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 |
|---|---|---|---|---|---|
| 5 | g.70946066_70951991del | CA1139658875 | SMN1 | c.724_885del c.628_789del c.724_835-448del c.724_*59-448del c.523_684del c.427_588del c.628_739-448del | ClinVar |
| 5 | g.70951919_70952011delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT | CA1554174100 | SMN1 | c.835-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.739-22_*20delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.835-520_835-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT (n.835-520_835-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT) c.*59-520_*59-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT (n.*59-520_*59-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT) n.89-22_142+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.634-22_*20delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.739-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.634-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.538-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.739-520_739-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT (n.739-520_739-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT) | |
| 5 | g.70951920_70952011del | CA891843196 | SMN1 | c.835-21_*3+17del c.739-21_*20del c.835-519_835-428del (n.835-519_835-428del) c.*59-519_*59-428del (n.*59-519_*59-428del) n.89-21_142+17del c.634-21_*20del c.739-21_*3+17del c.634-21_*3+17del c.538-21_*3+17del c.739-519_739-428del (n.739-519_739-428del) | ClinVar dbSNP |
| 5 | g.70951954dup | CA1554174122 | SMN1 | c.848dup (p.Asn283LysfsTer23) c.848dup (p.Asn283LysfsTer?) c.752dup (p.Asn251LysfsTer?) c.835-485dup (n.835-485dup) c.*59-485dup (n.*59-485dup) n.102dup c.647dup (p.Asn216LysfsTer?) c.752dup (p.Asn251LysfsTer23) c.647dup (p.Asn216LysfsTer23) c.551dup (p.Asn184LysfsTer23) c.739-485dup (n.739-485dup) | dbSNP |
| 5 | g.70951952A>C | CA360098188 | SMN1 | c.846A>C (p.Gln282His) c.750A>C (p.Gln250His) c.835-487A>C (n.835-487A>C) c.*59-487A>C (n.*59-487A>C) n.100A>C c.645A>C (p.Gln215His) c.549A>C (p.Gln183His) c.739-487A>C (n.739-487A>C) | |
| 5 | g.70951952A>G | CA444975749 | SMN1 | c.846A>G (p.Gln282=) c.750A>G (p.Gln250=) c.835-487A>G (n.835-487A>G) c.*59-487A>G (n.*59-487A>G) n.100A>G c.645A>G (p.Gln215=) c.549A>G (p.Gln183=) c.739-487A>G (n.739-487A>G) | |
| 5 | g.70951952A>T | CA360098189 | SMN1 | c.846A>T (p.Gln282His) c.750A>T (p.Gln250His) c.835-487A>T (n.835-487A>T) c.*59-487A>T (n.*59-487A>T) n.100A>T c.645A>T (p.Gln215His) c.549A>T (p.Gln183His) c.739-487A>T (n.739-487A>T) | |
| 5 | g.70951953A= | CA1554174124 | SMN1 | c.847A= (p.Asn283=) c.751A= (p.Asn251=) c.835-486A= (n.835-486A=) c.*59-486A= (n.*59-486A=) n.101A= c.646A= (p.Asn216=) c.550A= (p.Asn184=) c.739-486A= (n.739-486A=) | |
| 5 | g.70951953A>C | CA360098196 | SMN1 | c.847A>C (p.Asn283His) c.751A>C (p.Asn251His) c.835-486A>C (n.835-486A>C) c.*59-486A>C (n.*59-486A>C) n.101A>C c.646A>C (p.Asn216His) c.550A>C (p.Asn184His) c.739-486A>C (n.739-486A>C) | ClinVar dbSNP |
| 5 | g.70951953A>G | CA360098199 | SMN1 | c.847A>G (p.Asn283Asp) c.751A>G (p.Asn251Asp) c.835-486A>G (n.835-486A>G) c.*59-486A>G (n.*59-486A>G) n.101A>G c.646A>G (p.Asn216Asp) c.550A>G (p.Asn184Asp) c.739-486A>G (n.739-486A>G) | |
| 5 | g.70951953A>T | CA360098193 | SMN1 | c.847A>T (p.Asn283Tyr) c.751A>T (p.Asn251Tyr) c.835-486A>T (n.835-486A>T) c.*59-486A>T (n.*59-486A>T) n.101A>T c.646A>T (p.Asn216Tyr) c.550A>T (p.Asn184Tyr) c.739-486A>T (n.739-486A>T) | |
| 5 | g.70951954A>C | CA360098207 | SMN1 | c.848A>C (p.Asn283Thr) c.752A>C (p.Asn251Thr) c.835-485A>C (n.835-485A>C) c.*59-485A>C (n.*59-485A>C) n.102A>C c.647A>C (p.Asn216Thr) c.551A>C (p.Asn184Thr) c.739-485A>C (n.739-485A>C) | |
| 5 | g.70951954A>G | CA360098210 | SMN1 | c.848A>G (p.Asn283Ser) c.752A>G (p.Asn251Ser) c.835-485A>G (n.835-485A>G) c.*59-485A>G (n.*59-485A>G) n.102A>G c.647A>G (p.Asn216Ser) c.551A>G (p.Asn184Ser) c.739-485A>G (n.739-485A>G) | |
| 5 | g.70951954A>T | CA360098212 | SMN1 | c.848A>T (p.Asn283Ile) c.752A>T (p.Asn251Ile) c.835-485A>T (n.835-485A>T) c.*59-485A>T (n.*59-485A>T) n.102A>T c.647A>T (p.Asn216Ile) c.551A>T (p.Asn184Ile) c.739-485A>T (n.739-485A>T) | |
| 5 | g.70951955T>A | CA360098218 | SMN1 | c.849T>A (p.Asn283Lys) c.753T>A (p.Asn251Lys) c.835-484T>A (n.835-484T>A) c.*59-484T>A (n.*59-484T>A) n.103T>A c.648T>A (p.Asn216Lys) c.552T>A (p.Asn184Lys) c.739-484T>A (n.739-484T>A) | |
| 5 | g.70951955T>C | CA444975772 | SMN1 | c.849T>C (p.Asn283=) c.753T>C (p.Asn251=) c.835-484T>C (n.835-484T>C) c.*59-484T>C (n.*59-484T>C) n.103T>C c.648T>C (p.Asn216=) c.552T>C (p.Asn184=) c.739-484T>C (n.739-484T>C) | |
| 5 | g.70951955T>G | CA360098220 | SMN1 | c.849T>G (p.Asn283Lys) c.753T>G (p.Asn251Lys) c.835-484T>G (n.835-484T>G) c.*59-484T>G (n.*59-484T>G) n.103T>G c.648T>G (p.Asn216Lys) c.552T>G (p.Asn184Lys) c.739-484T>G (n.739-484T>G) | |
| 5 | g.70951956C>A | CA360098233 | SMN1 | c.850C>A (p.Gln284Lys) c.754C>A (p.Gln252Lys) c.835-483C>A (n.835-483C>A) c.*59-483C>A (n.*59-483C>A) n.104C>A c.649C>A (p.Gln217Lys) c.553C>A (p.Gln185Lys) c.739-483C>A (n.739-483C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.70951956C= | CA1554174125 | SMN1 | c.850C= (p.Gln284=) c.754C= (p.Gln252=) c.835-483C= (n.835-483C=) c.*59-483C= (n.*59-483C=) n.104C= c.649C= (p.Gln217=) c.553C= (p.Gln185=) c.739-483C= (n.739-483C=) | |
| 5 | g.70951956C>G | CA360098226 | SMN1 | c.850C>G (p.Gln284Glu) c.754C>G (p.Gln252Glu) c.835-483C>G (n.835-483C>G) c.*59-483C>G (n.*59-483C>G) n.104C>G c.649C>G (p.Gln217Glu) c.553C>G (p.Gln185Glu) c.739-483C>G (n.739-483C>G) | |
| 5 | g.70951956C>T | CA360098229 | SMN1 | c.850C>T (p.Gln284Ter) c.754C>T (p.Gln252Ter) c.835-483C>T (n.835-483C>T) c.*59-483C>T (n.*59-483C>T) n.104C>T c.649C>T (p.Gln217Ter) c.553C>T (p.Gln185Ter) c.739-483C>T (n.739-483C>T) | |
| 5 | g.70951957A= | CA1554174126 | SMN1 | c.851A= (p.Gln284=) c.755A= (p.Gln252=) c.835-482A= (n.835-482A=) c.*59-482A= (n.*59-482A=) n.105A= c.650A= (p.Gln217=) c.554A= (p.Gln185=) c.739-482A= (n.739-482A=) | |
| 5 | g.70951957A>C | CA3295119 | SMN1 | c.851A>C (p.Gln284Pro) c.755A>C (p.Gln252Pro) c.835-482A>C (n.835-482A>C) c.*59-482A>C (n.*59-482A>C) n.105A>C c.650A>C (p.Gln217Pro) c.554A>C (p.Gln185Pro) c.739-482A>C (n.739-482A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.70951957A>G | CA360098240 | SMN1 | c.851A>G (p.Gln284Arg) c.755A>G (p.Gln252Arg) c.835-482A>G (n.835-482A>G) c.*59-482A>G (n.*59-482A>G) n.105A>G c.650A>G (p.Gln217Arg) c.554A>G (p.Gln185Arg) c.739-482A>G (n.739-482A>G) | |
| 5 | g.70951957A>T | CA360098249 | SMN1 | c.851A>T (p.Gln284Leu) c.755A>T (p.Gln252Leu) c.835-482A>T (n.835-482A>T) c.*59-482A>T (n.*59-482A>T) n.105A>T c.650A>T (p.Gln217Leu) c.554A>T (p.Gln185Leu) c.739-482A>T (n.739-482A>T) | dbSNP |
| 5 | g.70951961dup | CA658683392 | SMN1 | c.855dup (p.Glu286ArgfsTer20) c.855dup (p.Glu286ArgfsTer?) c.759dup (p.Glu254ArgfsTer?) c.835-478dup (n.835-478dup) c.*59-478dup (n.*59-478dup) n.109dup c.654dup (p.Glu219ArgfsTer?) c.759dup (p.Glu254ArgfsTer20) c.654dup (p.Glu219ArgfsTer20) c.558dup (p.Glu187ArgfsTer20) c.739-478dup (n.739-478dup) | ClinVar dbSNP |
| 5 | g.70951958A= | CA1554174128 | SMN1 | c.852A= (p.Gln284=) c.756A= (p.Gln252=) c.835-481A= (n.835-481A=) c.*59-481A= (n.*59-481A=) n.106A= c.651A= (p.Gln217=) c.555A= (p.Gln185=) c.739-481A= (n.739-481A=) | |
| 5 | g.70951958A>C | CA360098253 | SMN1 | c.852A>C (p.Gln284His) c.756A>C (p.Gln252His) c.835-481A>C (n.835-481A>C) c.*59-481A>C (n.*59-481A>C) n.106A>C c.651A>C (p.Gln217His) c.555A>C (p.Gln185His) c.739-481A>C (n.739-481A>C) | |
| 5 | g.70951958A>G | CA444975796 | SMN1 | c.852A>G (p.Gln284=) c.756A>G (p.Gln252=) c.835-481A>G (n.835-481A>G) c.*59-481A>G (n.*59-481A>G) n.106A>G c.651A>G (p.Gln217=) c.555A>G (p.Gln185=) c.739-481A>G (n.739-481A>G) | dbSNP |
| 5 | g.70951958A>T | CA360098256 | SMN1 | c.852A>T (p.Gln284His) c.756A>T (p.Gln252His) c.835-481A>T (n.835-481A>T) c.*59-481A>T (n.*59-481A>T) n.106A>T c.651A>T (p.Gln217His) c.555A>T (p.Gln185His) c.739-481A>T (n.739-481A>T) | |
| 5 | g.70951958_70951962delinsAAAAG | CA1554174127 | SMN1 | c.852_856delinsAAAAG (p.Gln284=) c.756_760delinsAAAAG (p.Gln252=) c.835-481_835-477delinsAAAAG (n.835-481_835-477delinsAAAAG) c.*59-481_*59-477delinsAAAAG (n.*59-481_*59-477delinsAAAAG) n.106_110delinsAAAAG c.651_655delinsAAAAG (p.Gln217=) c.555_559delinsAAAAG (p.Gln185=) c.739-481_739-477delinsAAAAG (n.739-481_739-477delinsAAAAG) | |
| 5 | g.70951959A>C | CA360098260 | SMN1 | c.853A>C (p.Lys285Gln) c.757A>C (p.Lys253Gln) c.835-480A>C (n.835-480A>C) c.*59-480A>C (n.*59-480A>C) n.107A>C c.652A>C (p.Lys218Gln) c.556A>C (p.Lys186Gln) c.739-480A>C (n.739-480A>C) | |
| 5 | g.70951959A>G | CA360098267 | SMN1 | c.853A>G (p.Lys285Glu) c.757A>G (p.Lys253Glu) c.835-480A>G (n.835-480A>G) c.*59-480A>G (n.*59-480A>G) n.107A>G c.652A>G (p.Lys218Glu) c.556A>G (p.Lys186Glu) c.739-480A>G (n.739-480A>G) | |
| 5 | g.70951959A>T | CA360098263 | SMN1 | c.853A>T (p.Lys285Ter) c.757A>T (p.Lys253Ter) c.835-480A>T (n.835-480A>T) c.*59-480A>T (n.*59-480A>T) n.107A>T c.652A>T (p.Lys218Ter) c.556A>T (p.Lys186Ter) c.739-480A>T (n.739-480A>T) | |
| 5 | g.70951961_70951964del | CA560282551 | SMN1 | c.855_858del (p.Arg288AlafsTer5) c.759_762del (p.Arg256AlafsTer5) c.835-478_835-475del (n.835-478_835-475del) c.*59-478_*59-475del (n.*59-478_*59-475del) n.109_112del c.654_657del (p.Arg221AlafsTer5) c.558_561del (p.Arg189AlafsTer5) c.739-478_739-475del (n.739-478_739-475del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.70951960A>C | CA360098270 | SMN1 | c.854A>C (p.Lys285Thr) c.758A>C (p.Lys253Thr) c.835-479A>C (n.835-479A>C) c.*59-479A>C (n.*59-479A>C) n.108A>C c.653A>C (p.Lys218Thr) c.557A>C (p.Lys186Thr) c.739-479A>C (n.739-479A>C) | |
| 5 | g.70951960A>G | CA360098273 | SMN1 | c.854A>G (p.Lys285Arg) c.758A>G (p.Lys253Arg) c.835-479A>G (n.835-479A>G) c.*59-479A>G (n.*59-479A>G) n.108A>G c.653A>G (p.Lys218Arg) c.557A>G (p.Lys186Arg) c.739-479A>G (n.739-479A>G) | |
| 5 | g.70951960A>T | CA360098276 | SMN1 | c.854A>T (p.Lys285Ile) c.758A>T (p.Lys253Ile) c.835-479A>T (n.835-479A>T) c.*59-479A>T (n.*59-479A>T) n.108A>T c.653A>T (p.Lys218Ile) c.557A>T (p.Lys186Ile) c.739-479A>T (n.739-479A>T) | |
| 5 | g.70951961A>C | CA360098280 | SMN1 | c.855A>C (p.Lys285Asn) c.759A>C (p.Lys253Asn) c.835-478A>C (n.835-478A>C) c.*59-478A>C (n.*59-478A>C) n.109A>C c.654A>C (p.Lys218Asn) c.558A>C (p.Lys186Asn) c.739-478A>C (n.739-478A>C) | |
| 5 | g.70951961A>G | CA444975818 | SMN1 | c.855A>G (p.Lys285=) c.759A>G (p.Lys253=) c.835-478A>G (n.835-478A>G) c.*59-478A>G (n.*59-478A>G) n.109A>G c.654A>G (p.Lys218=) c.558A>G (p.Lys186=) c.739-478A>G (n.739-478A>G) | gnomAD v4 |
| 5 | g.70951961A>T | CA360098282 | SMN1 | c.855A>T (p.Lys285Asn) c.759A>T (p.Lys253Asn) c.835-478A>T (n.835-478A>T) c.*59-478A>T (n.*59-478A>T) n.109A>T c.654A>T (p.Lys218Asn) c.558A>T (p.Lys186Asn) c.739-478A>T (n.739-478A>T) | |
| 5 | g.70951961_70951965delinsAGAAG | CA1554174129 | SMN1 | c.855_859delinsAGAAG (p.Lys285=) c.759_763delinsAGAAG (p.Lys253=) c.835-478_835-474delinsAGAAG (n.835-478_835-474delinsAGAAG) c.*59-478_*59-474delinsAGAAG (n.*59-478_*59-474delinsAGAAG) n.109_113delinsAGAAG c.654_658delinsAGAAG (p.Lys218=) c.558_562delinsAGAAG (p.Lys186=) c.739-478_739-474delinsAGAAG (n.739-478_739-474delinsAGAAG) | |
| 5 | g.70951962G>A | CA360098290 | SMN1 | c.856G>A (p.Glu286Lys) c.760G>A (p.Glu254Lys) c.835-477G>A (n.835-477G>A) c.*59-477G>A (n.*59-477G>A) n.110G>A c.655G>A (p.Glu219Lys) c.559G>A (p.Glu187Lys) c.739-477G>A (n.739-477G>A) | |
| 5 | g.70951962G>C | CA360098288 | SMN1 | c.856G>C (p.Glu286Gln) c.760G>C (p.Glu254Gln) c.835-477G>C (n.835-477G>C) c.*59-477G>C (n.*59-477G>C) n.110G>C c.655G>C (p.Glu219Gln) c.559G>C (p.Glu187Gln) c.739-477G>C (n.739-477G>C) | gnomAD v4 |
| 5 | g.70951962G>T | CA360098287 | SMN1 | c.856G>T (p.Glu286Ter) c.760G>T (p.Glu254Ter) c.835-477G>T (n.835-477G>T) c.*59-477G>T (n.*59-477G>T) n.110G>T c.655G>T (p.Glu219Ter) c.559G>T (p.Glu187Ter) c.739-477G>T (n.739-477G>T) | |
| 5 | g.70951967_70951970del | CA444975829 | SMN1 | c.861_864del (p.Arg288AlafsTer5) c.765_768del (p.Arg256AlafsTer5) c.835-472_835-469del (n.835-472_835-469del) c.*59-472_*59-469del (n.*59-472_*59-469del) n.115_118del c.660_663del (p.Arg221AlafsTer5) c.564_567del (p.Arg189AlafsTer5) c.739-472_739-469del (n.739-472_739-469del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.70951963A>C | CA360098294 | SMN1 | c.857A>C (p.Glu286Ala) c.761A>C (p.Glu254Ala) c.835-476A>C (n.835-476A>C) c.*59-476A>C (n.*59-476A>C) n.111A>C c.656A>C (p.Glu219Ala) c.560A>C (p.Glu187Ala) c.739-476A>C (n.739-476A>C) | |
| 5 | g.70951963A>G | CA360098295 | SMN1 | c.857A>G (p.Glu286Gly) c.761A>G (p.Glu254Gly) c.835-476A>G (n.835-476A>G) c.*59-476A>G (n.*59-476A>G) n.111A>G c.656A>G (p.Glu219Gly) c.560A>G (p.Glu187Gly) c.739-476A>G (n.739-476A>G) | |
| 5 | g.70951963A>T | CA360098298 | SMN1 | c.857A>T (p.Glu286Val) c.761A>T (p.Glu254Val) c.835-476A>T (n.835-476A>T) c.*59-476A>T (n.*59-476A>T) n.111A>T c.656A>T (p.Glu219Val) c.560A>T (p.Glu187Val) c.739-476A>T (n.739-476A>T) | |
| 5 | g.70951964A= | CA1554174130 | SMN1 | c.858A= (p.Glu286=) c.762A= (p.Glu254=) c.835-475A= (n.835-475A=) c.*59-475A= (n.*59-475A=) n.112A= c.657A= (p.Glu219=) c.561A= (p.Glu187=) c.739-475A= (n.739-475A=) |