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.9763108_9769129del | CA915949116 | GRIN2A | c.2357-40_*41del c.1886-40_*247del n.1950-40_3686del c.1886-40_*41del c.2357-4181_*1806del c.1946-40_4025del n.1996-40_3732del c.1946-40_*247del c.2357-40_*247del c.2198-40_*41del c.2099-40_*41del c.2513-40_*41del c.2513-40_*247del | ClinVar |
| 16 | g.9763236_9763238del | CA621175117 | GRIN2A | c.4310_4312del (p.Asn1437del) c.*121_*123del (n.*121_*123del) n.3560_3562del c.3839_3841del (p.Asn1280del) c.*1680_*1682del (n.*1680_*1682del) c.3899_3901del (p.Asn1300del) n.3606_3608del c.4151_4153del (p.Asn1384del) c.4052_4054del (p.Asn1351del) c.4466_4468del (p.Asn1489del) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9763239_9763244del | CA2631674834 | GRIN2A | c.4305_4310del (p.Lys1435_Asn1436del) c.*116_*121del (n.*116_*121del) n.3555_3560del c.3834_3839del (p.Lys1278_Asn1279del) c.*1675_*1680del (n.*1675_*1680del) c.3894_3899del (p.Lys1298_Asn1299del) n.3601_3606del c.4146_4151del (p.Lys1382_Asn1383del) c.4047_4052del (p.Lys1349_Asn1350del) c.4461_4466del (p.Lys1487_Asn1488del) | gnomAD v4 |
| 16 | g.9763237T>A | CA394705262 | GRIN2A | c.4307A>T (p.Asn1436Ile) c.*118A>T (n.*118A>T) n.3557A>T c.3836A>T (p.Asn1279Ile) c.*1677A>T (n.*1677A>T) c.3896A>T (p.Asn1299Ile) n.3603A>T c.4148A>T (p.Asn1383Ile) c.4049A>T (p.Asn1350Ile) c.4463A>T (p.Asn1488Ile) | |
| 16 | g.9763237T>C | CA314998 | GRIN2A | c.4307A>G (p.Asn1436Ser) c.*118A>G (n.*118A>G) n.3557A>G c.3836A>G (p.Asn1279Ser) c.*1677A>G (n.*1677A>G) c.3896A>G (p.Asn1299Ser) n.3603A>G c.4148A>G (p.Asn1383Ser) c.4049A>G (p.Asn1350Ser) c.4463A>G (p.Asn1488Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9763237T>G | CA394705265 | GRIN2A | c.4307A>C (p.Asn1436Thr) c.*118A>C (n.*118A>C) n.3557A>C c.3836A>C (p.Asn1279Thr) c.*1677A>C (n.*1677A>C) c.3896A>C (p.Asn1299Thr) n.3603A>C c.4148A>C (p.Asn1383Thr) c.4049A>C (p.Asn1350Thr) c.4463A>C (p.Asn1488Thr) | |
| 16 | g.9763237T= | CA2206692625 | GRIN2A | c.4307A= (p.Asn1436=) c.*118A= (n.*118A=) n.3557A= c.3836A= (p.Asn1279=) c.*1677A= (n.*1677A=) c.3896A= (p.Asn1299=) n.3603A= c.4148A= (p.Asn1383=) c.4049A= (p.Asn1350=) c.4463A= (p.Asn1488=) | |
| 16 | g.9763238T>A | CA394705268 | GRIN2A | c.4306A>T (p.Asn1436Tyr) c.*117A>T (n.*117A>T) n.3556A>T c.3835A>T (p.Asn1279Tyr) c.*1676A>T (n.*1676A>T) c.3895A>T (p.Asn1299Tyr) n.3602A>T c.4147A>T (p.Asn1383Tyr) c.4048A>T (p.Asn1350Tyr) c.4462A>T (p.Asn1488Tyr) | |
| 16 | g.9763238T>C | CA394705270 | GRIN2A | c.4306A>G (p.Asn1436Asp) c.*117A>G (n.*117A>G) n.3556A>G c.3835A>G (p.Asn1279Asp) c.*1676A>G (n.*1676A>G) c.3895A>G (p.Asn1299Asp) n.3602A>G c.4147A>G (p.Asn1383Asp) c.4048A>G (p.Asn1350Asp) c.4462A>G (p.Asn1488Asp) | |
| 16 | g.9763238T>G | CA394705272 | GRIN2A | c.4306A>C (p.Asn1436His) c.*117A>C (n.*117A>C) n.3556A>C c.3835A>C (p.Asn1279His) c.*1676A>C (n.*1676A>C) c.3895A>C (p.Asn1299His) n.3602A>C c.4147A>C (p.Asn1383His) c.4048A>C (p.Asn1350His) c.4462A>C (p.Asn1488His) | |
| 16 | g.9763239C>A | CA394705275 | GRIN2A | c.4305G>T (p.Lys1435Asn) c.*116G>T (n.*116G>T) n.3555G>T c.3834G>T (p.Lys1278Asn) c.*1675G>T (n.*1675G>T) c.3894G>T (p.Lys1298Asn) n.3601G>T c.4146G>T (p.Lys1382Asn) c.4047G>T (p.Lys1349Asn) c.4461G>T (p.Lys1487Asn) | gnomAD v4 |
| 16 | g.9763239C= | CA2206692626 | GRIN2A | c.4305G= (p.Lys1435=) c.*116G= (n.*116G=) n.3555G= c.3834G= (p.Lys1278=) c.*1675G= (n.*1675G=) c.3894G= (p.Lys1298=) n.3601G= c.4146G= (p.Lys1382=) c.4047G= (p.Lys1349=) c.4461G= (p.Lys1487=) | |
| 16 | g.9763239C>G | CA394705277 | GRIN2A | c.4305G>C (p.Lys1435Asn) c.*116G>C (n.*116G>C) n.3555G>C c.3834G>C (p.Lys1278Asn) c.*1675G>C (n.*1675G>C) c.3894G>C (p.Lys1298Asn) n.3601G>C c.4146G>C (p.Lys1382Asn) c.4047G>C (p.Lys1349Asn) c.4461G>C (p.Lys1487Asn) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9763239C>T | CA493692488 | GRIN2A | c.4305G>A (p.Lys1435=) c.*116G>A (n.*116G>A) n.3555G>A c.3834G>A (p.Lys1278=) c.*1675G>A (n.*1675G>A) c.3894G>A (p.Lys1298=) n.3601G>A c.4146G>A (p.Lys1382=) c.4047G>A (p.Lys1349=) c.4461G>A (p.Lys1487=) | |
| 16 | g.9763240T>A | CA394705279 | GRIN2A | c.4304A>T (p.Lys1435Met) c.*115A>T (n.*115A>T) n.3554A>T c.3833A>T (p.Lys1278Met) c.*1674A>T (n.*1674A>T) c.3893A>T (p.Lys1298Met) n.3600A>T c.4145A>T (p.Lys1382Met) c.4046A>T (p.Lys1349Met) c.4460A>T (p.Lys1487Met) | gnomAD v4 |
| 16 | g.9763240T>C | CA394705281 | GRIN2A | c.4304A>G (p.Lys1435Arg) c.*115A>G (n.*115A>G) n.3554A>G c.3833A>G (p.Lys1278Arg) c.*1674A>G (n.*1674A>G) c.3893A>G (p.Lys1298Arg) n.3600A>G c.4145A>G (p.Lys1382Arg) c.4046A>G (p.Lys1349Arg) c.4460A>G (p.Lys1487Arg) | |
| 16 | g.9763240T>G | CA394705283 | GRIN2A | c.4304A>C (p.Lys1435Thr) c.*115A>C (n.*115A>C) n.3554A>C c.3833A>C (p.Lys1278Thr) c.*1674A>C (n.*1674A>C) c.3893A>C (p.Lys1298Thr) n.3600A>C c.4145A>C (p.Lys1382Thr) c.4046A>C (p.Lys1349Thr) c.4460A>C (p.Lys1487Thr) | |
| 16 | g.9763241T>A | CA394705290 | GRIN2A | c.4303A>T (p.Lys1435Ter) c.*114A>T (n.*114A>T) n.3553A>T c.3832A>T (p.Lys1278Ter) c.*1673A>T (n.*1673A>T) c.3892A>T (p.Lys1298Ter) n.3599A>T c.4144A>T (p.Lys1382Ter) c.4045A>T (p.Lys1349Ter) c.4459A>T (p.Lys1487Ter) | |
| 16 | g.9763241T>C | CA394705286 | GRIN2A | c.4303A>G (p.Lys1435Glu) c.*114A>G (n.*114A>G) n.3553A>G c.3832A>G (p.Lys1278Glu) c.*1673A>G (n.*1673A>G) c.3892A>G (p.Lys1298Glu) n.3599A>G c.4144A>G (p.Lys1382Glu) c.4045A>G (p.Lys1349Glu) c.4459A>G (p.Lys1487Glu) | |
| 16 | g.9763241T>G | CA394705288 | GRIN2A | c.4303A>C (p.Lys1435Gln) c.*114A>C (n.*114A>C) n.3553A>C c.3832A>C (p.Lys1278Gln) c.*1673A>C (n.*1673A>C) c.3892A>C (p.Lys1298Gln) n.3599A>C c.4144A>C (p.Lys1382Gln) c.4045A>C (p.Lys1349Gln) c.4459A>C (p.Lys1487Gln) | |
| 16 | g.9763242A>C | CA394705292 | GRIN2A | c.4302T>G (p.Asn1434Lys) c.*113T>G (n.*113T>G) n.3552T>G c.3831T>G (p.Asn1277Lys) c.*1672T>G (n.*1672T>G) c.3891T>G (p.Asn1297Lys) n.3598T>G c.4143T>G (p.Asn1381Lys) c.4044T>G (p.Asn1348Lys) c.4458T>G (p.Asn1486Lys) | |
| 16 | g.9763242A>G | CA493692494 | GRIN2A | c.4302T>C (p.Asn1434=) c.*113T>C (n.*113T>C) n.3552T>C c.3831T>C (p.Asn1277=) c.*1672T>C (n.*1672T>C) c.3891T>C (p.Asn1297=) n.3598T>C c.4143T>C (p.Asn1381=) c.4044T>C (p.Asn1348=) c.4458T>C (p.Asn1486=) | gnomAD v4 |
| 16 | g.9763242A>T | CA394705294 | GRIN2A | c.4302T>A (p.Asn1434Lys) c.*113T>A (n.*113T>A) n.3552T>A c.3831T>A (p.Asn1277Lys) c.*1672T>A (n.*1672T>A) c.3891T>A (p.Asn1297Lys) n.3598T>A c.4143T>A (p.Asn1381Lys) c.4044T>A (p.Asn1348Lys) c.4458T>A (p.Asn1486Lys) | |
| 16 | g.9763243T>A | CA394705297 | GRIN2A | c.4301A>T (p.Asn1434Ile) c.*112A>T (n.*112A>T) n.3551A>T c.3830A>T (p.Asn1277Ile) c.*1671A>T (n.*1671A>T) c.3890A>T (p.Asn1297Ile) n.3597A>T c.4142A>T (p.Asn1381Ile) c.4043A>T (p.Asn1348Ile) c.4457A>T (p.Asn1486Ile) | |
| 16 | g.9763243T>C | CA394705298 | GRIN2A | c.4301A>G (p.Asn1434Ser) c.*112A>G (n.*112A>G) n.3551A>G c.3830A>G (p.Asn1277Ser) c.*1671A>G (n.*1671A>G) c.3890A>G (p.Asn1297Ser) n.3597A>G c.4142A>G (p.Asn1381Ser) c.4043A>G (p.Asn1348Ser) c.4457A>G (p.Asn1486Ser) | |
| 16 | g.9763243T>G | CA394705300 | GRIN2A | c.4301A>C (p.Asn1434Thr) c.*112A>C (n.*112A>C) n.3551A>C c.3830A>C (p.Asn1277Thr) c.*1671A>C (n.*1671A>C) c.3890A>C (p.Asn1297Thr) n.3597A>C c.4142A>C (p.Asn1381Thr) c.4043A>C (p.Asn1348Thr) c.4457A>C (p.Asn1486Thr) | |
| 16 | g.9763244T>A | CA394705306 | GRIN2A | c.4300A>T (p.Asn1434Tyr) c.*111A>T (n.*111A>T) n.3550A>T c.3829A>T (p.Asn1277Tyr) c.*1670A>T (n.*1670A>T) c.3889A>T (p.Asn1297Tyr) n.3596A>T c.4141A>T (p.Asn1381Tyr) c.4042A>T (p.Asn1348Tyr) c.4456A>T (p.Asn1486Tyr) | |
| 16 | g.9763244T>C | CA394705304 | GRIN2A | c.4300A>G (p.Asn1434Asp) c.*111A>G (n.*111A>G) n.3550A>G c.3829A>G (p.Asn1277Asp) c.*1670A>G (n.*1670A>G) c.3889A>G (p.Asn1297Asp) n.3596A>G c.4141A>G (p.Asn1381Asp) c.4042A>G (p.Asn1348Asp) c.4456A>G (p.Asn1486Asp) | |
| 16 | g.9763244T>G | CA394705302 | GRIN2A | c.4300A>C (p.Asn1434His) c.*111A>C (n.*111A>C) n.3550A>C c.3829A>C (p.Asn1277His) c.*1670A>C (n.*1670A>C) c.3889A>C (p.Asn1297His) n.3596A>C c.4141A>C (p.Asn1381His) c.4042A>C (p.Asn1348His) c.4456A>C (p.Asn1486His) | |
| 16 | g.9763245T>A | CA493692497 | GRIN2A | c.4299A>T (p.Ala1433=) c.*110A>T (n.*110A>T) n.3549A>T c.3828A>T (p.Ala1276=) c.*1669A>T (n.*1669A>T) c.3888A>T (p.Ala1296=) n.3595A>T c.4140A>T (p.Ala1380=) c.4041A>T (p.Ala1347=) c.4455A>T (p.Ala1485=) | |
| 16 | g.9763245T>C | CA493692498 | GRIN2A | c.4299A>G (p.Ala1433=) c.*110A>G (n.*110A>G) n.3549A>G c.3828A>G (p.Ala1276=) c.*1669A>G (n.*1669A>G) c.3888A>G (p.Ala1296=) n.3595A>G c.4140A>G (p.Ala1380=) c.4041A>G (p.Ala1347=) c.4455A>G (p.Ala1485=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9763245T>G | CA493692499 | GRIN2A | c.4299A>C (p.Ala1433=) c.*110A>C (n.*110A>C) n.3549A>C c.3828A>C (p.Ala1276=) c.*1669A>C (n.*1669A>C) c.3888A>C (p.Ala1296=) n.3595A>C c.4140A>C (p.Ala1380=) c.4041A>C (p.Ala1347=) c.4455A>C (p.Ala1485=) | |
| 16 | g.9763245T= | CA2206692627 | GRIN2A | c.4299A= (p.Ala1433=) c.*110A= (n.*110A=) n.3549A= c.3828A= (p.Ala1276=) c.*1669A= (n.*1669A=) c.3888A= (p.Ala1296=) n.3595A= c.4140A= (p.Ala1380=) c.4041A= (p.Ala1347=) c.4455A= (p.Ala1485=) | |
| 16 | g.9763246G>A | CA394705308 | GRIN2A | c.4298C>T (p.Ala1433Val) c.*109C>T (n.*109C>T) n.3548C>T c.3827C>T (p.Ala1276Val) c.*1668C>T (n.*1668C>T) c.3887C>T (p.Ala1296Val) n.3594C>T c.4139C>T (p.Ala1380Val) c.4040C>T (p.Ala1347Val) c.4454C>T (p.Ala1485Val) | COSMIC |
| 16 | g.9763246G>C | CA394705310 | GRIN2A | c.4298C>G (p.Ala1433Gly) c.*109C>G (n.*109C>G) n.3548C>G c.3827C>G (p.Ala1276Gly) c.*1668C>G (n.*1668C>G) c.3887C>G (p.Ala1296Gly) n.3594C>G c.4139C>G (p.Ala1380Gly) c.4040C>G (p.Ala1347Gly) c.4454C>G (p.Ala1485Gly) | |
| 16 | g.9763246G>T | CA394705312 | GRIN2A | c.4298C>A (p.Ala1433Glu) c.*109C>A (n.*109C>A) n.3548C>A c.3827C>A (p.Ala1276Glu) c.*1668C>A (n.*1668C>A) c.3887C>A (p.Ala1296Glu) n.3594C>A c.4139C>A (p.Ala1380Glu) c.4040C>A (p.Ala1347Glu) c.4454C>A (p.Ala1485Glu) | |
| 16 | g.9763247C>A | CA394705314 | GRIN2A | c.4297G>T (p.Ala1433Ser) c.*108G>T (n.*108G>T) n.3547G>T c.3826G>T (p.Ala1276Ser) c.*1667G>T (n.*1667G>T) c.3886G>T (p.Ala1296Ser) n.3593G>T c.4138G>T (p.Ala1380Ser) c.4039G>T (p.Ala1347Ser) c.4453G>T (p.Ala1485Ser) | |
| 16 | g.9763247C>G | CA394705315 | GRIN2A | c.4297G>C (p.Ala1433Pro) c.*108G>C (n.*108G>C) n.3547G>C c.3826G>C (p.Ala1276Pro) c.*1667G>C (n.*1667G>C) c.3886G>C (p.Ala1296Pro) n.3593G>C c.4138G>C (p.Ala1380Pro) c.4039G>C (p.Ala1347Pro) c.4453G>C (p.Ala1485Pro) | |
| 16 | g.9763247C>T | CA394705317 | GRIN2A | c.4297G>A (p.Ala1433Thr) c.*108G>A (n.*108G>A) n.3547G>A c.3826G>A (p.Ala1276Thr) c.*1667G>A (n.*1667G>A) c.3886G>A (p.Ala1296Thr) n.3593G>A c.4138G>A (p.Ala1380Thr) c.4039G>A (p.Ala1347Thr) c.4453G>A (p.Ala1485Thr) | dbSNP gnomAD v4 |
| 16 | g.9763248A>C | CA493692506 | GRIN2A | c.4296T>G (p.Ala1432=) c.*107T>G (n.*107T>G) n.3546T>G c.3825T>G (p.Ala1275=) c.*1666T>G (n.*1666T>G) c.3885T>G (p.Ala1295=) n.3592T>G c.4137T>G (p.Ala1379=) c.4038T>G (p.Ala1346=) c.4452T>G (p.Ala1484=) | gnomAD v4 |
| 16 | g.9763248A>G | CA493692504 | GRIN2A | c.4296T>C (p.Ala1432=) c.*107T>C (n.*107T>C) n.3546T>C c.3825T>C (p.Ala1275=) c.*1666T>C (n.*1666T>C) c.3885T>C (p.Ala1295=) n.3592T>C c.4137T>C (p.Ala1379=) c.4038T>C (p.Ala1346=) c.4452T>C (p.Ala1484=) | gnomAD v4 |
| 16 | g.9763248A>T | CA493692505 | GRIN2A | c.4296T>A (p.Ala1432=) c.*107T>A (n.*107T>A) n.3546T>A c.3825T>A (p.Ala1275=) c.*1666T>A (n.*1666T>A) c.3885T>A (p.Ala1295=) n.3592T>A c.4137T>A (p.Ala1379=) c.4038T>A (p.Ala1346=) c.4452T>A (p.Ala1484=) | |
| 16 | g.9763249G>A | CA394705323 | GRIN2A | c.4295C>T (p.Ala1432Val) c.*106C>T (n.*106C>T) n.3545C>T c.3824C>T (p.Ala1275Val) c.*1665C>T (n.*1665C>T) c.3884C>T (p.Ala1295Val) n.3591C>T c.4136C>T (p.Ala1379Val) c.4037C>T (p.Ala1346Val) c.4451C>T (p.Ala1484Val) | dbSNP |
| 16 | g.9763249G>C | CA277535842 | GRIN2A | c.4295C>G (p.Ala1432Gly) c.*106C>G (n.*106C>G) n.3545C>G c.3824C>G (p.Ala1275Gly) c.*1665C>G (n.*1665C>G) c.3884C>G (p.Ala1295Gly) n.3591C>G c.4136C>G (p.Ala1379Gly) c.4037C>G (p.Ala1346Gly) c.4451C>G (p.Ala1484Gly) | dbSNP |
| 16 | g.9763249G= | CA2206692628 | GRIN2A | c.4295C= (p.Ala1432=) c.*106C= (n.*106C=) n.3545C= c.3824C= (p.Ala1275=) c.*1665C= (n.*1665C=) c.3884C= (p.Ala1295=) n.3591C= c.4136C= (p.Ala1379=) c.4037C= (p.Ala1346=) c.4451C= (p.Ala1484=) | |
| 16 | g.9763249G>T | CA394705322 | GRIN2A | c.4295C>A (p.Ala1432Asp) c.*106C>A (n.*106C>A) n.3545C>A c.3824C>A (p.Ala1275Asp) c.*1665C>A (n.*1665C>A) c.3884C>A (p.Ala1295Asp) n.3591C>A c.4136C>A (p.Ala1379Asp) c.4037C>A (p.Ala1346Asp) c.4451C>A (p.Ala1484Asp) | |
| 16 | g.9763250C>A | CA394705325 | GRIN2A | c.4294G>T (p.Ala1432Ser) c.*105G>T (n.*105G>T) n.3544G>T c.3823G>T (p.Ala1275Ser) c.*1664G>T (n.*1664G>T) c.3883G>T (p.Ala1295Ser) n.3590G>T c.4135G>T (p.Ala1379Ser) c.4036G>T (p.Ala1346Ser) c.4450G>T (p.Ala1484Ser) | |
| 16 | g.9763250C= | CA2206692629 | GRIN2A | c.4294G= (p.Ala1432=) c.*105G= (n.*105G=) n.3544G= c.3823G= (p.Ala1275=) c.*1664G= (n.*1664G=) c.3883G= (p.Ala1295=) n.3590G= c.4135G= (p.Ala1379=) c.4036G= (p.Ala1346=) c.4450G= (p.Ala1484=) | |
| 16 | g.9763250C>G | CA394705327 | GRIN2A | c.4294G>C (p.Ala1432Pro) c.*105G>C (n.*105G>C) n.3544G>C c.3823G>C (p.Ala1275Pro) c.*1664G>C (n.*1664G>C) c.3883G>C (p.Ala1295Pro) n.3590G>C c.4135G>C (p.Ala1379Pro) c.4036G>C (p.Ala1346Pro) c.4450G>C (p.Ala1484Pro) | |
| 16 | g.9763250C>T | CA394705328 | GRIN2A | c.4294G>A (p.Ala1432Thr) c.*105G>A (n.*105G>A) n.3544G>A c.3823G>A (p.Ala1275Thr) c.*1664G>A (n.*1664G>A) c.3883G>A (p.Ala1295Thr) n.3590G>A c.4135G>A (p.Ala1379Thr) c.4036G>A (p.Ala1346Thr) c.4450G>A (p.Ala1484Thr) | dbSNP |