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.149482841dup | CA2573159287 | IDS | c.1561dup (p.Glu521GlyfsTer8) c.928dup (p.Glu310GlyfsTer8) c.1291dup (p.Glu431GlyfsTer8) | ClinVar dbSNP |
| X | g.149482841del | CA2739289610 | IDS | c.1561del (p.Glu521AsnfsTer28) c.928del (p.Glu310AsnfsTer28) c.1291del (p.Glu431AsnfsTer28) | |
| X | g.149482839C>A | CA519057417 | IDS | c.1560G>T (p.Gly520=) c.927G>T (p.Gly309=) c.1290G>T (p.Gly430=) | |
| X | g.149482839C= | CA2465003949 | IDS | c.1560G= (p.Gly520=) c.927G= (p.Gly309=) c.1290G= (p.Gly430=) | |
| X | g.149482839C>G | CA519057418 | IDS | c.1560G>C (p.Gly520=) c.927G>C (p.Gly309=) c.1290G>C (p.Gly430=) | |
| X | g.149482839C>T | CA10537432 | IDS | c.1560G>A (p.Gly520=) c.927G>A (p.Gly309=) c.1290G>A (p.Gly430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482840C>A | CA414517817 | IDS | c.1559G>T (p.Gly520Val) c.926G>T (p.Gly309Val) c.1289G>T (p.Gly430Val) | |
| X | g.149482840C>G | CA414517818 | IDS | c.1559G>C (p.Gly520Ala) c.926G>C (p.Gly309Ala) c.1289G>C (p.Gly430Ala) | |
| X | g.149482840C>T | CA414517819 | IDS | c.1559G>A (p.Gly520Glu) c.926G>A (p.Gly309Glu) c.1289G>A (p.Gly430Glu) | |
| X | g.149482841C>A | CA414517820 | IDS | c.1558G>T (p.Gly520Trp) c.925G>T (p.Gly309Trp) c.1288G>T (p.Gly430Trp) | |
| X | g.149482841C>G | CA414517821 | IDS | c.1558G>C (p.Gly520Arg) c.925G>C (p.Gly309Arg) c.1288G>C (p.Gly430Arg) | |
| X | g.149482841C>T | CA414517822 | IDS | c.1558G>A (p.Gly520Arg) c.925G>A (p.Gly309Arg) c.1288G>A (p.Gly430Arg) | |
| X | g.149482842T>A | CA519057419 | IDS | c.1557A>T (p.Ala519=) c.924A>T (p.Ala308=) c.1287A>T (p.Ala429=) | |
| X | g.149482842T>C | CA519057420 | IDS | c.1557A>G (p.Ala519=) c.924A>G (p.Ala308=) c.1287A>G (p.Ala429=) | |
| X | g.149482842T>G | CA519057421 | IDS | c.1557A>C (p.Ala519=) c.924A>C (p.Ala308=) c.1287A>C (p.Ala429=) | |
| X | g.149482843G>A | CA414517823 | IDS | c.1556C>T (p.Ala519Val) c.923C>T (p.Ala308Val) c.1286C>T (p.Ala429Val) | |
| X | g.149482843G>C | CA414517824 | IDS | c.1556C>G (p.Ala519Gly) c.923C>G (p.Ala308Gly) c.1286C>G (p.Ala429Gly) | |
| X | g.149482843G>T | CA414517825 | IDS | c.1556C>A (p.Ala519Glu) c.923C>A (p.Ala308Glu) c.1286C>A (p.Ala429Glu) | |
| X | g.149482844C>A | CA414517828 | IDS | c.1555G>T (p.Ala519Ser) c.922G>T (p.Ala308Ser) c.1285G>T (p.Ala429Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482844C= | CA2465003950 | IDS | c.1555G= (p.Ala519=) c.922G= (p.Ala308=) c.1285G= (p.Ala429=) | |
| X | g.149482844C>G | CA414517826 | IDS | c.1555G>C (p.Ala519Pro) c.922G>C (p.Ala308Pro) c.1285G>C (p.Ala429Pro) | |
| X | g.149482844C>T | CA414517827 | IDS | c.1555G>A (p.Ala519Thr) c.922G>A (p.Ala308Thr) c.1285G>A (p.Ala429Thr) | |
| X | g.149482845A>C | CA414517829 | IDS | c.1554T>G (p.His518Gln) c.921T>G (p.His307Gln) c.1284T>G (p.His428Gln) | |
| X | g.149482845A>G | CA519057423 | IDS | c.1554T>C (p.His518=) c.921T>C (p.His307=) c.1284T>C (p.His428=) | |
| X | g.149482845A>T | CA414517830 | IDS | c.1554T>A (p.His518Gln) c.921T>A (p.His307Gln) c.1284T>A (p.His428Gln) | |
| X | g.149482846T>A | CA414517832 | IDS | c.1553A>T (p.His518Leu) c.920A>T (p.His307Leu) c.1283A>T (p.His428Leu) | |
| X | g.149482846T>C | CA414517834 | IDS | c.1553A>G (p.His518Arg) c.920A>G (p.His307Arg) c.1283A>G (p.His428Arg) | |
| X | g.149482846T>G | CA414517835 | IDS | c.1553A>C (p.His518Pro) c.920A>C (p.His307Pro) c.1283A>C (p.His428Pro) | |
| X | g.149482847G>A | CA414517836 | IDS | c.1552C>T (p.His518Tyr) c.919C>T (p.His307Tyr) c.1282C>T (p.His428Tyr) | |
| X | g.149482847G>C | CA10537433 | IDS | c.1552C>G (p.His518Asp) c.919C>G (p.His307Asp) c.1282C>G (p.His428Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482847G= | CA2465003951 | IDS | c.1552C= (p.His518=) c.919C= (p.His307=) c.1282C= (p.His428=) | |
| X | g.149482847G>T | CA414517837 | IDS | c.1552C>A (p.His518Asn) c.919C>A (p.His307Asn) c.1282C>A (p.His428Asn) | |
| X | g.149482848G>A | CA519057426 | IDS | c.1551C>T (p.Ile517=) c.918C>T (p.Ile306=) c.1281C>T (p.Ile427=) | |
| X | g.149482848G>C | CA414517838 | IDS | c.1551C>G (p.Ile517Met) c.918C>G (p.Ile306Met) c.1281C>G (p.Ile427Met) | |
| X | g.149482848G>T | CA519057424 | IDS | c.1551C>A (p.Ile517=) c.918C>A (p.Ile306=) c.1281C>A (p.Ile427=) | |
| X | g.149482849A>C | CA414517839 | IDS | c.1550T>G (p.Ile517Ser) c.917T>G (p.Ile306Ser) c.1280T>G (p.Ile427Ser) | |
| X | g.149482849A>G | CA414517840 | IDS | c.1550T>C (p.Ile517Thr) c.917T>C (p.Ile306Thr) c.1280T>C (p.Ile427Thr) | |
| X | g.149482849A>T | CA414517841 | IDS | c.1550T>A (p.Ile517Asn) c.917T>A (p.Ile306Asn) c.1280T>A (p.Ile427Asn) | |
| X | g.149482850T>A | CA414517844 | IDS | c.1549A>T (p.Ile517Phe) c.916A>T (p.Ile306Phe) c.1279A>T (p.Ile427Phe) | |
| X | g.149482850T>C | CA414517843 | IDS | c.1549A>G (p.Ile517Val) c.916A>G (p.Ile306Val) c.1279A>G (p.Ile427Val) | dbSNP |
| X | g.149482850T>G | CA414517842 | IDS | c.1549A>C (p.Ile517Leu) c.916A>C (p.Ile306Leu) c.1279A>C (p.Ile427Leu) | |
| X | g.149482850T= | CA2465003952 | IDS | c.1549A= (p.Ile517=) c.916A= (p.Ile306=) c.1279A= (p.Ile427=) | |
| X | g.149482851G>A | CA10537434 | IDS | c.1548C>T (p.Asp516=) c.915C>T (p.Asp305=) c.1278C>T (p.Asp426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482851G>C | CA414517846 | IDS | c.1548C>G (p.Asp516Glu) c.915C>G (p.Asp305Glu) c.1278C>G (p.Asp426Glu) | |
| X | g.149482851G= | CA2465003953 | IDS | c.1548C= (p.Asp516=) c.915C= (p.Asp305=) c.1278C= (p.Asp426=) | |
| X | g.149482851G>T | CA414517845 | IDS | c.1548C>A (p.Asp516Glu) c.915C>A (p.Asp305Glu) c.1278C>A (p.Asp426Glu) | |
| X | g.149482852T>A | CA414517847 | IDS | c.1547A>T (p.Asp516Val) c.914A>T (p.Asp305Val) c.1277A>T (p.Asp426Val) | |
| X | g.149482852T>C | CA414517849 | IDS | c.1547A>G (p.Asp516Gly) c.914A>G (p.Asp305Gly) c.1277A>G (p.Asp426Gly) | |
| X | g.149482852T>G | CA414517848 | IDS | c.1547A>C (p.Asp516Ala) c.914A>C (p.Asp305Ala) c.1277A>C (p.Asp426Ala) | |
| X | g.149482853C>A | CA414517850 | IDS | c.1546G>T (p.Asp516Tyr) c.913G>T (p.Asp305Tyr) c.1276G>T (p.Asp426Tyr) |