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.7142976C>A | CA403662587 | INSR | c.2382G>T (p.Glu794Asp) c.2346G>T (p.Glu782Asp) n.65G>T c.2460G>T (p.Glu820Asp) c.2424G>T (p.Glu808Asp) | |
| 19 | g.7142976C>G | CA403662586 | INSR | c.2382G>C (p.Glu794Asp) c.2346G>C (p.Glu782Asp) n.65G>C c.2460G>C (p.Glu820Asp) c.2424G>C (p.Glu808Asp) | |
| 19 | g.7142976C>T | CA505400366 | INSR | c.2382G>A (p.Glu794=) c.2346G>A (p.Glu782=) n.65G>A c.2460G>A (p.Glu820=) c.2424G>A (p.Glu808=) | |
| 19 | g.7142977T>A | CA403662588 | INSR | c.2381A>T (p.Glu794Val) c.2345A>T (p.Glu782Val) n.64A>T c.2459A>T (p.Glu820Val) c.2423A>T (p.Glu808Val) | |
| 19 | g.7142977T>C | CA403662589 | INSR | c.2381A>G (p.Glu794Gly) c.2345A>G (p.Glu782Gly) n.64A>G c.2459A>G (p.Glu820Gly) c.2423A>G (p.Glu808Gly) | |
| 19 | g.7142977T>G | CA403662590 | INSR | c.2381A>C (p.Glu794Ala) c.2345A>C (p.Glu782Ala) n.64A>C c.2459A>C (p.Glu820Ala) c.2423A>C (p.Glu808Ala) | |
| 19 | g.7142978C>A | CA403662591 | INSR | c.2380G>T (p.Glu794Ter) c.2344G>T (p.Glu782Ter) n.63G>T c.2458G>T (p.Glu820Ter) c.2422G>T (p.Glu808Ter) | |
| 19 | g.7142978C= | CA2320776205 | INSR | c.2380G= (p.Glu794=) c.2344G= (p.Glu782=) n.63G= c.2458G= (p.Glu820=) c.2422G= (p.Glu808=) | |
| 19 | g.7142978C>G | CA9135558 | INSR | c.2380G>C (p.Glu794Gln) c.2344G>C (p.Glu782Gln) n.63G>C c.2458G>C (p.Glu820Gln) c.2422G>C (p.Glu808Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7142978C>T | CA9135557 | INSR | c.2380G>A (p.Glu794Lys) c.2344G>A (p.Glu782Lys) n.63G>A c.2458G>A (p.Glu820Lys) c.2422G>A (p.Glu808Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7142979C>A | CA403662592 | INSR | c.2379G>T (p.Glu793Asp) c.2343G>T (p.Glu781Asp) n.62G>T c.2457G>T (p.Glu819Asp) c.2421G>T (p.Glu807Asp) | |
| 19 | g.7142979C>G | CA403662593 | INSR | c.2379G>C (p.Glu793Asp) c.2343G>C (p.Glu781Asp) n.62G>C c.2457G>C (p.Glu819Asp) c.2421G>C (p.Glu807Asp) | |
| 19 | g.7142979C>T | CA505400367 | INSR | c.2379G>A (p.Glu793=) c.2343G>A (p.Glu781=) n.62G>A c.2457G>A (p.Glu819=) c.2421G>A (p.Glu807=) | gnomAD v4 |
| 19 | g.7142980T>A | CA403662594 | INSR | c.2378A>T (p.Glu793Val) c.2342A>T (p.Glu781Val) n.61A>T c.2456A>T (p.Glu819Val) c.2420A>T (p.Glu807Val) | |
| 19 | g.7142980T>C | CA9135559 | INSR | c.2378A>G (p.Glu793Gly) c.2342A>G (p.Glu781Gly) n.61A>G c.2456A>G (p.Glu819Gly) c.2420A>G (p.Glu807Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7142980T>G | CA403662595 | INSR | c.2378A>C (p.Glu793Ala) c.2342A>C (p.Glu781Ala) n.61A>C c.2456A>C (p.Glu819Ala) c.2420A>C (p.Glu807Ala) | |
| 19 | g.7142980T= | CA2320776206 | INSR | c.2378A= (p.Glu793=) c.2342A= (p.Glu781=) n.61A= c.2456A= (p.Glu819=) c.2420A= (p.Glu807=) | |
| 19 | g.7142981C>A | CA403662596 | INSR | c.2377G>T (p.Glu793Ter) c.2341G>T (p.Glu781Ter) n.60G>T c.2455G>T (p.Glu819Ter) c.2419G>T (p.Glu807Ter) | |
| 19 | g.7142981C>G | CA403662597 | INSR | c.2377G>C (p.Glu793Gln) c.2341G>C (p.Glu781Gln) n.60G>C c.2455G>C (p.Glu819Gln) c.2419G>C (p.Glu807Gln) | |
| 19 | g.7142981C>T | CA403662598 | INSR | c.2377G>A (p.Glu793Lys) c.2341G>A (p.Glu781Lys) n.60G>A c.2455G>A (p.Glu819Lys) c.2419G>A (p.Glu807Lys) | |
| 19 | g.7142982C>A | CA505400368 | INSR | c.2376G>T (p.Pro792=) c.2340G>T (p.Pro780=) n.59G>T c.2454G>T (p.Pro818=) c.2418G>T (p.Pro806=) | |
| 19 | g.7142982C= | CA2320776208 | INSR | c.2376G= (p.Pro792=) c.2340G= (p.Pro780=) n.59G= c.2454G= (p.Pro818=) c.2418G= (p.Pro806=) | |
| 19 | g.7142982C>G | CA505400369 | INSR | c.2376G>C (p.Pro792=) c.2340G>C (p.Pro780=) n.59G>C c.2454G>C (p.Pro818=) c.2418G>C (p.Pro806=) | |
| 19 | g.7142982C>T | CA9135560 | INSR | c.2376G>A (p.Pro792=) c.2340G>A (p.Pro780=) n.59G>A c.2454G>A (p.Pro818=) c.2418G>A (p.Pro806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7142983G>A | CA9135561 | INSR | c.2375C>T (p.Pro792Leu) c.2339C>T (p.Pro780Leu) n.58C>T c.2453C>T (p.Pro818Leu) c.2417C>T (p.Pro806Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7142983G>C | CA403662600 | INSR | c.2375C>G (p.Pro792Arg) c.2339C>G (p.Pro780Arg) n.58C>G c.2453C>G (p.Pro818Arg) c.2417C>G (p.Pro806Arg) | |
| 19 | g.7142983G= | CA2320776211 | INSR | c.2375C= (p.Pro792=) c.2339C= (p.Pro780=) n.58C= c.2453C= (p.Pro818=) c.2417C= (p.Pro806=) | |
| 19 | g.7142983G>T | CA403662599 | INSR | c.2375C>A (p.Pro792Gln) c.2339C>A (p.Pro780Gln) n.58C>A c.2453C>A (p.Pro818Gln) c.2417C>A (p.Pro806Gln) | |
| 19 | g.7142984del | CA2587923309 | INSR | c.2375del (p.Pro792ArgfsTer11) c.2339del (p.Pro780ArgfsTer11) n.58del c.2453del (p.Pro818ArgfsTer11) c.2417del (p.Pro806ArgfsTer11) | gnomAD v4 |
| 19 | g.7142984G>A | CA403662601 | INSR | c.2374C>T (p.Pro792Ser) c.2338C>T (p.Pro780Ser) n.57C>T c.2452C>T (p.Pro818Ser) c.2416C>T (p.Pro806Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7142984G>C | CA403662602 | INSR | c.2374C>G (p.Pro792Ala) c.2338C>G (p.Pro780Ala) n.57C>G c.2452C>G (p.Pro818Ala) c.2416C>G (p.Pro806Ala) | dbSNP |
| 19 | g.7142984G= | CA2320776216 | INSR | c.2374C= (p.Pro792=) c.2338C= (p.Pro780=) n.57C= c.2452C= (p.Pro818=) c.2416C= (p.Pro806=) | |
| 19 | g.7142984G>T | CA403662603 | INSR | c.2374C>A (p.Pro792Thr) c.2338C>A (p.Pro780Thr) n.57C>A c.2452C>A (p.Pro818Thr) c.2416C>A (p.Pro806Thr) | |
| 19 | g.7142985A>C | CA403662604 | INSR | c.2373T>G (p.Ser791Arg) c.2337T>G (p.Ser779Arg) n.56T>G c.2451T>G (p.Ser817Arg) c.2415T>G (p.Ser805Arg) | |
| 19 | g.7142985A>G | CA505400370 | INSR | c.2373T>C (p.Ser791=) c.2337T>C (p.Ser779=) n.56T>C c.2451T>C (p.Ser817=) c.2415T>C (p.Ser805=) | |
| 19 | g.7142985A>T | CA403662605 | INSR | c.2373T>A (p.Ser791Arg) c.2337T>A (p.Ser779Arg) n.56T>A c.2451T>A (p.Ser817Arg) c.2415T>A (p.Ser805Arg) | |
| 19 | g.7142985_7142986delinsAC | CA2320776217 | INSR | c.2372_2373delinsGT (p.Ser791=) c.2336_2337delinsGT (p.Ser779=) n.55_56delinsGT c.2450_2451delinsGT (p.Ser817=) c.2414_2415delinsGT (p.Ser805=) | |
| 19 | g.7142986del | CA2320776218 | INSR | c.2372del (p.Ser791IlefsTer12) c.2336del (p.Ser779IlefsTer12) n.55del c.2450del (p.Ser817IlefsTer12) c.2414del (p.Ser805IlefsTer12) | dbSNP gnomAD v4 |
| 19 | g.7142986C>A | CA403662606 | INSR | c.2372G>T (p.Ser791Ile) c.2336G>T (p.Ser779Ile) n.55G>T c.2450G>T (p.Ser817Ile) c.2414G>T (p.Ser805Ile) | |
| 19 | g.7142986C= | CA2320776220 | INSR | c.2372G= (p.Ser791=) c.2336G= (p.Ser779=) n.55G= c.2450G= (p.Ser817=) c.2414G= (p.Ser805=) | |
| 19 | g.7142986C>G | CA403662607 | INSR | c.2372G>C (p.Ser791Thr) c.2336G>C (p.Ser779Thr) n.55G>C c.2450G>C (p.Ser817Thr) c.2414G>C (p.Ser805Thr) | dbSNP gnomAD v4 |
| 19 | g.7142986C>T | CA403662608 | INSR | c.2372G>A (p.Ser791Asn) c.2336G>A (p.Ser779Asn) n.55G>A c.2450G>A (p.Ser817Asn) c.2414G>A (p.Ser805Asn) | dbSNP |
| 19 | g.7142987T>A | CA403662609 | INSR | c.2371A>T (p.Ser791Cys) c.2335A>T (p.Ser779Cys) n.54A>T c.2449A>T (p.Ser817Cys) c.2413A>T (p.Ser805Cys) | |
| 19 | g.7142987T>C | CA403662610 | INSR | c.2371A>G (p.Ser791Gly) c.2335A>G (p.Ser779Gly) n.54A>G c.2449A>G (p.Ser817Gly) c.2413A>G (p.Ser805Gly) | |
| 19 | g.7142987T>G | CA403662611 | INSR | c.2371A>C (p.Ser791Arg) c.2335A>C (p.Ser779Arg) n.54A>C c.2449A>C (p.Ser817Arg) c.2413A>C (p.Ser805Arg) | |
| 19 | g.7142987_7143029delinsTCGTGGGCACGCTGGTCGAGGAAGTGTTGGGGAAAGCTGCCAC | CA2320776222 | INSR | c.2329_2371delinsGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACGA (p.Val777=) c.2293_2335delinsGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACGA (p.Val765=) n.12_54delinsGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACGA c.2407_2449delinsGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACGA (p.Val803=) c.2371_2413delinsGTGGCAGCTTTCCCCAACACTTCCTCGACCAGCGTGCCCACGA (p.Val791=) | |
| 19 | g.7142988C>A | CA505400371 | INSR | c.2370G>T (p.Thr790=) c.2334G>T (p.Thr778=) n.53G>T c.2448G>T (p.Thr816=) c.2412G>T (p.Thr804=) | |
| 19 | g.7142988C= | CA2320776226 | INSR | c.2370G= (p.Thr790=) c.2334G= (p.Thr778=) n.53G= c.2448G= (p.Thr816=) c.2412G= (p.Thr804=) | |
| 19 | g.7142988C>G | CA505400372 | INSR | c.2370G>C (p.Thr790=) c.2334G>C (p.Thr778=) n.53G>C c.2448G>C (p.Thr816=) c.2412G>C (p.Thr804=) | |
| 19 | g.7142988C>T | CA9135562 | INSR | c.2370G>A (p.Thr790=) c.2334G>A (p.Thr778=) n.53G>A c.2448G>A (p.Thr816=) c.2412G>A (p.Thr804=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |