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 |
|---|---|---|---|---|---|
| 22 | g.50722135G>A | CA10326242 | SHANK3 | c.3903G>A (p.Leu1301=) n.4487G>A c.2955G>A (p.Leu985=) c.2445G>A (p.Leu815=) c.*2901G>A (n.*2901G>A) c.4299G>A (p.Leu1433=) c.4281G>A (p.Leu1427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722135G>C | CA515264536 | SHANK3 | c.3903G>C (p.Leu1301=) n.4487G>C c.2955G>C (p.Leu985=) c.2445G>C (p.Leu815=) c.*2901G>C (n.*2901G>C) c.4299G>C (p.Leu1433=) c.4281G>C (p.Leu1427=) | |
| 22 | g.50722135G= | CA2411008638 | SHANK3 | c.3903G= (p.Leu1301=) n.4487G= c.2955G= (p.Leu985=) c.2445G= (p.Leu815=) c.*2901G= (n.*2901G=) c.4299G= (p.Leu1433=) c.4281G= (p.Leu1427=) | |
| 22 | g.50722135G>T | CA515264535 | SHANK3 | c.3903G>T (p.Leu1301=) n.4487G>T c.2955G>T (p.Leu985=) c.2445G>T (p.Leu815=) c.*2901G>T (n.*2901G>T) c.4299G>T (p.Leu1433=) c.4281G>T (p.Leu1427=) | |
| 22 | g.50722136A>C | CA515264537 | SHANK3 | c.3904A>C (p.Lys1302Gln) n.4488A>C c.2956A>C (p.Lys986Gln) c.2446A>C (p.Lys816Gln) c.*2902A>C (n.*2902A>C) c.4300A>C (p.Lys1434Gln) c.4282A>C (p.Lys1428Gln) | |
| 22 | g.50722136A>G | CA515264539 | SHANK3 | c.3904A>G (p.Lys1302Glu) n.4488A>G c.2956A>G (p.Lys986Glu) c.2446A>G (p.Lys816Glu) c.*2902A>G (n.*2902A>G) c.4300A>G (p.Lys1434Glu) c.4282A>G (p.Lys1428Glu) | |
| 22 | g.50722136A>T | CA515264541 | SHANK3 | c.3904A>T (p.Lys1302Ter) n.4488A>T c.2956A>T (p.Lys986Ter) c.2446A>T (p.Lys816Ter) c.*2902A>T (n.*2902A>T) c.4300A>T (p.Lys1434Ter) c.4282A>T (p.Lys1428Ter) | |
| 22 | g.50722137A>C | CA515264543 | SHANK3 | c.3905A>C (p.Lys1302Thr) n.4489A>C c.2957A>C (p.Lys986Thr) c.2447A>C (p.Lys816Thr) c.*2903A>C (n.*2903A>C) c.4301A>C (p.Lys1434Thr) c.4283A>C (p.Lys1428Thr) | |
| 22 | g.50722137A>G | CA515264544 | SHANK3 | c.3905A>G (p.Lys1302Arg) n.4489A>G c.2957A>G (p.Lys986Arg) c.2447A>G (p.Lys816Arg) c.*2903A>G (n.*2903A>G) c.4301A>G (p.Lys1434Arg) c.4283A>G (p.Lys1428Arg) | |
| 22 | g.50722137A>T | CA515264545 | SHANK3 | c.3905A>T (p.Lys1302Met) n.4489A>T c.2957A>T (p.Lys986Met) c.2447A>T (p.Lys816Met) c.*2903A>T (n.*2903A>T) c.4301A>T (p.Lys1434Met) c.4283A>T (p.Lys1428Met) | |
| 22 | g.50722138G>A | CA515264546 | SHANK3 | c.3906G>A (p.Lys1302=) n.4490G>A c.2958G>A (p.Lys986=) c.2448G>A (p.Lys816=) c.*2904G>A (n.*2904G>A) c.4302G>A (p.Lys1434=) c.4284G>A (p.Lys1428=) | |
| 22 | g.50722138G>C | CA515264548 | SHANK3 | c.3906G>C (p.Lys1302Asn) n.4490G>C c.2958G>C (p.Lys986Asn) c.2448G>C (p.Lys816Asn) c.*2904G>C (n.*2904G>C) c.4302G>C (p.Lys1434Asn) c.4284G>C (p.Lys1428Asn) | |
| 22 | g.50722138G>T | CA515264547 | SHANK3 | c.3906G>T (p.Lys1302Asn) n.4490G>T c.2958G>T (p.Lys986Asn) c.2448G>T (p.Lys816Asn) c.*2904G>T (n.*2904G>T) c.4302G>T (p.Lys1434Asn) c.4284G>T (p.Lys1428Asn) | |
| 22 | g.50722139C>A | CA515264550 | SHANK3 | c.3907C>A (p.Gln1303Lys) n.4491C>A c.2959C>A (p.Gln987Lys) c.2449C>A (p.Gln817Lys) c.*2905C>A (n.*2905C>A) c.4303C>A (p.Gln1435Lys) c.4285C>A (p.Gln1429Lys) | |
| 22 | g.50722139C>G | CA515264551 | SHANK3 | c.3907C>G (p.Gln1303Glu) n.4491C>G c.2959C>G (p.Gln987Glu) c.2449C>G (p.Gln817Glu) c.*2905C>G (n.*2905C>G) c.4303C>G (p.Gln1435Glu) c.4285C>G (p.Gln1429Glu) | |
| 22 | g.50722139C>T | CA515264552 | SHANK3 | c.3907C>T (p.Gln1303Ter) n.4491C>T c.2959C>T (p.Gln987Ter) c.2449C>T (p.Gln817Ter) c.*2905C>T (n.*2905C>T) c.4303C>T (p.Gln1435Ter) c.4285C>T (p.Gln1429Ter) | |
| 22 | g.50722140A>C | CA515264553 | SHANK3 | c.3908A>C (p.Gln1303Pro) n.4492A>C c.2960A>C (p.Gln987Pro) c.2450A>C (p.Gln817Pro) c.*2906A>C (n.*2906A>C) c.4304A>C (p.Gln1435Pro) c.4286A>C (p.Gln1429Pro) | |
| 22 | g.50722140A>G | CA515264554 | SHANK3 | c.3908A>G (p.Gln1303Arg) n.4492A>G c.2960A>G (p.Gln987Arg) c.2450A>G (p.Gln817Arg) c.*2906A>G (n.*2906A>G) c.4304A>G (p.Gln1435Arg) c.4286A>G (p.Gln1429Arg) | |
| 22 | g.50722140A>T | CA515264556 | SHANK3 | c.3908A>T (p.Gln1303Leu) n.4492A>T c.2960A>T (p.Gln987Leu) c.2450A>T (p.Gln817Leu) c.*2906A>T (n.*2906A>T) c.4304A>T (p.Gln1435Leu) c.4286A>T (p.Gln1429Leu) | |
| 22 | g.50722141G>A | CA515264557 | SHANK3 | c.3909G>A (p.Gln1303=) n.4493G>A c.2961G>A (p.Gln987=) c.2451G>A (p.Gln817=) c.*2907G>A (n.*2907G>A) c.4305G>A (p.Gln1435=) c.4287G>A (p.Gln1429=) | gnomAD v4 |
| 22 | g.50722141G>C | CA515264558 | SHANK3 | c.3909G>C (p.Gln1303His) n.4493G>C c.2961G>C (p.Gln987His) c.2451G>C (p.Gln817His) c.*2907G>C (n.*2907G>C) c.4305G>C (p.Gln1435His) c.4287G>C (p.Gln1429His) | |
| 22 | g.50722141G>T | CA515264559 | SHANK3 | c.3909G>T (p.Gln1303His) n.4493G>T c.2961G>T (p.Gln987His) c.2451G>T (p.Gln817His) c.*2907G>T (n.*2907G>T) c.4305G>T (p.Gln1435His) c.4287G>T (p.Gln1429His) | |
| 22 | g.50722142T>A | CA515264560 | SHANK3 | c.3910T>A (p.Ser1304Thr) n.4494T>A c.2962T>A (p.Ser988Thr) c.2452T>A (p.Ser818Thr) c.*2908T>A (n.*2908T>A) c.4306T>A (p.Ser1436Thr) c.4288T>A (p.Ser1430Thr) | |
| 22 | g.50722142T>C | CA515264561 | SHANK3 | c.3910T>C (p.Ser1304Pro) n.4494T>C c.2962T>C (p.Ser988Pro) c.2452T>C (p.Ser818Pro) c.*2908T>C (n.*2908T>C) c.4306T>C (p.Ser1436Pro) c.4288T>C (p.Ser1430Pro) | gnomAD v4 |
| 22 | g.50722142T>G | CA515264562 | SHANK3 | c.3910T>G (p.Ser1304Ala) n.4494T>G c.2962T>G (p.Ser988Ala) c.2452T>G (p.Ser818Ala) c.*2908T>G (n.*2908T>G) c.4306T>G (p.Ser1436Ala) c.4288T>G (p.Ser1430Ala) | |
| 22 | g.50722143C>A | CA515264563 | SHANK3 | c.3911C>A (p.Ser1304Tyr) n.4495C>A c.2963C>A (p.Ser988Tyr) c.2453C>A (p.Ser818Tyr) c.*2909C>A (n.*2909C>A) c.4307C>A (p.Ser1436Tyr) c.4289C>A (p.Ser1430Tyr) | gnomAD v4 |
| 22 | g.50722143C= | CA2411008639 | SHANK3 | c.3911C= (p.Ser1304=) n.4495C= c.2963C= (p.Ser988=) c.2453C= (p.Ser818=) c.*2909C= (n.*2909C=) c.4307C= (p.Ser1436=) c.4289C= (p.Ser1430=) | |
| 22 | g.50722143C>G | CA515264565 | SHANK3 | c.3911C>G (p.Ser1304Cys) n.4495C>G c.2963C>G (p.Ser988Cys) c.2453C>G (p.Ser818Cys) c.*2909C>G (n.*2909C>G) c.4307C>G (p.Ser1436Cys) c.4289C>G (p.Ser1430Cys) | |
| 22 | g.50722143C>T | CA325580068 | SHANK3 | c.3911C>T (p.Ser1304Phe) n.4495C>T c.2963C>T (p.Ser988Phe) c.2453C>T (p.Ser818Phe) c.*2909C>T (n.*2909C>T) c.4307C>T (p.Ser1436Phe) c.4289C>T (p.Ser1430Phe) | dbSNP gnomAD v4 |
| 22 | g.50722144C>A | CA515264567 | SHANK3 | c.3912C>A (p.Ser1304=) n.4496C>A c.2964C>A (p.Ser988=) c.2454C>A (p.Ser818=) c.*2910C>A (n.*2910C>A) c.4308C>A (p.Ser1436=) c.4290C>A (p.Ser1430=) | |
| 22 | g.50722144C= | CA2411008640 | SHANK3 | c.3912C= (p.Ser1304=) n.4496C= c.2964C= (p.Ser988=) c.2454C= (p.Ser818=) c.*2910C= (n.*2910C=) c.4308C= (p.Ser1436=) c.4290C= (p.Ser1430=) | |
| 22 | g.50722144C>G | CA515264569 | SHANK3 | c.3912C>G (p.Ser1304=) n.4496C>G c.2964C>G (p.Ser988=) c.2454C>G (p.Ser818=) c.*2910C>G (n.*2910C>G) c.4308C>G (p.Ser1436=) c.4290C>G (p.Ser1430=) | dbSNP |
| 22 | g.50722144C>T | CA515264570 | SHANK3 | c.3912C>T (p.Ser1304=) n.4496C>T c.2964C>T (p.Ser988=) c.2454C>T (p.Ser818=) c.*2910C>T (n.*2910C>T) c.4308C>T (p.Ser1436=) c.4290C>T (p.Ser1430=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722145T>A | CA515264571 | SHANK3 | c.3913T>A (p.Ser1305Thr) n.4497T>A c.2965T>A (p.Ser989Thr) c.2455T>A (p.Ser819Thr) c.*2911T>A (n.*2911T>A) c.4309T>A (p.Ser1437Thr) c.4291T>A (p.Ser1431Thr) | |
| 22 | g.50722145T>C | CA515264572 | SHANK3 | c.3913T>C (p.Ser1305Pro) n.4497T>C c.2965T>C (p.Ser989Pro) c.2455T>C (p.Ser819Pro) c.*2911T>C (n.*2911T>C) c.4309T>C (p.Ser1437Pro) c.4291T>C (p.Ser1431Pro) | |
| 22 | g.50722145T>G | CA515264573 | SHANK3 | c.3913T>G (p.Ser1305Ala) n.4497T>G c.2965T>G (p.Ser989Ala) c.2455T>G (p.Ser819Ala) c.*2911T>G (n.*2911T>G) c.4309T>G (p.Ser1437Ala) c.4291T>G (p.Ser1431Ala) | |
| 22 | g.50722146C>A | CA515264575 | SHANK3 | c.3914C>A (p.Ser1305Ter) n.4498C>A c.2966C>A (p.Ser989Ter) c.2456C>A (p.Ser819Ter) c.*2912C>A (n.*2912C>A) c.4310C>A (p.Ser1437Ter) c.4292C>A (p.Ser1431Ter) | |
| 22 | g.50722146C= | CA2411008641 | SHANK3 | c.3914C= (p.Ser1305=) n.4498C= c.2966C= (p.Ser989=) c.2456C= (p.Ser819=) c.*2912C= (n.*2912C=) c.4310C= (p.Ser1437=) c.4292C= (p.Ser1431=) | |
| 22 | g.50722146C>G | CA515264576 | SHANK3 | c.3914C>G (p.Ser1305Trp) n.4498C>G c.2966C>G (p.Ser989Trp) c.2456C>G (p.Ser819Trp) c.*2912C>G (n.*2912C>G) c.4310C>G (p.Ser1437Trp) c.4292C>G (p.Ser1431Trp) | gnomAD v4 |
| 22 | g.50722146C>T | CA10326243 | SHANK3 | c.3914C>T (p.Ser1305Leu) n.4498C>T c.2966C>T (p.Ser989Leu) c.2456C>T (p.Ser819Leu) c.*2912C>T (n.*2912C>T) c.4310C>T (p.Ser1437Leu) c.4292C>T (p.Ser1431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722147G>A | CA10326244 | SHANK3 | c.3915G>A (p.Ser1305=) n.4499G>A c.2967G>A (p.Ser989=) c.2457G>A (p.Ser819=) c.*2913G>A (n.*2913G>A) c.4311G>A (p.Ser1437=) c.4293G>A (p.Ser1431=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722147G>C | CA515264578 | SHANK3 | c.3915G>C (p.Ser1305=) n.4499G>C c.2967G>C (p.Ser989=) c.2457G>C (p.Ser819=) c.*2913G>C (n.*2913G>C) c.4311G>C (p.Ser1437=) c.4293G>C (p.Ser1431=) | gnomAD v4 |
| 22 | g.50722147G= | CA2411008642 | SHANK3 | c.3915G= (p.Ser1305=) n.4499G= c.2967G= (p.Ser989=) c.2457G= (p.Ser819=) c.*2913G= (n.*2913G=) c.4311G= (p.Ser1437=) c.4293G= (p.Ser1431=) | |
| 22 | g.50722147G>T | CA515264579 | SHANK3 | c.3915G>T (p.Ser1305=) n.4499G>T c.2967G>T (p.Ser989=) c.2457G>T (p.Ser819=) c.*2913G>T (n.*2913G>T) c.4311G>T (p.Ser1437=) c.4293G>T (p.Ser1431=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722148G>A | CA515264583 | SHANK3 | c.3916G>A (p.Asp1306Asn) n.4500G>A c.2968G>A (p.Asp990Asn) c.2458G>A (p.Asp820Asn) c.*2914G>A (n.*2914G>A) c.4312G>A (p.Asp1438Asn) c.4294G>A (p.Asp1432Asn) | |
| 22 | g.50722148G>C | CA515264581 | SHANK3 | c.3916G>C (p.Asp1306His) n.4500G>C c.2968G>C (p.Asp990His) c.2458G>C (p.Asp820His) c.*2914G>C (n.*2914G>C) c.4312G>C (p.Asp1438His) c.4294G>C (p.Asp1432His) | |
| 22 | g.50722148G>T | CA515264582 | SHANK3 | c.3916G>T (p.Asp1306Tyr) n.4500G>T c.2968G>T (p.Asp990Tyr) c.2458G>T (p.Asp820Tyr) c.*2914G>T (n.*2914G>T) c.4312G>T (p.Asp1438Tyr) c.4294G>T (p.Asp1432Tyr) | |
| 22 | g.50722149A>C | CA515264584 | SHANK3 | c.3917A>C (p.Asp1306Ala) n.4501A>C c.2969A>C (p.Asp990Ala) c.2459A>C (p.Asp820Ala) c.*2915A>C (n.*2915A>C) c.4313A>C (p.Asp1438Ala) c.4295A>C (p.Asp1432Ala) | |
| 22 | g.50722149A>G | CA515264585 | SHANK3 | c.3917A>G (p.Asp1306Gly) n.4501A>G c.2969A>G (p.Asp990Gly) c.2459A>G (p.Asp820Gly) c.*2915A>G (n.*2915A>G) c.4313A>G (p.Asp1438Gly) c.4295A>G (p.Asp1432Gly) | |
| 22 | g.50722149A>T | CA515264586 | SHANK3 | c.3917A>T (p.Asp1306Val) n.4501A>T c.2969A>T (p.Asp990Val) c.2459A>T (p.Asp820Val) c.*2915A>T (n.*2915A>T) c.4313A>T (p.Asp1438Val) c.4295A>T (p.Asp1432Val) |