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 |
|---|---|---|---|---|---|
| 16 | g.89275110G>A | CA10603346 | ANKRD11 | c.7552C>T (p.Gln2518Ter) c.*7355C>T (n.*7355C>T) c.826C>T (p.Gln276Ter) n.9C>T c.233C>T c.7450C>T (p.Gln2484Ter) c.7255C>T (p.Gln2419Ter) c.7423C>T (p.Gln2475Ter) | ClinVar dbSNP |
| 16 | g.89275110G>C | CA397147816 | ANKRD11 | c.7552C>G (p.Gln2518Glu) c.*7355C>G (n.*7355C>G) c.826C>G (p.Gln276Glu) n.9C>G c.233C>G c.7450C>G (p.Gln2484Glu) c.7255C>G (p.Gln2419Glu) c.7423C>G (p.Gln2475Glu) | |
| 16 | g.89275110G= | CA2241598774 | ANKRD11 | c.7552C= (p.Gln2518=) c.*7355C= (n.*7355C=) c.826C= (p.Gln276=) n.9C= c.233C= c.7450C= (p.Gln2484=) c.7255C= (p.Gln2419=) c.7423C= (p.Gln2475=) | |
| 16 | g.89275110G>T | CA397147817 | ANKRD11 | c.7552C>A (p.Gln2518Lys) c.*7355C>A (n.*7355C>A) c.826C>A (p.Gln276Lys) n.9C>A c.233C>A c.7450C>A (p.Gln2484Lys) c.7255C>A (p.Gln2419Lys) c.7423C>A (p.Gln2475Lys) | |
| 16 | g.89275111T>A | CA497167945 | ANKRD11 | c.7551A>T (p.Leu2517=) c.*7354A>T (n.*7354A>T) c.825A>T (p.Leu275=) n.8A>T c.232A>T c.7449A>T (p.Leu2483=) c.7254A>T (p.Leu2418=) c.7422A>T (p.Leu2474=) | |
| 16 | g.89275111T>C | CA497167947 | ANKRD11 | c.7551A>G (p.Leu2517=) c.*7354A>G (n.*7354A>G) c.825A>G (p.Leu275=) n.8A>G c.232A>G c.7449A>G (p.Leu2483=) c.7254A>G (p.Leu2418=) c.7422A>G (p.Leu2474=) | |
| 16 | g.89275111T>G | CA497167949 | ANKRD11 | c.7551A>C (p.Leu2517=) c.*7354A>C (n.*7354A>C) c.825A>C (p.Leu275=) n.8A>C c.232A>C c.7449A>C (p.Leu2483=) c.7254A>C (p.Leu2418=) c.7422A>C (p.Leu2474=) | |
| 16 | g.89275112A>C | CA397147818 | ANKRD11 | c.7550T>G (p.Leu2517Arg) c.*7353T>G (n.*7353T>G) c.824T>G (p.Leu275Arg) n.7T>G c.231T>G c.7448T>G (p.Leu2483Arg) c.7253T>G (p.Leu2418Arg) c.7421T>G (p.Leu2474Arg) | |
| 16 | g.89275112A>G | CA397147819 | ANKRD11 | c.7550T>C (p.Leu2517Pro) c.*7353T>C (n.*7353T>C) c.824T>C (p.Leu275Pro) n.7T>C c.231T>C c.7448T>C (p.Leu2483Pro) c.7253T>C (p.Leu2418Pro) c.7421T>C (p.Leu2474Pro) | |
| 16 | g.89275112A>T | CA397147820 | ANKRD11 | c.7550T>A (p.Leu2517Gln) c.*7353T>A (n.*7353T>A) c.824T>A (p.Leu275Gln) n.7T>A c.231T>A c.7448T>A (p.Leu2483Gln) c.7253T>A (p.Leu2418Gln) c.7421T>A (p.Leu2474Gln) | |
| 16 | g.89275113G>A | CA497167957 | ANKRD11 | c.7549C>T (p.Leu2517=) c.*7352C>T (n.*7352C>T) c.823C>T (p.Leu275=) n.6C>T c.230C>T c.7447C>T (p.Leu2483=) c.7252C>T (p.Leu2418=) c.7420C>T (p.Leu2474=) | |
| 16 | g.89275113G>C | CA397147821 | ANKRD11 | c.7549C>G (p.Leu2517Val) c.*7352C>G (n.*7352C>G) c.823C>G (p.Leu275Val) n.6C>G c.230C>G c.7447C>G (p.Leu2483Val) c.7252C>G (p.Leu2418Val) c.7420C>G (p.Leu2474Val) | |
| 16 | g.89275113G>T | CA397147822 | ANKRD11 | c.7549C>A (p.Leu2517Ile) c.*7352C>A (n.*7352C>A) c.823C>A (p.Leu275Ile) n.6C>A c.230C>A c.7447C>A (p.Leu2483Ile) c.7252C>A (p.Leu2418Ile) c.7420C>A (p.Leu2474Ile) | |
| 16 | g.89275114A= | CA2241598775 | ANKRD11 | c.7548T= (p.Arg2516=) c.*7351T= (n.*7351T=) c.822T= (p.Arg274=) n.5T= c.229T= c.7446T= (p.Arg2482=) c.7251T= (p.Arg2417=) c.7419T= (p.Arg2473=) | |
| 16 | g.89275114A>C | CA8241112 | ANKRD11 | c.7548T>G (p.Arg2516=) c.*7351T>G (n.*7351T>G) c.822T>G (p.Arg274=) n.5T>G c.229T>G c.7446T>G (p.Arg2482=) c.7251T>G (p.Arg2417=) c.7419T>G (p.Arg2473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89275114A>G | CA497167964 | ANKRD11 | c.7548T>C (p.Arg2516=) c.*7351T>C (n.*7351T>C) c.822T>C (p.Arg274=) n.5T>C c.229T>C c.7446T>C (p.Arg2482=) c.7251T>C (p.Arg2417=) c.7419T>C (p.Arg2473=) | |
| 16 | g.89275114A>T | CA497167966 | ANKRD11 | c.7548T>A (p.Arg2516=) c.*7351T>A (n.*7351T>A) c.822T>A (p.Arg274=) n.5T>A c.229T>A c.7446T>A (p.Arg2482=) c.7251T>A (p.Arg2417=) c.7419T>A (p.Arg2473=) | |
| 16 | g.89275115C>A | CA397147825 | ANKRD11 | c.7547G>T (p.Arg2516Leu) c.*7350G>T (n.*7350G>T) c.821G>T (p.Arg274Leu) n.4G>T c.228G>T c.7445G>T (p.Arg2482Leu) c.7250G>T (p.Arg2417Leu) c.7418G>T (p.Arg2473Leu) | dbSNP |
| 16 | g.89275115C= | CA2241598776 | ANKRD11 | c.7547G= (p.Arg2516=) c.*7350G= (n.*7350G=) c.821G= (p.Arg274=) n.4G= c.228G= c.7445G= (p.Arg2482=) c.7250G= (p.Arg2417=) c.7418G= (p.Arg2473=) | |
| 16 | g.89275115C>G | CA397147823 | ANKRD11 | c.7547G>C (p.Arg2516Pro) c.*7350G>C (n.*7350G>C) c.821G>C (p.Arg274Pro) n.4G>C c.228G>C c.7445G>C (p.Arg2482Pro) c.7250G>C (p.Arg2417Pro) c.7418G>C (p.Arg2473Pro) | gnomAD v4 |
| 16 | g.89275115C>T | CA397147824 | ANKRD11 | c.7547G>A (p.Arg2516His) c.*7350G>A (n.*7350G>A) c.821G>A (p.Arg274His) n.4G>A c.228G>A c.7445G>A (p.Arg2482His) c.7250G>A (p.Arg2417His) c.7418G>A (p.Arg2473His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89275116G>A | CA8241113 | ANKRD11 | c.7546C>T (p.Arg2516Cys) c.*7349C>T (n.*7349C>T) c.820C>T (p.Arg274Cys) n.3C>T c.227C>T c.7444C>T (p.Arg2482Cys) c.7249C>T (p.Arg2417Cys) c.7417C>T (p.Arg2473Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89275116G>C | CA397147826 | ANKRD11 | c.7546C>G (p.Arg2516Gly) c.*7349C>G (n.*7349C>G) c.820C>G (p.Arg274Gly) n.3C>G c.227C>G c.7444C>G (p.Arg2482Gly) c.7249C>G (p.Arg2417Gly) c.7417C>G (p.Arg2473Gly) | |
| 16 | g.89275116G= | CA2241598777 | ANKRD11 | c.7546C= (p.Arg2516=) c.*7349C= (n.*7349C=) c.820C= (p.Arg274=) n.3C= c.227C= c.7444C= (p.Arg2482=) c.7249C= (p.Arg2417=) c.7417C= (p.Arg2473=) | |
| 16 | g.89275116G>T | CA397147827 | ANKRD11 | c.7546C>A (p.Arg2516Ser) c.*7349C>A (n.*7349C>A) c.820C>A (p.Arg274Ser) n.3C>A c.227C>A c.7444C>A (p.Arg2482Ser) c.7249C>A (p.Arg2417Ser) c.7417C>A (p.Arg2473Ser) | gnomAD v4 |
| 16 | g.89275117C>A | CA497167980 | ANKRD11 | c.7545G>T (p.Leu2515=) c.*7348G>T (n.*7348G>T) c.819G>T (p.Leu273=) n.2G>T c.226G>T c.7443G>T (p.Leu2481=) c.7248G>T (p.Leu2416=) c.7416G>T (p.Leu2472=) | |
| 16 | g.89275117C>G | CA497167981 | ANKRD11 | c.7545G>C (p.Leu2515=) c.*7348G>C (n.*7348G>C) c.819G>C (p.Leu273=) n.2G>C c.226G>C c.7443G>C (p.Leu2481=) c.7248G>C (p.Leu2416=) c.7416G>C (p.Leu2472=) | |
| 16 | g.89275117C>T | CA497167984 | ANKRD11 | c.7545G>A (p.Leu2515=) c.*7348G>A (n.*7348G>A) c.819G>A (p.Leu273=) n.2G>A c.226G>A c.7443G>A (p.Leu2481=) c.7248G>A (p.Leu2416=) c.7416G>A (p.Leu2472=) | gnomAD v4 |
| 16 | g.89275118A>C | CA397147828 | ANKRD11 | c.7544T>G (p.Leu2515Arg) c.*7347T>G (n.*7347T>G) c.818T>G (p.Leu273Arg) n.1T>G c.225T>G c.7442T>G (p.Leu2481Arg) c.7247T>G (p.Leu2416Arg) c.7415T>G (p.Leu2472Arg) | |
| 16 | g.89275118A>G | CA397147829 | ANKRD11 | c.7544T>C (p.Leu2515Pro) c.*7347T>C (n.*7347T>C) c.818T>C (p.Leu273Pro) n.1T>C c.225T>C c.7442T>C (p.Leu2481Pro) c.7247T>C (p.Leu2416Pro) c.7415T>C (p.Leu2472Pro) | ClinVar dbSNP |
| 16 | g.89275118A>T | CA397147830 | ANKRD11 | c.7544T>A (p.Leu2515Gln) c.*7347T>A (n.*7347T>A) c.818T>A (p.Leu273Gln) n.1T>A c.225T>A c.7442T>A (p.Leu2481Gln) c.7247T>A (p.Leu2416Gln) c.7415T>A (p.Leu2472Gln) | |
| 16 | g.89275119G>A | CA497167992 | ANKRD11 | c.7543C>T (p.Leu2515=) c.*7346C>T (n.*7346C>T) c.817C>T (p.Leu273=) c.224C>T c.7441C>T (p.Leu2481=) c.7246C>T (p.Leu2416=) c.7414C>T (p.Leu2472=) | |
| 16 | g.89275119G>C | CA397147831 | ANKRD11 | c.7543C>G (p.Leu2515Val) c.*7346C>G (n.*7346C>G) c.817C>G (p.Leu273Val) c.224C>G c.7441C>G (p.Leu2481Val) c.7246C>G (p.Leu2416Val) c.7414C>G (p.Leu2472Val) | |
| 16 | g.89275119G>T | CA397147832 | ANKRD11 | c.7543C>A (p.Leu2515Met) c.*7346C>A (n.*7346C>A) c.817C>A (p.Leu273Met) c.224C>A c.7441C>A (p.Leu2481Met) c.7246C>A (p.Leu2416Met) c.7414C>A (p.Leu2472Met) | |
| 16 | g.89275120C>A | CA397147833 | ANKRD11 | c.7542G>T (p.Lys2514Asn) c.*7345G>T (n.*7345G>T) c.816G>T (p.Lys272Asn) c.223G>T c.7440G>T (p.Lys2480Asn) c.7245G>T (p.Lys2415Asn) c.7413G>T (p.Lys2471Asn) | gnomAD v4 |
| 16 | g.89275120C>G | CA397147834 | ANKRD11 | c.7542G>C (p.Lys2514Asn) c.*7345G>C (n.*7345G>C) c.816G>C (p.Lys272Asn) c.223G>C c.7440G>C (p.Lys2480Asn) c.7245G>C (p.Lys2415Asn) c.7413G>C (p.Lys2471Asn) | |
| 16 | g.89275120C>T | CA497168000 | ANKRD11 | c.7542G>A (p.Lys2514=) c.*7345G>A (n.*7345G>A) c.816G>A (p.Lys272=) c.223G>A c.7440G>A (p.Lys2480=) c.7245G>A (p.Lys2415=) c.7413G>A (p.Lys2471=) | |
| 16 | g.89275121T>A | CA397147835 | ANKRD11 | c.7541A>T (p.Lys2514Met) c.*7344A>T (n.*7344A>T) c.815A>T (p.Lys272Met) c.222A>T c.7439A>T (p.Lys2480Met) c.7244A>T (p.Lys2415Met) c.7412A>T (p.Lys2471Met) | |
| 16 | g.89275121T>C | CA397147836 | ANKRD11 | c.7541A>G (p.Lys2514Arg) c.*7344A>G (n.*7344A>G) c.815A>G (p.Lys272Arg) c.222A>G c.7439A>G (p.Lys2480Arg) c.7244A>G (p.Lys2415Arg) c.7412A>G (p.Lys2471Arg) | |
| 16 | g.89275121T>G | CA397147837 | ANKRD11 | c.7541A>C (p.Lys2514Thr) c.*7344A>C (n.*7344A>C) c.815A>C (p.Lys272Thr) c.222A>C c.7439A>C (p.Lys2480Thr) c.7244A>C (p.Lys2415Thr) c.7412A>C (p.Lys2471Thr) | |
| 16 | g.89275122T>A | CA397147840 | ANKRD11 | c.7540A>T (p.Lys2514Ter) c.*7343A>T (n.*7343A>T) c.814A>T (p.Lys272Ter) c.221A>T c.7438A>T (p.Lys2480Ter) c.7243A>T (p.Lys2415Ter) c.7411A>T (p.Lys2471Ter) | |
| 16 | g.89275122T>C | CA397147839 | ANKRD11 | c.7540A>G (p.Lys2514Glu) c.*7343A>G (n.*7343A>G) c.814A>G (p.Lys272Glu) c.221A>G c.7438A>G (p.Lys2480Glu) c.7243A>G (p.Lys2415Glu) c.7411A>G (p.Lys2471Glu) | |
| 16 | g.89275122T>G | CA397147838 | ANKRD11 | c.7540A>C (p.Lys2514Gln) c.*7343A>C (n.*7343A>C) c.814A>C (p.Lys272Gln) c.221A>C c.7438A>C (p.Lys2480Gln) c.7243A>C (p.Lys2415Gln) c.7411A>C (p.Lys2471Gln) | dbSNP |
| 16 | g.89275122T= | CA2241598778 | ANKRD11 | c.7540A= (p.Lys2514=) c.*7343A= (n.*7343A=) c.814A= (p.Lys272=) c.221A= c.7438A= (p.Lys2480=) c.7243A= (p.Lys2415=) c.7411A= (p.Lys2471=) | |
| 16 | g.89275123T>A | CA497168015 | ANKRD11 | c.7539A>T (p.Gly2513=) c.*7342A>T (n.*7342A>T) c.813A>T (p.Gly271=) c.220A>T c.7437A>T (p.Gly2479=) c.7242A>T (p.Gly2414=) c.7410A>T (p.Gly2470=) | |
| 16 | g.89275123T>C | CA497168013 | ANKRD11 | c.7539A>G (p.Gly2513=) c.*7342A>G (n.*7342A>G) c.813A>G (p.Gly271=) c.220A>G c.7437A>G (p.Gly2479=) c.7242A>G (p.Gly2414=) c.7410A>G (p.Gly2470=) | |
| 16 | g.89275123T>G | CA497168011 | ANKRD11 | c.7539A>C (p.Gly2513=) c.*7342A>C (n.*7342A>C) c.813A>C (p.Gly271=) c.220A>C c.7437A>C (p.Gly2479=) c.7242A>C (p.Gly2414=) c.7410A>C (p.Gly2470=) | |
| 16 | g.89275124C>A | CA286505928 | ANKRD11 | c.7538G>T (p.Gly2513Val) c.*7341G>T (n.*7341G>T) c.812G>T (p.Gly271Val) c.219G>T c.7436G>T (p.Gly2479Val) c.7241G>T (p.Gly2414Val) c.7409G>T (p.Gly2470Val) | dbSNP |
| 16 | g.89275124C= | CA2241598779 | ANKRD11 | c.7538G= (p.Gly2513=) c.*7341G= (n.*7341G=) c.812G= (p.Gly271=) c.219G= c.7436G= (p.Gly2479=) c.7241G= (p.Gly2414=) c.7409G= (p.Gly2470=) | |
| 16 | g.89275124C>G | CA397147841 | ANKRD11 | c.7538G>C (p.Gly2513Ala) c.*7341G>C (n.*7341G>C) c.812G>C (p.Gly271Ala) c.219G>C c.7436G>C (p.Gly2479Ala) c.7241G>C (p.Gly2414Ala) c.7409G>C (p.Gly2470Ala) |