WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54625148_54625538delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT | CA1785187759 | RP1 | c.1266_1656delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser422=) c.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (n.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT) c.1287_1677delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser429=) | |
| 8 | g.54625149_54625538delinsA | CA658821501 | RP1 | c.1267_1656delinsA (p.Ala423AsnfsTer11) c.787+2861_787+3250delinsA (n.787+2861_787+3250delinsA) c.1288_1677delinsA (p.Ala430AsnfsTer11) | ClinVar dbSNP |
| 8 | g.54625501T>A | CA370991007 | RP1 | c.1619T>A (p.Leu540His) c.787+3213T>A (n.787+3213T>A) c.1640T>A (p.Leu547His) | |
| 8 | g.54625501T>C | CA370991008 | RP1 | c.1619T>C (p.Leu540Pro) c.787+3213T>C (n.787+3213T>C) c.1640T>C (p.Leu547Pro) | |
| 8 | g.54625501T>G | CA370991009 | RP1 | c.1619T>G (p.Leu540Arg) c.787+3213T>G (n.787+3213T>G) c.1640T>G (p.Leu547Arg) | |
| 8 | g.54625502T>A | CA461098272 | RP1 | c.1620T>A (p.Leu540=) c.787+3214T>A (n.787+3214T>A) c.1641T>A (p.Leu547=) | |
| 8 | g.54625502T>C | CA461098270 | RP1 | c.1620T>C (p.Leu540=) c.787+3214T>C (n.787+3214T>C) c.1641T>C (p.Leu547=) | |
| 8 | g.54625502T>G | CA461098268 | RP1 | c.1620T>G (p.Leu540=) c.787+3214T>G (n.787+3214T>G) c.1641T>G (p.Leu547=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625502T= | CA1785187913 | RP1 | c.1620T= (p.Leu540=) c.787+3214T= (n.787+3214T=) c.1641T= (p.Leu547=) | |
| 8 | g.54625503A>C | CA370991013 | RP1 | c.1621A>C (p.Lys541Gln) c.787+3215A>C (n.787+3215A>C) c.1642A>C (p.Lys548Gln) | |
| 8 | g.54625503A>G | CA370991010 | RP1 | c.1621A>G (p.Lys541Glu) c.787+3215A>G (n.787+3215A>G) c.1642A>G (p.Lys548Glu) | |
| 8 | g.54625503A>T | CA370991012 | RP1 | c.1621A>T (p.Lys541Ter) c.787+3215A>T (n.787+3215A>T) c.1642A>T (p.Lys548Ter) | |
| 8 | g.54625507_54625511del | CA2695209258 | RP1 | c.1625_1629del (p.Ser542CysfsTer20) c.787+3219_787+3223del (n.787+3219_787+3223del) c.1646_1650del (p.Ser549CysfsTer20) | |
| 8 | g.54625504A>C | CA370991015 | RP1 | c.1622A>C (p.Lys541Thr) c.787+3216A>C (n.787+3216A>C) c.1643A>C (p.Lys548Thr) | |
| 8 | g.54625504A>G | CA370991016 | RP1 | c.1622A>G (p.Lys541Arg) c.787+3216A>G (n.787+3216A>G) c.1643A>G (p.Lys548Arg) | |
| 8 | g.54625504A>T | CA370991018 | RP1 | c.1622A>T (p.Lys541Met) c.787+3216A>T (n.787+3216A>T) c.1643A>T (p.Lys548Met) | |
| 8 | g.54625505G>A | CA461098277 | RP1 | c.1623G>A (p.Lys541=) c.787+3217G>A (n.787+3217G>A) c.1644G>A (p.Lys548=) | |
| 8 | g.54625505G>C | CA370991020 | RP1 | c.1623G>C (p.Lys541Asn) c.787+3217G>C (n.787+3217G>C) c.1644G>C (p.Lys548Asn) | |
| 8 | g.54625505G>T | CA370991021 | RP1 | c.1623G>T (p.Lys541Asn) c.787+3217G>T (n.787+3217G>T) c.1644G>T (p.Lys548Asn) | |
| 8 | g.54625506T>A | CA370991026 | RP1 | c.1624T>A (p.Ser542Thr) c.787+3218T>A (n.787+3218T>A) c.1645T>A (p.Ser549Thr) | |
| 8 | g.54625506T>C | CA370991023 | RP1 | c.1624T>C (p.Ser542Pro) c.787+3218T>C (n.787+3218T>C) c.1645T>C (p.Ser549Pro) | |
| 8 | g.54625506T>G | CA370991025 | RP1 | c.1624T>G (p.Ser542Ala) c.787+3218T>G (n.787+3218T>G) c.1645T>G (p.Ser549Ala) | |
| 8 | g.54625507C>A | CA370991028 | RP1 | c.1625C>A (p.Ser542Ter) c.787+3219C>A (n.787+3219C>A) c.1646C>A (p.Ser549Ter) | gnomAD v4 |
| 8 | g.54625507C= | CA1785187914 | RP1 | c.1625C= (p.Ser542=) c.787+3219C= (n.787+3219C=) c.1646C= (p.Ser549=) | |
| 8 | g.54625507C>G | CA4751409 | RP1 | c.1625C>G (p.Ser542Ter) c.787+3219C>G (n.787+3219C>G) c.1646C>G (p.Ser549Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625507C>T | CA370991030 | RP1 | c.1625C>T (p.Ser542Leu) c.787+3219C>T (n.787+3219C>T) c.1646C>T (p.Ser549Leu) | ClinVar dbSNP |
| 8 | g.54625508A>C | CA461098286 | RP1 | c.1626A>C (p.Ser542=) c.787+3220A>C (n.787+3220A>C) c.1647A>C (p.Ser549=) | |
| 8 | g.54625508A>G | CA461098287 | RP1 | c.1626A>G (p.Ser542=) c.787+3220A>G (n.787+3220A>G) c.1647A>G (p.Ser549=) | |
| 8 | g.54625508A>T | CA461098288 | RP1 | c.1626A>T (p.Ser542=) c.787+3220A>T (n.787+3220A>T) c.1647A>T (p.Ser549=) | |
| 8 | g.54625509A= | CA1785187915 | RP1 | c.1627A= (p.Ser543=) c.787+3221A= (n.787+3221A=) c.1648A= (p.Ser550=) | |
| 8 | g.54625509A>C | CA370991032 | RP1 | c.1627A>C (p.Ser543Arg) c.787+3221A>C (n.787+3221A>C) c.1648A>C (p.Ser550Arg) | COSMIC |
| 8 | g.54625509A>G | CA370991034 | RP1 | c.1627A>G (p.Ser543Gly) c.787+3221A>G (n.787+3221A>G) c.1648A>G (p.Ser550Gly) | dbSNP gnomAD v4 |
| 8 | g.54625509A>T | CA370991035 | RP1 | c.1627A>T (p.Ser543Cys) c.787+3221A>T (n.787+3221A>T) c.1648A>T (p.Ser550Cys) | |
| 8 | g.54625510G>A | CA370991037 | RP1 | c.1628G>A (p.Ser543Asn) c.787+3222G>A (n.787+3222G>A) c.1649G>A (p.Ser550Asn) | |
| 8 | g.54625510G>C | CA370991038 | RP1 | c.1628G>C (p.Ser543Thr) c.787+3222G>C (n.787+3222G>C) c.1649G>C (p.Ser550Thr) | |
| 8 | g.54625510G>T | CA370991039 | RP1 | c.1628G>T (p.Ser543Ile) c.787+3222G>T (n.787+3222G>T) c.1649G>T (p.Ser550Ile) | |
| 8 | g.54625511T>A | CA370991041 | RP1 | c.1629T>A (p.Ser543Arg) c.787+3223T>A (n.787+3223T>A) c.1650T>A (p.Ser550Arg) | |
| 8 | g.54625511T>C | CA4751410 | RP1 | c.1629T>C (p.Ser543=) c.787+3223T>C (n.787+3223T>C) c.1650T>C (p.Ser550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625511T>G | CA370991044 | RP1 | c.1629T>G (p.Ser543Arg) c.787+3223T>G (n.787+3223T>G) c.1650T>G (p.Ser550Arg) | |
| 8 | g.54625511T= | CA1785187916 | RP1 | c.1629T= (p.Ser543=) c.787+3223T= (n.787+3223T=) c.1650T= (p.Ser550=) | |
| 8 | g.54625512G>A | CA370991045 | RP1 | c.1630G>A (p.Ala544Thr) c.787+3224G>A (n.787+3224G>A) c.1651G>A (p.Ala551Thr) | |
| 8 | g.54625512G>C | CA370991048 | RP1 | c.1630G>C (p.Ala544Pro) c.787+3224G>C (n.787+3224G>C) c.1651G>C (p.Ala551Pro) | |
| 8 | g.54625512G>T | CA370991046 | RP1 | c.1630G>T (p.Ala544Ser) c.787+3224G>T (n.787+3224G>T) c.1651G>T (p.Ala551Ser) | gnomAD v4 |
| 8 | g.54625513C>A | CA370991050 | RP1 | c.1631C>A (p.Ala544Glu) c.787+3225C>A (n.787+3225C>A) c.1652C>A (p.Ala551Glu) | |
| 8 | g.54625513C>G | CA370991053 | RP1 | c.1631C>G (p.Ala544Gly) c.787+3225C>G (n.787+3225C>G) c.1652C>G (p.Ala551Gly) | |
| 8 | g.54625513C>T | CA370991051 | RP1 | c.1631C>T (p.Ala544Val) c.787+3225C>T (n.787+3225C>T) c.1652C>T (p.Ala551Val) | |
| 8 | g.54625514A= | CA1785187917 | RP1 | c.1632A= (p.Ala544=) c.787+3226A= (n.787+3226A=) c.1653A= (p.Ala551=) | |
| 8 | g.54625514A>C | CA461098294 | RP1 | c.1632A>C (p.Ala544=) c.787+3226A>C (n.787+3226A>C) c.1653A>C (p.Ala551=) | gnomAD v4 |
| 8 | g.54625514A>G | CA4751411 | RP1 | c.1632A>G (p.Ala544=) c.787+3226A>G (n.787+3226A>G) c.1653A>G (p.Ala551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625514A>T | CA461098295 | RP1 | c.1632A>T (p.Ala544=) c.787+3226A>T (n.787+3226A>T) c.1653A>T (p.Ala551=) |