Leu520ArgfsTer?) n.828del c.634del c.1328del (p.Leu443ArgfsTer?) c.1394del (p.Leu465ArgfsTer?) c.1403del (p.Leu468ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577632T>A | CA338882683 | ALPL | c.1559T>A (p.Leu520Gln) n.828T>A c.634T>A c.1328T>A (p.Leu443Gln) c.1394T>A (p.Leu465Gln) c.1403T>A (p.Leu468Gln) | gnomAD v4 |
| 1 | g.21577632T>C | CA338882686 | ALPL | c.1559T>C (p.Leu520Pro) n.828T>C c.634T>C c.1328T>C (p.Leu443Pro) c.1394T>C (p.Leu465Pro) c.1403T>C (p.Leu468Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21577632T>G | CA338882687 | ALPL | c.1559T>G (p.Leu520Arg) n.828T>G c.634T>G c.1328T>G (p.Leu443Arg) c.1394T>G (p.Leu465Arg) c.1403T>G (p.Leu468Arg) | |
| 1 | g.21577632T= | CA1144228701 | ALPL | c.1559T= (p.Leu520=) n.828T= c.634T= c.1328T= (p.Leu443=) c.1394T= (p.Leu465=) c.1403T= (p.Leu468=) | |
| 1 | g.21577633G>A | CA666886 | ALPL | c.1560G>A (p.Leu520=) n.829G>A c.635G>A c.1329G>A (p.Leu443=) c.1395G>A (p.Leu465=) c.1404G>A (p.Leu468=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21577633G>C | CA416677799 | ALPL | c.1560G>C (p.Leu520=) n.829G>C c.635G>C c.1329G>C (p.Leu443=) c.1395G>C (p.Leu465=) c.1404G>C (p.Leu468=) | |
| 1 | g.21577633G= | CA1158020256 | ALPL | c.1560G= (p.Leu520=) n.829G= c.635G= c.1329G= (p.Leu443=) c.1395G= (p.Leu465=) c.1404G= (p.Leu468=) | |
| 1 | g.21577633G>T | CA416677800 | ALPL | c.1560G>T (p.Leu520=) n.829G>T c.635G>T c.1329G>T (p.Leu443=) c.1395G>T (p.Leu465=) c.1404G>T (p.Leu468=) | gnomAD v4 |
| 1 | g.21577634A>C | CA338882699 | ALPL | c.1561A>C (p.Ser521Arg) n.830A>C c.636A>C c.1330A>C (p.Ser444Arg) c.1396A>C (p.Ser466Arg) c.1405A>C (p.Ser469Arg) | |
| 1 | g.21577634A>G | CA338882698 | ALPL | c.1561A>G (p.Ser521Gly) n.830A>G c.636A>G c.1330A>G (p.Ser444Gly) c.1396A>G (p.Ser466Gly) c.1405A>G (p.Ser469Gly) | |
| 1 | g.21577634A>T | CA338882697 | ALPL | c.1561A>T (p.Ser521Cys) n.830A>T c.636A>T c.1330A>T (p.Ser444Cys) c.1396A>T (p.Ser466Cys) c.1405A>T (p.Ser469Cys) | |
| 1 | g.21577635G>A | CA666887 | ALPL | c.1562G>A (p.Ser521Asn) n.831G>A c.637G>A c.1331G>A (p.Ser444Asn) c.1397G>A (p.Ser466Asn) c.1406G>A (p.Ser469Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577635G>C | CA338882703 | ALPL | c.1562G>C (p.Ser521Thr) n.831G>C c.637G>C c.1331G>C (p.Ser444Thr) c.1397G>C (p.Ser466Thr) c.1406G>C (p.Ser469Thr) | |
| 1 | g.21577635G= | CA1143589171 | ALPL | c.1562G= (p.Ser521=) n.831G= c.637G= c.1331G= (p.Ser444=) c.1397G= (p.Ser466=) c.1406G= (p.Ser469=) | |
| 1 | g.21577635G>T | CA338882706 | ALPL | c.1562G>T (p.Ser521Ile) n.831G>T c.637G>T c.1331G>T (p.Ser444Ile) c.1397G>T (p.Ser466Ile) c.1406G>T (p.Ser469Ile) | |
| 1 | g.21577636C>A | CA338882708 | ALPL | c.1563C>A (p.Ser521Arg) n.832C>A c.638C>A c.1332C>A (p.Ser444Arg) c.1398C>A (p.Ser466Arg) c.1407C>A (p.Ser469Arg) | gnomAD v4 |
| 1 | g.21577636C= | CA1143765014 | ALPL | c.1563C= (p.Ser521=) n.832C= c.638C= c.1332C= (p.Ser444=) c.1398C= (p.Ser466=) c.1407C= (p.Ser469=) | |
| 1 | g.21577636C>G | CA666888 | ALPL | c.1563C>G (p.Ser521Arg) n.832C>G c.638C>G c.1332C>G (p.Ser444Arg) c.1398C>G (p.Ser466Arg) c.1407C>G (p.Ser469Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577636C>T | CA416677804 | ALPL | c.1563C>T (p.Ser521=) n.832C>T c.638C>T c.1332C>T (p.Ser444=) c.1398C>T (p.Ser466=) c.1407C>T (p.Ser469=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577637G>A | CA666889 | ALPL | c.1564G>A (p.Val522Ile) n.833G>A c.639G>A c.1333G>A (p.Val445Ile) c.1399G>A (p.Val467Ile) c.1408G>A (p.Val470Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21577637G>C | CA338882713 | ALPL | c.1564G>C (p.Val522Leu) n.833G>C c.639G>C c.1333G>C (p.Val445Leu) c.1399G>C (p.Val467Leu) c.1408G>C (p.Val470Leu) | |
| 1 | g.21577637G= | CA1143853956 | ALPL | c.1564G= (p.Val522=) n.833G= c.639G= c.1333G= (p.Val445=) c.1399G= (p.Val467=) c.1408G= (p.Val470=) | |
| 1 | g.21577637G>T | CA338882715 | ALPL | c.1564G>T (p.Val522Phe) n.833G>T c.639G>T c.1333G>T (p.Val445Phe) c.1399G>T (p.Val467Phe) c.1408G>T (p.Val470Phe) | dbSNP gnomAD v4 |
| 1 | g.21577638T>A | CA338882718 | ALPL | c.1565T>A (p.Val522Asp) n.834T>A c.640T>A c.1334T>A (p.Val445Asp) c.1400T>A (p.Val467Asp) c.1409T>A (p.Val470Asp) | |
| 1 | g.21577638T>C | CA200901 | ALPL | c.1565T>C (p.Val522Ala) n.834T>C c.640T>C c.1334T>C (p.Val445Ala) c.1400T>C (p.Val467Ala) c.1409T>C (p.Val470Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577638T>G | CA338882720 | ALPL | c.1565T>G (p.Val522Gly) n.834T>G c.640T>G c.1334T>G (p.Val445Gly) c.1400T>G (p.Val467Gly) c.1409T>G (p.Val470Gly) | |
| 1 | g.21577638T= | CA1140528672 | ALPL | c.1565T= (p.Val522=) n.834T= c.640T= c.1334T= (p.Val445=) c.1400T= (p.Val467=) c.1409T= (p.Val470=) | |
| 1 | g.21577639C>A | CA416677805 | ALPL | c.1566C>A (p.Val522=) n.835C>A c.641C>A c.1335C>A (p.Val445=) c.1401C>A (p.Val467=) c.1410C>A (p.Val470=) | gnomAD v4 |
| 1 | g.21577639C>G | CA416677807 | ALPL | c.1566C>G (p.Val522=) n.835C>G c.641C>G c.1335C>G (p.Val445=) c.1401C>G (p.Val467=) c.1410C>G (p.Val470=) | |
| 1 | g.21577639C>T | CA416677806 | ALPL | c.1566C>T (p.Val522=) n.835C>T c.641C>T c.1335C>T (p.Val445=) c.1401C>T (p.Val467=) c.1410C>T (p.Val470=) | |
| 1 | g.21577640C>A | CA338882722 | ALPL | c.1567C>A (p.Leu523Met) n.836C>A c.642C>A c.1336C>A (p.Leu446Met) c.1402C>A (p.Leu468Met) c.1411C>A (p.Leu471Met) | dbSNP gnomAD v4 |
| 1 | g.21577640C= | CA1158020257 | ALPL | c.1567C= (p.Leu523=) n.836C= c.642C= c.1336C= (p.Leu446=) c.1402C= (p.Leu468=) c.1411C= (p.Leu471=) | |
| 1 | g.21577640C>G | CA338882725 | ALPL | c.1567C>G (p.Leu523Val) n.836C>G c.642C>G c.1336C>G (p.Leu446Val) c.1402C>G (p.Leu468Val) c.1411C>G (p.Leu471Val) | |
| 1 | g.21577640C>T | CA416677810 | ALPL | c.1567C>T (p.Leu523=) n.836C>T c.642C>T c.1336C>T (p.Leu446=) c.1402C>T (p.Leu468=) c.1411C>T (p.Leu471=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21577641T>A | CA338882729 | ALPL | c.1568T>A (p.Leu523Gln) n.837T>A c.643T>A c.1337T>A (p.Leu446Gln) c.1403T>A (p.Leu468Gln) c.1412T>A (p.Leu471Gln) | |
| 1 | g.21577641T>C | CA338882731 | ALPL | c.1568T>C (p.Leu523Pro) n.837T>C c.643T>C c.1337T>C (p.Leu446Pro) c.1403T>C (p.Leu468Pro) c.1412T>C (p.Leu471Pro) | |
| 1 | g.21577641T>G | CA338882727 | ALPL | c.1568T>G (p.Leu523Arg) n.837T>G c.643T>G c.1337T>G (p.Leu446Arg) c.1403T>G (p.Leu468Arg) c.1412T>G (p.Leu471Arg) | |
| 1 | g.21577642G>A | CA416677812 | ALPL | c.1569G>A (p.Leu523=) n.838G>A c.644G>A c.1338G>A (p.Leu446=) c.1404G>A (p.Leu468=) c.1413G>A (p.Leu471=) | |
| 1 | g.21577642G>C | CA416677814 | ALPL | c.1569G>C (p.Leu523=) n.838G>C c.644G>C c.1338G>C (p.Leu446=) c.1404G>C (p.Leu468=) c.1413G>C (p.Leu471=) | ClinVar |
| 1 | g.21577642G>T | CA416677813 | ALPL | c.1569G>T (p.Leu523=) n.838G>T c.644G>T c.1338G>T (p.Leu446=) c.1404G>T (p.Leu468=) c.1413G>T (p.Leu471=) | gnomAD v4 |
| 1 | g.21577643T>A | CA338882735 | ALPL | c.1570T>A (p.Phe524Ile) n.839T>A c.645T>A c.1339T>A (p.Phe447Ile) c.1405T>A (p.Phe469Ile) c.1414T>A (p.Phe472Ile) | |
| 1 | g.21577643T>C | CA338882740 | ALPL | c.1570T>C (p.Phe524Leu) n.839T>C c.645T>C c.1339T>C (p.Phe447Leu) c.1405T>C (p.Phe469Leu) c.1414T>C (p.Phe472Leu) |