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 |
|---|---|---|---|---|---|
| 16 | g.89275180_89275183del | CA2634942582 | ANKRD11 | c.7487_7490del (p.Ser2496TrpfsTer5) c.*7290_*7293del (n.*7290_*7293del) c.761_764del (p.Ser254TrpfsTer5) c.168_171del c.7385_7388del (p.Ser2462TrpfsTer5) c.7190_7193del (p.Ser2397TrpfsTer5) c.7358_7361del (p.Ser2453TrpfsTer5) | gnomAD v4 |
| 16 | g.89275185dup | CA915940401 | ANKRD11 | c.7481dup (p.Pro2495SerfsTer?) c.*7284dup (n.*7284dup) c.755dup (p.Pro253SerfsTer?) c.162dup c.7379dup (p.Pro2461SerfsTer?) c.7184dup (p.Pro2396SerfsTer?) c.7352dup (p.Pro2452SerfsTer?) | |
| 16 | g.89275185del | CA2634942583 | ANKRD11 | c.7481del (p.Pro2494LeufsTer8) c.*7284del (n.*7284del) c.755del (p.Pro252LeufsTer8) c.162del c.7379del (p.Pro2460LeufsTer8) c.7184del (p.Pro2395LeufsTer8) c.7352del (p.Pro2451LeufsTer8) | gnomAD v4 |
| 16 | g.89275182G>A | CA397147960 | ANKRD11 | c.7480C>T (p.Pro2494Ser) c.*7283C>T (n.*7283C>T) c.754C>T (p.Pro252Ser) c.161C>T c.7378C>T (p.Pro2460Ser) c.7183C>T (p.Pro2395Ser) c.7351C>T (p.Pro2451Ser) | |
| 16 | g.89275182G>C | CA397147961 | ANKRD11 | c.7480C>G (p.Pro2494Ala) c.*7283C>G (n.*7283C>G) c.754C>G (p.Pro252Ala) c.161C>G c.7378C>G (p.Pro2460Ala) c.7183C>G (p.Pro2395Ala) c.7351C>G (p.Pro2451Ala) | |
| 16 | g.89275182G= | CA2241598809 | ANKRD11 | c.7480C= (p.Pro2494=) c.*7283C= (n.*7283C=) c.754C= (p.Pro252=) c.161C= c.7378C= (p.Pro2460=) c.7183C= (p.Pro2395=) c.7351C= (p.Pro2451=) | |
| 16 | g.89275182G>T | CA16620302 | ANKRD11 | c.7480C>A (p.Pro2494Thr) c.*7283C>A (n.*7283C>A) c.754C>A (p.Pro252Thr) c.161C>A c.7378C>A (p.Pro2460Thr) c.7183C>A (p.Pro2395Thr) c.7351C>A (p.Pro2451Thr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89275183G>A | CA497168738 | ANKRD11 | c.7479C>T (p.Pro2493=) c.*7282C>T (n.*7282C>T) c.753C>T (p.Pro251=) c.160C>T c.7377C>T (p.Pro2459=) c.7182C>T (p.Pro2394=) c.7350C>T (p.Pro2450=) | dbSNP |
| 16 | g.89275183G>C | CA497168740 | ANKRD11 | c.7479C>G (p.Pro2493=) c.*7282C>G (n.*7282C>G) c.753C>G (p.Pro251=) c.160C>G c.7377C>G (p.Pro2459=) c.7182C>G (p.Pro2394=) c.7350C>G (p.Pro2450=) | gnomAD v4 |
| 16 | g.89275183G= | CA2241598810 | ANKRD11 | c.7479C= (p.Pro2493=) c.*7282C= (n.*7282C=) c.753C= (p.Pro251=) c.160C= c.7377C= (p.Pro2459=) c.7182C= (p.Pro2394=) c.7350C= (p.Pro2450=) | |
| 16 | g.89275183G>T | CA497168742 | ANKRD11 | c.7479C>A (p.Pro2493=) c.*7282C>A (n.*7282C>A) c.753C>A (p.Pro251=) c.160C>A c.7377C>A (p.Pro2459=) c.7182C>A (p.Pro2394=) c.7350C>A (p.Pro2450=) | |
| 16 | g.89275184G>A | CA397147962 | ANKRD11 | c.7478C>T (p.Pro2493Leu) c.*7281C>T (n.*7281C>T) c.752C>T (p.Pro251Leu) c.159C>T c.7376C>T (p.Pro2459Leu) c.7181C>T (p.Pro2394Leu) c.7349C>T (p.Pro2450Leu) | dbSNP gnomAD v2 |
| 16 | g.89275184G>C | CA397147963 | ANKRD11 | c.7478C>G (p.Pro2493Arg) c.*7281C>G (n.*7281C>G) c.752C>G (p.Pro251Arg) c.159C>G c.7376C>G (p.Pro2459Arg) c.7181C>G (p.Pro2394Arg) c.7349C>G (p.Pro2450Arg) | |
| 16 | g.89275184G= | CA2241598811 | ANKRD11 | c.7478C= (p.Pro2493=) c.*7281C= (n.*7281C=) c.752C= (p.Pro251=) c.159C= c.7376C= (p.Pro2459=) c.7181C= (p.Pro2394=) c.7349C= (p.Pro2450=) | |
| 16 | g.89275184G>T | CA397147964 | ANKRD11 | c.7478C>A (p.Pro2493His) c.*7281C>A (n.*7281C>A) c.752C>A (p.Pro251His) c.159C>A c.7376C>A (p.Pro2459His) c.7181C>A (p.Pro2394His) c.7349C>A (p.Pro2450His) | |
| 16 | g.89275185G>A | CA397147965 | ANKRD11 | c.7477C>T (p.Pro2493Ser) c.*7280C>T (n.*7280C>T) c.751C>T (p.Pro251Ser) c.158C>T c.7375C>T (p.Pro2459Ser) c.7180C>T (p.Pro2394Ser) c.7348C>T (p.Pro2450Ser) | gnomAD v4 |
| 16 | g.89275185G>C | CA397147966 | ANKRD11 | c.7477C>G (p.Pro2493Ala) c.*7280C>G (n.*7280C>G) c.751C>G (p.Pro251Ala) c.158C>G c.7375C>G (p.Pro2459Ala) c.7180C>G (p.Pro2394Ala) c.7348C>G (p.Pro2450Ala) | |
| 16 | g.89275185G>T | CA397147967 | ANKRD11 | c.7477C>A (p.Pro2493Thr) c.*7280C>A (n.*7280C>A) c.751C>A (p.Pro251Thr) c.158C>A c.7375C>A (p.Pro2459Thr) c.7180C>A (p.Pro2394Thr) c.7348C>A (p.Pro2450Thr) | |
| 16 | g.89275186T>A | CA497168754 | ANKRD11 | c.7476A>T (p.Ala2492=) c.*7279A>T (n.*7279A>T) c.750A>T (p.Ala250=) c.157A>T c.7374A>T (p.Ala2458=) c.7179A>T (p.Ala2393=) c.7347A>T (p.Ala2449=) | |
| 16 | g.89275186T>C | CA8241127 | ANKRD11 | c.7476A>G (p.Ala2492=) c.*7279A>G (n.*7279A>G) c.750A>G (p.Ala250=) c.157A>G c.7374A>G (p.Ala2458=) c.7179A>G (p.Ala2393=) c.7347A>G (p.Ala2449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89275186T>G | CA497168758 | ANKRD11 | c.7476A>C (p.Ala2492=) c.*7279A>C (n.*7279A>C) c.750A>C (p.Ala250=) c.157A>C c.7374A>C (p.Ala2458=) c.7179A>C (p.Ala2393=) c.7347A>C (p.Ala2449=) | dbSNP |
| 16 | g.89275186T= | CA2241598812 | ANKRD11 | c.7476A= (p.Ala2492=) c.*7279A= (n.*7279A=) c.750A= (p.Ala250=) c.157A= c.7374A= (p.Ala2458=) c.7179A= (p.Ala2393=) c.7347A= (p.Ala2449=) | |
| 16 | g.89275187G>A | CA397147969 | ANKRD11 | c.7475C>T (p.Ala2492Val) c.*7278C>T (n.*7278C>T) c.749C>T (p.Ala250Val) c.156C>T c.7373C>T (p.Ala2458Val) c.7178C>T (p.Ala2393Val) c.7346C>T (p.Ala2449Val) | |
| 16 | g.89275187G>C | CA397147970 | ANKRD11 | c.7475C>G (p.Ala2492Gly) c.*7278C>G (n.*7278C>G) c.749C>G (p.Ala250Gly) c.156C>G c.7373C>G (p.Ala2458Gly) c.7178C>G (p.Ala2393Gly) c.7346C>G (p.Ala2449Gly) | |
| 16 | g.89275187G>T | CA397147968 | ANKRD11 | c.7475C>A (p.Ala2492Glu) c.*7278C>A (n.*7278C>A) c.749C>A (p.Ala250Glu) c.156C>A c.7373C>A (p.Ala2458Glu) c.7178C>A (p.Ala2393Glu) c.7346C>A (p.Ala2449Glu) | |
| 16 | g.89275188C>A | CA397147971 | ANKRD11 | c.7474G>T (p.Ala2492Ser) c.*7277G>T (n.*7277G>T) c.748G>T (p.Ala250Ser) c.155G>T c.7372G>T (p.Ala2458Ser) c.7177G>T (p.Ala2393Ser) c.7345G>T (p.Ala2449Ser) | gnomAD v4 |
| 16 | g.89275188C>G | CA397147972 | ANKRD11 | c.7474G>C (p.Ala2492Pro) c.*7277G>C (n.*7277G>C) c.748G>C (p.Ala250Pro) c.155G>C c.7372G>C (p.Ala2458Pro) c.7177G>C (p.Ala2393Pro) c.7345G>C (p.Ala2449Pro) | |
| 16 | g.89275188C>T | CA397147973 | ANKRD11 | c.7474G>A (p.Ala2492Thr) c.*7277G>A (n.*7277G>A) c.748G>A (p.Ala250Thr) c.155G>A c.7372G>A (p.Ala2458Thr) c.7177G>A (p.Ala2393Thr) c.7345G>A (p.Ala2449Thr) | gnomAD v4 |
| 16 | g.89275189G>A | CA8241128 | ANKRD11 | c.7473C>T (p.Ile2491=) c.*7276C>T (n.*7276C>T) c.747C>T (p.Ile249=) c.154C>T c.7371C>T (p.Ile2457=) c.7176C>T (p.Ile2392=) c.7344C>T (p.Ile2448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89275189G>C | CA397147974 | ANKRD11 | c.7473C>G (p.Ile2491Met) c.*7276C>G (n.*7276C>G) c.747C>G (p.Ile249Met) c.154C>G c.7371C>G (p.Ile2457Met) c.7176C>G (p.Ile2392Met) c.7344C>G (p.Ile2448Met) | |
| 16 | g.89275189G= | CA2241598813 | ANKRD11 | c.7473C= (p.Ile2491=) c.*7276C= (n.*7276C=) c.747C= (p.Ile249=) c.154C= c.7371C= (p.Ile2457=) c.7176C= (p.Ile2392=) c.7344C= (p.Ile2448=) | |
| 16 | g.89275189G>T | CA497168770 | ANKRD11 | c.7473C>A (p.Ile2491=) c.*7276C>A (n.*7276C>A) c.747C>A (p.Ile249=) c.154C>A c.7371C>A (p.Ile2457=) c.7176C>A (p.Ile2392=) c.7344C>A (p.Ile2448=) | |
| 16 | g.89275190A>C | CA397147975 | ANKRD11 | c.7472T>G (p.Ile2491Ser) c.*7275T>G (n.*7275T>G) c.746T>G (p.Ile249Ser) c.153T>G c.7370T>G (p.Ile2457Ser) c.7175T>G (p.Ile2392Ser) c.7343T>G (p.Ile2448Ser) | |
| 16 | g.89275190A>G | CA397147976 | ANKRD11 | c.7472T>C (p.Ile2491Thr) c.*7275T>C (n.*7275T>C) c.746T>C (p.Ile249Thr) c.153T>C c.7370T>C (p.Ile2457Thr) c.7175T>C (p.Ile2392Thr) c.7343T>C (p.Ile2448Thr) | |
| 16 | g.89275190A>T | CA397147977 | ANKRD11 | c.7472T>A (p.Ile2491Asn) c.*7275T>A (n.*7275T>A) c.746T>A (p.Ile249Asn) c.153T>A c.7370T>A (p.Ile2457Asn) c.7175T>A (p.Ile2392Asn) c.7343T>A (p.Ile2448Asn) | |
| 16 | g.89275191T>A | CA397147978 | ANKRD11 | c.7471A>T (p.Ile2491Phe) c.*7274A>T (n.*7274A>T) c.745A>T (p.Ile249Phe) c.152A>T c.7369A>T (p.Ile2457Phe) c.7174A>T (p.Ile2392Phe) c.7342A>T (p.Ile2448Phe) | |
| 16 | g.89275191T>C | CA286505950 | ANKRD11 | c.7471A>G (p.Ile2491Val) c.*7274A>G (n.*7274A>G) c.745A>G (p.Ile249Val) c.152A>G c.7369A>G (p.Ile2457Val) c.7174A>G (p.Ile2392Val) c.7342A>G (p.Ile2448Val) | dbSNP |
| 16 | g.89275191T>G | CA397147979 | ANKRD11 | c.7471A>C (p.Ile2491Leu) c.*7274A>C (n.*7274A>C) c.745A>C (p.Ile249Leu) c.152A>C c.7369A>C (p.Ile2457Leu) c.7174A>C (p.Ile2392Leu) c.7342A>C (p.Ile2448Leu) | |
| 16 | g.89275191T= | CA2241598814 | ANKRD11 | c.7471A= (p.Ile2491=) c.*7274A= (n.*7274A=) c.745A= (p.Ile249=) c.152A= c.7369A= (p.Ile2457=) c.7174A= (p.Ile2392=) c.7342A= (p.Ile2448=) | |
| 16 | g.89275192C>A | CA397147981 | ANKRD11 | c.7471-1G>T (n.7471-1G>T) c.*7274-1G>T (n.*7274-1G>T) c.745-1G>T (n.745-1G>T) c.152-1G>T c.7369-1G>T (n.7369-1G>T) c.7174-1G>T (n.7174-1G>T) c.7342-1G>T (n.7342-1G>T) | gnomAD v4 |
| 16 | g.89275192C= | CA2241598815 | ANKRD11 | c.7471-1G= (n.7471-1G=) c.*7274-1G= (n.*7274-1G=) c.745-1G= (n.745-1G=) c.152-1G= c.7369-1G= (n.7369-1G=) c.7174-1G= (n.7174-1G=) c.7342-1G= (n.7342-1G=) | |
| 16 | g.89275192C>G | CA397147982 | ANKRD11 | c.7471-1G>C (n.7471-1G>C) c.*7274-1G>C (n.*7274-1G>C) c.745-1G>C (n.745-1G>C) c.152-1G>C c.7369-1G>C (n.7369-1G>C) c.7174-1G>C (n.7174-1G>C) c.7342-1G>C (n.7342-1G>C) | |
| 16 | g.89275192C>T | CA397147980 | ANKRD11 | c.7471-1G>A (n.7471-1G>A) c.*7274-1G>A (n.*7274-1G>A) c.745-1G>A (n.745-1G>A) c.152-1G>A c.7369-1G>A (n.7369-1G>A) c.7174-1G>A (n.7174-1G>A) c.7342-1G>A (n.7342-1G>A) | dbSNP gnomAD v2 |
| 16 | g.89275193T>A | CA397147983 | ANKRD11 | c.7471-2A>T (n.7471-2A>T) c.*7274-2A>T (n.*7274-2A>T) c.745-2A>T (n.745-2A>T) c.152-2A>T c.7369-2A>T (n.7369-2A>T) c.7174-2A>T (n.7174-2A>T) c.7342-2A>T (n.7342-2A>T) | |
| 16 | g.89275193T>C | CA397147984 | ANKRD11 | c.7471-2A>G (n.7471-2A>G) c.*7274-2A>G (n.*7274-2A>G) c.745-2A>G (n.745-2A>G) c.152-2A>G c.7369-2A>G (n.7369-2A>G) c.7174-2A>G (n.7174-2A>G) c.7342-2A>G (n.7342-2A>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89275193T>G | CA397147985 | ANKRD11 | c.7471-2A>C (n.7471-2A>C) c.*7274-2A>C (n.*7274-2A>C) c.745-2A>C (n.745-2A>C) c.152-2A>C c.7369-2A>C (n.7369-2A>C) c.7174-2A>C (n.7174-2A>C) c.7342-2A>C (n.7342-2A>C) | |
| 16 | g.89275193T= | CA2241598816 | ANKRD11 | c.7471-2A= (n.7471-2A=) c.*7274-2A= (n.*7274-2A=) c.745-2A= (n.745-2A=) c.152-2A= c.7369-2A= (n.7369-2A=) c.7174-2A= (n.7174-2A=) c.7342-2A= (n.7342-2A=) | |
| 16 | g.89275195C>A | CA2634942585 | ANKRD11 | c.7471-4G>T (n.7471-4G>T) c.*7274-4G>T (n.*7274-4G>T) c.745-4G>T (n.745-4G>T) c.152-4G>T c.7369-4G>T (n.7369-4G>T) c.7174-4G>T (n.7174-4G>T) c.7342-4G>T (n.7342-4G>T) | gnomAD v4 |
| 16 | g.89275195C= | CA2241598817 | ANKRD11 | c.7471-4G= (n.7471-4G=) c.*7274-4G= (n.*7274-4G=) c.745-4G= (n.745-4G=) c.152-4G= c.7369-4G= (n.7369-4G=) c.7174-4G= (n.7174-4G=) c.7342-4G= (n.7342-4G=) | |
| 16 | g.89275195C>T | CA286505951 | ANKRD11 | c.7471-4G>A (n.7471-4G>A) c.*7274-4G>A (n.*7274-4G>A) c.745-4G>A (n.745-4G>A) c.152-4G>A c.7369-4G>A (n.7369-4G>A) c.7174-4G>A (n.7174-4G>A) c.7342-4G>A (n.7342-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |