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 |
|---|---|---|---|---|---|
| X | g.32438269_32438281del | CA2695232813 | DMD | c.4033_4045del (p.Glu1345LeufsTer11) c.4021_4033del (p.Glu1341LeufsTer11) c.94-73080_94-73068del (n.94-73080_94-73068del) c.94-73569_94-73557del (n.94-73569_94-73557del) n.336-221216_336-221204del c.4009_4021del (p.Glu1337LeufsTer11) c.3664_3676del (p.Glu1222LeufsTer11) c.3904_3916del (p.Glu1302LeufsTer11) | |
| X | g.32438272A= | CA2422803714 | DMD | c.4040T= (p.Phe1347=) c.4028T= (p.Phe1343=) c.94-73073T= (n.94-73073T=) c.94-73562T= (n.94-73562T=) n.336-221209T= c.4016T= (p.Phe1339=) c.3671T= (p.Phe1224=) c.3911T= (p.Phe1304=) | |
| X | g.32438272A>C | CA412669266 | DMD | c.4040T>G (p.Phe1347Cys) c.4028T>G (p.Phe1343Cys) c.94-73073T>G (n.94-73073T>G) c.94-73562T>G (n.94-73562T>G) n.336-221209T>G c.4016T>G (p.Phe1339Cys) c.3671T>G (p.Phe1224Cys) c.3911T>G (p.Phe1304Cys) | |
| X | g.32438272A>G | CA412669267 | DMD | c.4040T>C (p.Phe1347Ser) c.4028T>C (p.Phe1343Ser) c.94-73073T>C (n.94-73073T>C) c.94-73562T>C (n.94-73562T>C) n.336-221209T>C c.4016T>C (p.Phe1339Ser) c.3671T>C (p.Phe1224Ser) c.3911T>C (p.Phe1304Ser) | |
| X | g.32438272A>T | CA412669268 | DMD | c.4040T>A (p.Phe1347Tyr) c.4028T>A (p.Phe1343Tyr) c.94-73073T>A (n.94-73073T>A) c.94-73562T>A (n.94-73562T>A) n.336-221209T>A c.4016T>A (p.Phe1339Tyr) c.3671T>A (p.Phe1224Tyr) c.3911T>A (p.Phe1304Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32438273A>C | CA412669269 | DMD | c.4039T>G (p.Phe1347Val) c.4027T>G (p.Phe1343Val) c.94-73074T>G (n.94-73074T>G) c.94-73563T>G (n.94-73563T>G) n.336-221210T>G c.4015T>G (p.Phe1339Val) c.3670T>G (p.Phe1224Val) c.3910T>G (p.Phe1304Val) | ClinVar gnomAD v4 |
| X | g.32438273A>G | CA412669270 | DMD | c.4039T>C (p.Phe1347Leu) c.4027T>C (p.Phe1343Leu) c.94-73074T>C (n.94-73074T>C) c.94-73563T>C (n.94-73563T>C) n.336-221210T>C c.4015T>C (p.Phe1339Leu) c.3670T>C (p.Phe1224Leu) c.3910T>C (p.Phe1304Leu) | ClinVar |
| X | g.32438273A>T | CA412669271 | DMD | c.4039T>A (p.Phe1347Ile) c.4027T>A (p.Phe1343Ile) c.94-73074T>A (n.94-73074T>A) c.94-73563T>A (n.94-73563T>A) n.336-221210T>A c.4015T>A (p.Phe1339Ile) c.3670T>A (p.Phe1224Ile) c.3910T>A (p.Phe1304Ile) | |
| X | g.32438274T>A | CA515721784 | DMD | c.4038A>T (p.Thr1346=) c.4026A>T (p.Thr1342=) c.94-73075A>T (n.94-73075A>T) c.94-73564A>T (n.94-73564A>T) n.336-221211A>T c.4014A>T (p.Thr1338=) c.3669A>T (p.Thr1223=) c.3909A>T (p.Thr1303=) | |
| X | g.32438274T>C | CA515721786 | DMD | c.4038A>G (p.Thr1346=) c.4026A>G (p.Thr1342=) c.94-73075A>G (n.94-73075A>G) c.94-73564A>G (n.94-73564A>G) n.336-221211A>G c.4014A>G (p.Thr1338=) c.3669A>G (p.Thr1223=) c.3909A>G (p.Thr1303=) | ClinVar |
| X | g.32438274T>G | CA515721788 | DMD | c.4038A>C (p.Thr1346=) c.4026A>C (p.Thr1342=) c.94-73075A>C (n.94-73075A>C) c.94-73564A>C (n.94-73564A>C) n.336-221211A>C c.4014A>C (p.Thr1338=) c.3669A>C (p.Thr1223=) c.3909A>C (p.Thr1303=) | |
| X | g.32438275G>A | CA10379129 | DMD | c.4037C>T (p.Thr1346Ile) c.4025C>T (p.Thr1342Ile) c.94-73076C>T (n.94-73076C>T) c.94-73565C>T (n.94-73565C>T) n.336-221212C>T c.4013C>T (p.Thr1338Ile) c.3668C>T (p.Thr1223Ile) c.3908C>T (p.Thr1303Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32438275G>C | CA412669272 | DMD | c.4037C>G (p.Thr1346Arg) c.4025C>G (p.Thr1342Arg) c.94-73076C>G (n.94-73076C>G) c.94-73565C>G (n.94-73565C>G) n.336-221212C>G c.4013C>G (p.Thr1338Arg) c.3668C>G (p.Thr1223Arg) c.3908C>G (p.Thr1303Arg) | |
| X | g.32438275G= | CA2422803715 | DMD | c.4037C= (p.Thr1346=) c.4025C= (p.Thr1342=) c.94-73076C= (n.94-73076C=) c.94-73565C= (n.94-73565C=) n.336-221212C= c.4013C= (p.Thr1338=) c.3668C= (p.Thr1223=) c.3908C= (p.Thr1303=) | |
| X | g.32438275G>T | CA10379128 | DMD | c.4037C>A (p.Thr1346Lys) c.4025C>A (p.Thr1342Lys) c.94-73076C>A (n.94-73076C>A) c.94-73565C>A (n.94-73565C>A) n.336-221212C>A c.4013C>A (p.Thr1338Lys) c.3668C>A (p.Thr1223Lys) c.3908C>A (p.Thr1303Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32438276T>A | CA412669273 | DMD | c.4036A>T (p.Thr1346Ser) c.4024A>T (p.Thr1342Ser) c.94-73077A>T (n.94-73077A>T) c.94-73566A>T (n.94-73566A>T) n.336-221213A>T c.4012A>T (p.Thr1338Ser) c.3667A>T (p.Thr1223Ser) c.3907A>T (p.Thr1303Ser) | |
| X | g.32438276T>C | CA412669274 | DMD | c.4036A>G (p.Thr1346Ala) c.4024A>G (p.Thr1342Ala) c.94-73077A>G (n.94-73077A>G) c.94-73566A>G (n.94-73566A>G) n.336-221213A>G c.4012A>G (p.Thr1338Ala) c.3667A>G (p.Thr1223Ala) c.3907A>G (p.Thr1303Ala) | gnomAD v4 |
| X | g.32438276T>G | CA412669275 | DMD | c.4036A>C (p.Thr1346Pro) c.4024A>C (p.Thr1342Pro) c.94-73077A>C (n.94-73077A>C) c.94-73566A>C (n.94-73566A>C) n.336-221213A>C c.4012A>C (p.Thr1338Pro) c.3667A>C (p.Thr1223Pro) c.3907A>C (p.Thr1303Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32438276T= | CA2422803716 | DMD | c.4036A= (p.Thr1346=) c.4024A= (p.Thr1342=) c.94-73077A= (n.94-73077A=) c.94-73566A= (n.94-73566A=) n.336-221213A= c.4012A= (p.Thr1338=) c.3667A= (p.Thr1223=) c.3907A= (p.Thr1303=) | |
| X | g.32438277C>A | CA412669276 | DMD | c.4035G>T (p.Glu1345Asp) c.4023G>T (p.Glu1341Asp) c.94-73078G>T (n.94-73078G>T) c.94-73567G>T (n.94-73567G>T) n.336-221214G>T c.4011G>T (p.Glu1337Asp) c.3666G>T (p.Glu1222Asp) c.3906G>T (p.Glu1302Asp) | |
| X | g.32438277C>G | CA412669277 | DMD | c.4035G>C (p.Glu1345Asp) c.4023G>C (p.Glu1341Asp) c.94-73078G>C (n.94-73078G>C) c.94-73567G>C (n.94-73567G>C) n.336-221214G>C c.4011G>C (p.Glu1337Asp) c.3666G>C (p.Glu1222Asp) c.3906G>C (p.Glu1302Asp) | |
| X | g.32438277C>T | CA515721799 | DMD | c.4035G>A (p.Glu1345=) c.4023G>A (p.Glu1341=) c.94-73078G>A (n.94-73078G>A) c.94-73567G>A (n.94-73567G>A) n.336-221214G>A c.4011G>A (p.Glu1337=) c.3666G>A (p.Glu1222=) c.3906G>A (p.Glu1302=) | |
| X | g.32438278T>A | CA412669278 | DMD | c.4034A>T (p.Glu1345Val) c.4022A>T (p.Glu1341Val) c.94-73079A>T (n.94-73079A>T) c.94-73568A>T (n.94-73568A>T) n.336-221215A>T c.4010A>T (p.Glu1337Val) c.3665A>T (p.Glu1222Val) c.3905A>T (p.Glu1302Val) | |
| X | g.32438278T>C | CA412669280 | DMD | c.4034A>G (p.Glu1345Gly) c.4022A>G (p.Glu1341Gly) c.94-73079A>G (n.94-73079A>G) c.94-73568A>G (n.94-73568A>G) n.336-221215A>G c.4010A>G (p.Glu1337Gly) c.3665A>G (p.Glu1222Gly) c.3905A>G (p.Glu1302Gly) | |
| X | g.32438278T>G | CA412669279 | DMD | c.4034A>C (p.Glu1345Ala) c.4022A>C (p.Glu1341Ala) c.94-73079A>C (n.94-73079A>C) c.94-73568A>C (n.94-73568A>C) n.336-221215A>C c.4010A>C (p.Glu1337Ala) c.3665A>C (p.Glu1222Ala) c.3905A>C (p.Glu1302Ala) | |
| X | g.32438279C>A | CA412669281 | DMD | c.4033G>T (p.Glu1345Ter) c.4021G>T (p.Glu1341Ter) c.94-73080G>T (n.94-73080G>T) c.94-73569G>T (n.94-73569G>T) n.336-221216G>T c.4009G>T (p.Glu1337Ter) c.3664G>T (p.Glu1222Ter) c.3904G>T (p.Glu1302Ter) | |
| X | g.32438279C>G | CA412669282 | DMD | c.4033G>C (p.Glu1345Gln) c.4021G>C (p.Glu1341Gln) c.94-73080G>C (n.94-73080G>C) c.94-73569G>C (n.94-73569G>C) n.336-221216G>C c.4009G>C (p.Glu1337Gln) c.3664G>C (p.Glu1222Gln) c.3904G>C (p.Glu1302Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.32438279C>T | CA412669283 | DMD | c.4033G>A (p.Glu1345Lys) c.4021G>A (p.Glu1341Lys) c.94-73080G>A (n.94-73080G>A) c.94-73569G>A (n.94-73569G>A) n.336-221216G>A c.4009G>A (p.Glu1337Lys) c.3664G>A (p.Glu1222Lys) c.3904G>A (p.Glu1302Lys) | |
| X | g.32438279dup | CA2573158805 | DMD | c.4033dup (p.Glu1345GlyfsTer4) c.4021dup (p.Glu1341GlyfsTer4) c.94-73080dup (n.94-73080dup) c.94-73569dup (n.94-73569dup) n.336-221216dup c.4009dup (p.Glu1337GlyfsTer4) c.3664dup (p.Glu1222GlyfsTer4) c.3904dup (p.Glu1302GlyfsTer4) | ClinVar dbSNP |
| X | g.32438280A= | CA2422803717 | DMD | c.4032T= (p.Leu1344=) c.4020T= (p.Leu1340=) c.94-73081T= (n.94-73081T=) c.94-73570T= (n.94-73570T=) n.336-221217T= c.4008T= (p.Leu1336=) c.3663T= (p.Leu1221=) c.3903T= (p.Leu1301=) | |
| X | g.32438280A>C | CA515721806 | DMD | c.4032T>G (p.Leu1344=) c.4020T>G (p.Leu1340=) c.94-73081T>G (n.94-73081T>G) c.94-73570T>G (n.94-73570T>G) n.336-221217T>G c.4008T>G (p.Leu1336=) c.3663T>G (p.Leu1221=) c.3903T>G (p.Leu1301=) | gnomAD v4 |
| X | g.32438280A>G | CA515721808 | DMD | c.4032T>C (p.Leu1344=) c.4020T>C (p.Leu1340=) c.94-73081T>C (n.94-73081T>C) c.94-73570T>C (n.94-73570T>C) n.336-221217T>C c.4008T>C (p.Leu1336=) c.3663T>C (p.Leu1221=) c.3903T>C (p.Leu1301=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32438280A>T | CA515721809 | DMD | c.4032T>A (p.Leu1344=) c.4020T>A (p.Leu1340=) c.94-73081T>A (n.94-73081T>A) c.94-73570T>A (n.94-73570T>A) n.336-221217T>A c.4008T>A (p.Leu1336=) c.3663T>A (p.Leu1221=) c.3903T>A (p.Leu1301=) | |
| X | g.32438281A>C | CA412669284 | DMD | c.4031T>G (p.Leu1344Arg) c.4019T>G (p.Leu1340Arg) c.94-73082T>G (n.94-73082T>G) c.94-73571T>G (n.94-73571T>G) n.336-221218T>G c.4007T>G (p.Leu1336Arg) c.3662T>G (p.Leu1221Arg) c.3902T>G (p.Leu1301Arg) | |
| X | g.32438281A>G | CA412669285 | DMD | c.4031T>C (p.Leu1344Pro) c.4019T>C (p.Leu1340Pro) c.94-73082T>C (n.94-73082T>C) c.94-73571T>C (n.94-73571T>C) n.336-221218T>C c.4007T>C (p.Leu1336Pro) c.3662T>C (p.Leu1221Pro) c.3902T>C (p.Leu1301Pro) | |
| X | g.32438281A>T | CA412669286 | DMD | c.4031T>A (p.Leu1344His) c.4019T>A (p.Leu1340His) c.94-73082T>A (n.94-73082T>A) c.94-73571T>A (n.94-73571T>A) n.336-221218T>A c.4007T>A (p.Leu1336His) c.3662T>A (p.Leu1221His) c.3902T>A (p.Leu1301His) | |
| X | g.32438282G>A | CA10379130 | DMD | c.4030C>T (p.Leu1344Phe) c.4018C>T (p.Leu1340Phe) c.94-73083C>T (n.94-73083C>T) c.94-73572C>T (n.94-73572C>T) n.336-221219C>T c.4006C>T (p.Leu1336Phe) c.3661C>T (p.Leu1221Phe) c.3901C>T (p.Leu1301Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32438282G>C | CA412669287 | DMD | c.4030C>G (p.Leu1344Val) c.4018C>G (p.Leu1340Val) c.94-73083C>G (n.94-73083C>G) c.94-73572C>G (n.94-73572C>G) n.336-221219C>G c.4006C>G (p.Leu1336Val) c.3661C>G (p.Leu1221Val) c.3901C>G (p.Leu1301Val) | |
| X | g.32438282G= | CA2422803718 | DMD | c.4030C= (p.Leu1344=) c.4018C= (p.Leu1340=) c.94-73083C= (n.94-73083C=) c.94-73572C= (n.94-73572C=) n.336-221219C= c.4006C= (p.Leu1336=) c.3661C= (p.Leu1221=) c.3901C= (p.Leu1301=) | |
| X | g.32438282G>T | CA412669288 | DMD | c.4030C>A (p.Leu1344Ile) c.4018C>A (p.Leu1340Ile) c.94-73083C>A (n.94-73083C>A) c.94-73572C>A (n.94-73572C>A) n.336-221219C>A c.4006C>A (p.Leu1336Ile) c.3661C>A (p.Leu1221Ile) c.3901C>A (p.Leu1301Ile) | |
| X | g.32438283T>A | CA412669289 | DMD | c.4029A>T (p.Glu1343Asp) c.4017A>T (p.Glu1339Asp) c.94-73084A>T (n.94-73084A>T) c.94-73573A>T (n.94-73573A>T) n.336-221220A>T c.4005A>T (p.Glu1335Asp) c.3660A>T (p.Glu1220Asp) c.3900A>T (p.Glu1300Asp) | |
| X | g.32438283T>C | CA515721820 | DMD | c.4029A>G (p.Glu1343=) c.4017A>G (p.Glu1339=) c.94-73084A>G (n.94-73084A>G) c.94-73573A>G (n.94-73573A>G) n.336-221220A>G c.4005A>G (p.Glu1335=) c.3660A>G (p.Glu1220=) c.3900A>G (p.Glu1300=) | |
| X | g.32438283T>G | CA412669290 | DMD | c.4029A>C (p.Glu1343Asp) c.4017A>C (p.Glu1339Asp) c.94-73084A>C (n.94-73084A>C) c.94-73573A>C (n.94-73573A>C) n.336-221220A>C c.4005A>C (p.Glu1335Asp) c.3660A>C (p.Glu1220Asp) c.3900A>C (p.Glu1300Asp) | |
| X | g.32438284T>A | CA412669292 | DMD | c.4028A>T (p.Glu1343Val) c.4016A>T (p.Glu1339Val) c.94-73085A>T (n.94-73085A>T) c.94-73574A>T (n.94-73574A>T) n.336-221221A>T c.4004A>T (p.Glu1335Val) c.3659A>T (p.Glu1220Val) c.3899A>T (p.Glu1300Val) | |
| X | g.32438284T>C | CA412669293 | DMD | c.4028A>G (p.Glu1343Gly) c.4016A>G (p.Glu1339Gly) c.94-73085A>G (n.94-73085A>G) c.94-73574A>G (n.94-73574A>G) n.336-221221A>G c.4004A>G (p.Glu1335Gly) c.3659A>G (p.Glu1220Gly) c.3899A>G (p.Glu1300Gly) | |
| X | g.32438284T>G | CA412669291 | DMD | c.4028A>C (p.Glu1343Ala) c.4016A>C (p.Glu1339Ala) c.94-73085A>C (n.94-73085A>C) c.94-73574A>C (n.94-73574A>C) n.336-221221A>C c.4004A>C (p.Glu1335Ala) c.3659A>C (p.Glu1220Ala) c.3899A>C (p.Glu1300Ala) | |
| X | g.32438285C>A | CA412669294 | DMD | c.4027G>T (p.Glu1343Ter) c.4015G>T (p.Glu1339Ter) c.94-73086G>T (n.94-73086G>T) c.94-73575G>T (n.94-73575G>T) n.336-221222G>T c.4003G>T (p.Glu1335Ter) c.3658G>T (p.Glu1220Ter) c.3898G>T (p.Glu1300Ter) | COSMIC COSMIC COSMIC |
| X | g.32438285C>G | CA412669296 | DMD | c.4027G>C (p.Glu1343Gln) c.4015G>C (p.Glu1339Gln) c.94-73086G>C (n.94-73086G>C) c.94-73575G>C (n.94-73575G>C) n.336-221222G>C c.4003G>C (p.Glu1335Gln) c.3658G>C (p.Glu1220Gln) c.3898G>C (p.Glu1300Gln) | |
| X | g.32438285C>T | CA412669295 | DMD | c.4027G>A (p.Glu1343Lys) c.4015G>A (p.Glu1339Lys) c.94-73086G>A (n.94-73086G>A) c.94-73575G>A (n.94-73575G>A) n.336-221222G>A c.4003G>A (p.Glu1335Lys) c.3658G>A (p.Glu1220Lys) c.3898G>A (p.Glu1300Lys) | |
| X | g.32438286C>A | CA412669297 | DMD | c.4026G>T (p.Glu1342Asp) c.4014G>T (p.Glu1338Asp) c.94-73087G>T (n.94-73087G>T) c.94-73576G>T (n.94-73576G>T) n.336-221223G>T c.4002G>T (p.Glu1334Asp) c.3657G>T (p.Glu1219Asp) c.3897G>T (p.Glu1299Asp) |