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.149980435_149980458del | CA2573139274 | SLC26A2 | c.842_865del (p.Asn281_Thr288del) c.372+2084_372+2107del (n.372+2084_372+2107del) | ClinVar dbSNP |
| 5 | g.149980453_149980455del | CA805557743 | SLC26A2 | c.860_862del (p.Ile287del) c.372+2102_372+2104del (n.372+2102_372+2104del) | dbSNP |
| 5 | g.149980454C>A | CA447402215 | SLC26A2 | c.861C>A (p.Ile287=) c.372+2103C>A (n.372+2103C>A) | |
| 5 | g.149980454C>G | CA361706437 | SLC26A2 | c.861C>G (p.Ile287Met) c.372+2103C>G (n.372+2103C>G) | |
| 5 | g.149980454C>T | CA447402216 | SLC26A2 | c.861C>T (p.Ile287=) c.372+2103C>T (n.372+2103C>T) | |
| 5 | g.149980455A= | CA1590738376 | SLC26A2 | c.862A= (p.Thr288=) c.372+2104A= (n.372+2104A=) | |
| 5 | g.149980455A>C | CA361706438 | SLC26A2 | c.862A>C (p.Thr288Pro) c.372+2104A>C (n.372+2104A>C) | |
| 5 | g.149980455A>G | CA3505343 | SLC26A2 | c.862A>G (p.Thr288Ala) c.372+2104A>G (n.372+2104A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980455A>T | CA361706439 | SLC26A2 | c.862A>T (p.Thr288Ser) c.372+2104A>T (n.372+2104A>T) | |
| 5 | g.149980456C>A | CA361706440 | SLC26A2 | c.863C>A (p.Thr288Asn) c.372+2105C>A (n.372+2105C>A) | |
| 5 | g.149980456C>G | CA361706441 | SLC26A2 | c.863C>G (p.Thr288Ser) c.372+2105C>G (n.372+2105C>G) | |
| 5 | g.149980456C>T | CA361706442 | SLC26A2 | c.863C>T (p.Thr288Ile) c.372+2105C>T (n.372+2105C>T) | |
| 5 | g.149980457T>A | CA447402222 | SLC26A2 | c.864T>A (p.Thr288=) c.372+2106T>A (n.372+2106T>A) | |
| 5 | g.149980457T>C | CA447402221 | SLC26A2 | c.864T>C (p.Thr288=) c.372+2106T>C (n.372+2106T>C) | ClinVar |
| 5 | g.149980457T>G | CA447402220 | SLC26A2 | c.864T>G (p.Thr288=) c.372+2106T>G (n.372+2106T>G) | |
| 5 | g.149980458A= | CA1590738377 | SLC26A2 | c.865A= (p.Thr289=) c.372+2107A= (n.372+2107A=) | |
| 5 | g.149980458A>C | CA361706444 | SLC26A2 | c.865A>C (p.Thr289Pro) c.372+2107A>C (n.372+2107A>C) | |
| 5 | g.149980458A>G | CA361706445 | SLC26A2 | c.865A>G (p.Thr289Ala) c.372+2107A>G (n.372+2107A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980458A>T | CA361706443 | SLC26A2 | c.865A>T (p.Thr289Ser) c.372+2107A>T (n.372+2107A>T) | |
| 5 | g.149980459C>A | CA361706446 | SLC26A2 | c.866C>A (p.Thr289Asn) c.372+2108C>A (n.372+2108C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980459C= | CA1590738378 | SLC26A2 | c.866C= (p.Thr289=) c.372+2108C= (n.372+2108C=) | |
| 5 | g.149980459C>G | CA361706447 | SLC26A2 | c.866C>G (p.Thr289Ser) c.372+2108C>G (n.372+2108C>G) | gnomAD v4 |
| 5 | g.149980459C>T | CA361706448 | SLC26A2 | c.866C>T (p.Thr289Ile) c.372+2108C>T (n.372+2108C>T) | gnomAD v4 |
| 5 | g.149980460C>A | CA447402226 | SLC26A2 | c.867C>A (p.Thr289=) c.372+2109C>A (n.372+2109C>A) | |
| 5 | g.149980460C= | CA1590738379 | SLC26A2 | c.867C= (p.Thr289=) c.372+2109C= (n.372+2109C=) | |
| 5 | g.149980460C>G | CA447402227 | SLC26A2 | c.867C>G (p.Thr289=) c.372+2109C>G (n.372+2109C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980460C>T | CA447402229 | SLC26A2 | c.867C>T (p.Thr289=) c.372+2109C>T (n.372+2109C>T) | |
| 5 | g.149980461T>A | CA361706449 | SLC26A2 | c.868T>A (p.Trp290Arg) c.372+2110T>A (n.372+2110T>A) | |
| 5 | g.149980461T>C | CA361706450 | SLC26A2 | c.868T>C (p.Trp290Arg) c.372+2110T>C (n.372+2110T>C) | |
| 5 | g.149980461T>G | CA361706451 | SLC26A2 | c.868T>G (p.Trp290Gly) c.372+2110T>G (n.372+2110T>G) | |
| 5 | g.149980461_149980462del | CA913108446 | SLC26A2 | c.868_869del (p.Trp290AspfsTer9) c.372+2110_372+2111del (n.372+2110_372+2111del) | |
| 5 | g.149980461_149980462delinsTG | CA1590738380 | SLC26A2 | c.868_869delinsTG (p.Trp290=) c.372+2110_372+2111delinsTG (n.372+2110_372+2111delinsTG) | |
| 5 | g.149980462G>A | CA361706452 | SLC26A2 | c.869G>A (p.Trp290Ter) c.372+2111G>A (n.372+2111G>A) | |
| 5 | g.149980462G>C | CA361706453 | SLC26A2 | c.869G>C (p.Trp290Ser) c.372+2111G>C (n.372+2111G>C) | |
| 5 | g.149980462G>T | CA361706454 | SLC26A2 | c.869G>T (p.Trp290Leu) c.372+2111G>T (n.372+2111G>T) | |
| 5 | g.149980463del | CA658822216 | SLC26A2 | c.870del (p.Trp290Ter) c.372+2112del (n.372+2112del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980463G>A | CA3505344 | SLC26A2 | c.870G>A (p.Trp290Ter) c.372+2112G>A (n.372+2112G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980463G>C | CA361706455 | SLC26A2 | c.870G>C (p.Trp290Cys) c.372+2112G>C (n.372+2112G>C) | |
| 5 | g.149980463G= | CA1590738381 | SLC26A2 | c.870G= (p.Trp290=) c.372+2112G= (n.372+2112G=) | |
| 5 | g.149980463G>T | CA361706456 | SLC26A2 | c.870G>T (p.Trp290Cys) c.372+2112G>T (n.372+2112G>T) | |
| 5 | g.149980464A= | CA1590738382 | SLC26A2 | c.871A= (p.Ile291=) c.372+2113A= (n.372+2113A=) | |
| 5 | g.149980464A>C | CA361706458 | SLC26A2 | c.871A>C (p.Ile291Leu) c.372+2113A>C (n.372+2113A>C) | |
| 5 | g.149980464A>G | CA361706459 | SLC26A2 | c.871A>G (p.Ile291Val) c.372+2113A>G (n.372+2113A>G) | dbSNP gnomAD v4 |
| 5 | g.149980464A>T | CA361706457 | SLC26A2 | c.871A>T (p.Ile291Leu) c.372+2113A>T (n.372+2113A>T) | |
| 5 | g.149980464_149980465insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT | CA3505345 | SLC26A2 | c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT (p.Ile291LysfsTer?) c.372+2113_372+2114insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT (n.372+2113_372+2114insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT) | dbSNP ExAC |
| 5 | g.149980465T>A | CA361706460 | SLC26A2 | c.872T>A (p.Ile291Lys) c.372+2114T>A (n.372+2114T>A) | |
| 5 | g.149980465T>C | CA361706461 | SLC26A2 | c.872T>C (p.Ile291Thr) c.372+2114T>C (n.372+2114T>C) | |
| 5 | g.149980465T>G | CA361706462 | SLC26A2 | c.872T>G (p.Ile291Arg) c.372+2114T>G (n.372+2114T>G) | |
| 5 | g.149980466A= | CA1590738383 | SLC26A2 | c.873A= (p.Ile291=) c.372+2115A= (n.372+2115A=) | |
| 5 | g.149980466A>C | CA447402233 | SLC26A2 | c.873A>C (p.Ile291=) c.372+2115A>C (n.372+2115A>C) |