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 |
|---|---|---|---|---|---|
| 19 | g.1047307_1047318delinsTCCCTCTACCTG | CA2317482875 | ABCA7 | c.1996_2007delinsTCCCTCTACCTG (p.Ser666=) n.2676_2687delinsTCCCTCTACCTG c.1582_1593delinsTCCCTCTACCTG (p.Ser528=) n.414_425delinsTCCCTCTACCTG c.1540_1551delinsTCCCTCTACCTG (p.Ser514=) n.2214_2225delinsTCCCTCTACCTG | |
| 19 | g.1047312_1047322del | CA303995633 | ABCA7 | c.2001_2011del (p.Tyr668ArgfsTer?) n.2681_2691del c.1587_1597del (p.Tyr530ArgfsTer?) n.419_429del c.1545_1555del (p.Tyr516ArgfsTer?) n.2219_2229del | dbSNP |
| 19 | g.1047316C>A | CA402952325 | ABCA7 | c.2005C>A (p.Leu669Met) n.2685C>A c.1591C>A (p.Leu531Met) n.423C>A c.1549C>A (p.Leu517Met) n.2223C>A | |
| 19 | g.1047316C>G | CA402952326 | ABCA7 | c.2005C>G (p.Leu669Val) n.2685C>G c.1591C>G (p.Leu531Val) n.423C>G c.1549C>G (p.Leu517Val) n.2223C>G | |
| 19 | g.1047316C>T | CA504887631 | ABCA7 | c.2005C>T (p.Leu669=) n.2685C>T c.1591C>T (p.Leu531=) n.423C>T c.1549C>T (p.Leu517=) n.2223C>T | |
| 19 | g.1047317T>A | CA402952328 | ABCA7 | c.2006T>A (p.Leu669Gln) n.2686T>A c.1592T>A (p.Leu531Gln) n.424T>A c.1550T>A (p.Leu517Gln) n.2224T>A | |
| 19 | g.1047317T>C | CA402952332 | ABCA7 | c.2006T>C (p.Leu669Pro) n.2686T>C c.1592T>C (p.Leu531Pro) n.424T>C c.1550T>C (p.Leu517Pro) n.2224T>C | |
| 19 | g.1047317T>G | CA402952330 | ABCA7 | c.2006T>G (p.Leu669Arg) n.2686T>G c.1592T>G (p.Leu531Arg) n.424T>G c.1550T>G (p.Leu517Arg) n.2224T>G | |
| 19 | g.1047318G>A | CA9033270 | ABCA7 | c.2007G>A (p.Leu669=) n.2687G>A c.1593G>A (p.Leu531=) n.425G>A c.1551G>A (p.Leu517=) n.2225G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1047318G>C | CA504887632 | ABCA7 | c.2007G>C (p.Leu669=) n.2687G>C c.1593G>C (p.Leu531=) n.425G>C c.1551G>C (p.Leu517=) n.2225G>C | |
| 19 | g.1047318G= | CA2317482880 | ABCA7 | c.2007G= (p.Leu669=) n.2687G= c.1593G= (p.Leu531=) n.425G= c.1551G= (p.Leu517=) n.2225G= | |
| 19 | g.1047318G>T | CA504887633 | ABCA7 | c.2007G>T (p.Leu669=) n.2687G>T c.1593G>T (p.Leu531=) n.425G>T c.1551G>T (p.Leu517=) n.2225G>T | gnomAD v4 |
| 19 | g.1047319C>A | CA402952335 | ABCA7 | c.2008C>A (p.Pro670Thr) n.2688C>A c.1594C>A (p.Pro532Thr) n.426C>A c.1552C>A (p.Pro518Thr) n.2226C>A | |
| 19 | g.1047319C>G | CA402952336 | ABCA7 | c.2008C>G (p.Pro670Ala) n.2688C>G c.1594C>G (p.Pro532Ala) n.426C>G c.1552C>G (p.Pro518Ala) n.2226C>G | |
| 19 | g.1047319C>T | CA402952337 | ABCA7 | c.2008C>T (p.Pro670Ser) n.2688C>T c.1594C>T (p.Pro532Ser) n.426C>T c.1552C>T (p.Pro518Ser) n.2226C>T | |
| 19 | g.1047320C>A | CA402952340 | ABCA7 | c.2009C>A (p.Pro670His) n.2689C>A c.1595C>A (p.Pro532His) n.427C>A c.1553C>A (p.Pro518His) n.2227C>A | |
| 19 | g.1047320C>G | CA402952342 | ABCA7 | c.2009C>G (p.Pro670Arg) n.2689C>G c.1595C>G (p.Pro532Arg) n.427C>G c.1553C>G (p.Pro518Arg) n.2227C>G | |
| 19 | g.1047320C>T | CA402952343 | ABCA7 | c.2009C>T (p.Pro670Leu) n.2689C>T c.1595C>T (p.Pro532Leu) n.427C>T c.1553C>T (p.Pro518Leu) n.2227C>T | gnomAD v4 |
| 19 | g.1047321C>A | CA504887634 | ABCA7 | c.2010C>A (p.Pro670=) n.2690C>A c.1596C>A (p.Pro532=) n.428C>A c.1554C>A (p.Pro518=) n.2228C>A | gnomAD v4 |
| 19 | g.1047321C>G | CA504887635 | ABCA7 | c.2010C>G (p.Pro670=) n.2690C>G c.1596C>G (p.Pro532=) n.428C>G c.1554C>G (p.Pro518=) n.2228C>G | |
| 19 | g.1047321C>T | CA504887636 | ABCA7 | c.2010C>T (p.Pro670=) n.2690C>T c.1596C>T (p.Pro532=) n.428C>T c.1554C>T (p.Pro518=) n.2228C>T | |
| 19 | g.1047322T>A | CA402952350 | ABCA7 | c.2011T>A (p.Tyr671Asn) n.2691T>A c.1597T>A (p.Tyr533Asn) n.429T>A c.1555T>A (p.Tyr519Asn) n.2229T>A | |
| 19 | g.1047322T>C | CA402952346 | ABCA7 | c.2011T>C (p.Tyr671His) n.2691T>C c.1597T>C (p.Tyr533His) n.429T>C c.1555T>C (p.Tyr519His) n.2229T>C | |
| 19 | g.1047322T>G | CA402952348 | ABCA7 | c.2011T>G (p.Tyr671Asp) n.2691T>G c.1597T>G (p.Tyr533Asp) n.429T>G c.1555T>G (p.Tyr519Asp) n.2229T>G | |
| 19 | g.1047323A= | CA2317482881 | ABCA7 | c.2012A= (p.Tyr671=) n.2692A= c.1598A= (p.Tyr533=) n.430A= c.1556A= (p.Tyr519=) n.2230A= | |
| 19 | g.1047323A>C | CA402952353 | ABCA7 | c.2012A>C (p.Tyr671Ser) n.2692A>C c.1598A>C (p.Tyr533Ser) n.430A>C c.1556A>C (p.Tyr519Ser) n.2230A>C | |
| 19 | g.1047323A>G | CA9033271 | ABCA7 | c.2012A>G (p.Tyr671Cys) n.2692A>G c.1598A>G (p.Tyr533Cys) n.430A>G c.1556A>G (p.Tyr519Cys) n.2230A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1047323A>T | CA402952355 | ABCA7 | c.2012A>T (p.Tyr671Phe) n.2692A>T c.1598A>T (p.Tyr533Phe) n.430A>T c.1556A>T (p.Tyr519Phe) n.2230A>T | |
| 19 | g.1047324C>A | CA402952357 | ABCA7 | c.2013C>A (p.Tyr671Ter) n.2693C>A c.1599C>A (p.Tyr533Ter) n.431C>A c.1557C>A (p.Tyr519Ter) n.2231C>A | |
| 19 | g.1047324C= | CA2317482882 | ABCA7 | c.2013C= (p.Tyr671=) n.2693C= c.1599C= (p.Tyr533=) n.431C= c.1557C= (p.Tyr519=) n.2231C= | |
| 19 | g.1047324C>G | CA402952359 | ABCA7 | c.2013C>G (p.Tyr671Ter) n.2693C>G c.1599C>G (p.Tyr533Ter) n.431C>G c.1557C>G (p.Tyr519Ter) n.2231C>G | gnomAD v4 |
| 19 | g.1047324C>T | CA303995639 | ABCA7 | c.2013C>T (p.Tyr671=) n.2693C>T c.1599C>T (p.Tyr533=) n.431C>T c.1557C>T (p.Tyr519=) n.2231C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.1047325G>A | CA9033272 | ABCA7 | c.2014G>A (p.Val672Met) n.2694G>A c.1600G>A (p.Val534Met) n.432G>A c.1558G>A (p.Val520Met) n.2232G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1047325G>C | CA402952361 | ABCA7 | c.2014G>C (p.Val672Leu) n.2694G>C c.1600G>C (p.Val534Leu) n.432G>C c.1558G>C (p.Val520Leu) n.2232G>C | |
| 19 | g.1047325G= | CA2317482883 | ABCA7 | c.2014G= (p.Val672=) n.2694G= c.1600G= (p.Val534=) n.432G= c.1558G= (p.Val520=) n.2232G= | |
| 19 | g.1047325G>T | CA402952360 | ABCA7 | c.2014G>T (p.Val672Leu) n.2694G>T c.1600G>T (p.Val534Leu) n.432G>T c.1558G>T (p.Val520Leu) n.2232G>T | gnomAD v4 |
| 19 | g.1047326T>A | CA402952362 | ABCA7 | c.2015T>A (p.Val672Glu) n.2695T>A c.1601T>A (p.Val534Glu) n.433T>A c.1559T>A (p.Val520Glu) n.2233T>A | |
| 19 | g.1047326T>C | CA402952363 | ABCA7 | c.2015T>C (p.Val672Ala) n.2695T>C c.1601T>C (p.Val534Ala) n.433T>C c.1559T>C (p.Val520Ala) n.2233T>C | dbSNP gnomAD v4 |
| 19 | g.1047326T>G | CA402952364 | ABCA7 | c.2015T>G (p.Val672Gly) n.2695T>G c.1601T>G (p.Val534Gly) n.433T>G c.1559T>G (p.Val520Gly) n.2233T>G | |
| 19 | g.1047326T= | CA2317482884 | ABCA7 | c.2015T= (p.Val672=) n.2695T= c.1601T= (p.Val534=) n.433T= c.1559T= (p.Val520=) n.2233T= | |
| 19 | g.1047327G>A | CA504887637 | ABCA7 | c.2016G>A (p.Val672=) n.2696G>A c.1602G>A (p.Val534=) n.434G>A c.1560G>A (p.Val520=) n.2234G>A | gnomAD v4 |
| 19 | g.1047327G>C | CA504887638 | ABCA7 | c.2016G>C (p.Val672=) n.2696G>C c.1602G>C (p.Val534=) n.434G>C c.1560G>C (p.Val520=) n.2234G>C | |
| 19 | g.1047327G>T | CA504887639 | ABCA7 | c.2016G>T (p.Val672=) n.2696G>T c.1602G>T (p.Val534=) n.434G>T c.1560G>T (p.Val520=) n.2234G>T | gnomAD v4 |
| 19 | g.1047328C>A | CA402952366 | ABCA7 | c.2017C>A (p.Leu673Met) n.2697C>A c.1603C>A (p.Leu535Met) n.435C>A c.1561C>A (p.Leu521Met) n.2235C>A | gnomAD v4 |
| 19 | g.1047328C= | CA2317482885 | ABCA7 | c.2017C= (p.Leu673=) n.2697C= c.1603C= (p.Leu535=) n.435C= c.1561C= (p.Leu521=) n.2235C= | |
| 19 | g.1047328C>G | CA402952368 | ABCA7 | c.2017C>G (p.Leu673Val) n.2697C>G c.1603C>G (p.Leu535Val) n.435C>G c.1561C>G (p.Leu521Val) n.2235C>G | |
| 19 | g.1047328C>T | CA504887640 | ABCA7 | c.2017C>T (p.Leu673=) n.2697C>T c.1603C>T (p.Leu535=) n.435C>T c.1561C>T (p.Leu521=) n.2235C>T | dbSNP gnomAD v4 |
| 19 | g.1047329T>A | CA402952369 | ABCA7 | c.2018T>A (p.Leu673Gln) n.2698T>A c.1604T>A (p.Leu535Gln) n.436T>A c.1562T>A (p.Leu521Gln) n.2236T>A | |
| 19 | g.1047329T>C | CA402952370 | ABCA7 | c.2018T>C (p.Leu673Pro) n.2698T>C c.1604T>C (p.Leu535Pro) n.436T>C c.1562T>C (p.Leu521Pro) n.2236T>C | gnomAD v4 |
| 19 | g.1047329T>G | CA402952371 | ABCA7 | c.2018T>G (p.Leu673Arg) n.2698T>G c.1604T>G (p.Leu535Arg) n.436T>G c.1562T>G (p.Leu521Arg) n.2236T>G |