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 |
|---|---|---|---|---|---|
| 12 | g.101760111_101760121del | CA2695217196 | GNPTAB | c.3162_3172del (p.Ile1055LysfsTer6) n.28_38del c.3081_3091del (p.Ile1028LysfsTer6) c.2946_2956del (p.Ile983LysfsTer6) c.1935_1945del (p.Ile646LysfsTer6) | |
| 12 | g.101760119G>A | CA481318563 | GNPTAB | c.3160C>T (p.Leu1054=) n.26C>T c.3079C>T (p.Leu1027=) c.2944C>T (p.Leu982=) c.1933C>T (p.Leu645=) | |
| 12 | g.101760119G>C | CA343391 | GNPTAB | c.3160C>G (p.Leu1054Val) n.26C>G c.3079C>G (p.Leu1027Val) c.2944C>G (p.Leu982Val) c.1933C>G (p.Leu645Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101760119G= | CA2058954317 | GNPTAB | c.3160C= (p.Leu1054=) n.26C= c.3079C= (p.Leu1027=) c.2944C= (p.Leu982=) c.1933C= (p.Leu645=) | |
| 12 | g.101760119G>T | CA386294875 | GNPTAB | c.3160C>A (p.Leu1054Ile) n.26C>A c.3079C>A (p.Leu1027Ile) c.2944C>A (p.Leu982Ile) c.1933C>A (p.Leu645Ile) | gnomAD v4 |
| 12 | g.101760120C>A | CA386294878 | GNPTAB | c.3159G>T (p.Met1053Ile) n.25G>T c.3078G>T (p.Met1026Ile) c.2943G>T (p.Met981Ile) c.1932G>T (p.Met644Ile) | |
| 12 | g.101760120C= | CA2058954321 | GNPTAB | c.3159G= (p.Met1053=) n.25G= c.3078G= (p.Met1026=) c.2943G= (p.Met981=) c.1932G= (p.Met644=) | |
| 12 | g.101760120C>G | CA242453168 | GNPTAB | c.3159G>C (p.Met1053Ile) n.25G>C c.3078G>C (p.Met1026Ile) c.2943G>C (p.Met981Ile) c.1932G>C (p.Met644Ile) | dbSNP gnomAD v4 |
| 12 | g.101760120C>T | CA386294880 | GNPTAB | c.3159G>A (p.Met1053Ile) n.25G>A c.3078G>A (p.Met1026Ile) c.2943G>A (p.Met981Ile) c.1932G>A (p.Met644Ile) | |
| 12 | g.101760120dup | CA2740092549 | GNPTAB | c.3159dup (p.Leu1054AlafsTer11) n.25dup c.3078dup (p.Leu1027AlafsTer11) c.2943dup (p.Leu982AlafsTer11) c.1932dup (p.Leu645AlafsTer11) | ClinVar |
| 12 | g.101760121A= | CA2058954323 | GNPTAB | c.3158T= (p.Met1053=) n.24T= c.3077T= (p.Met1026=) c.2942T= (p.Met981=) c.1931T= (p.Met644=) | |
| 12 | g.101760121A>C | CA386294884 | GNPTAB | c.3158T>G (p.Met1053Arg) n.24T>G c.3077T>G (p.Met1026Arg) c.2942T>G (p.Met981Arg) c.1931T>G (p.Met644Arg) | |
| 12 | g.101760121A>G | CA6746242 | GNPTAB | c.3158T>C (p.Met1053Thr) n.24T>C c.3077T>C (p.Met1026Thr) c.2942T>C (p.Met981Thr) c.1931T>C (p.Met644Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101760121A>T | CA386294882 | GNPTAB | c.3158T>A (p.Met1053Lys) n.24T>A c.3077T>A (p.Met1026Lys) c.2942T>A (p.Met981Lys) c.1931T>A (p.Met644Lys) | dbSNP |
| 12 | g.101760122T>A | CA386294886 | GNPTAB | c.3157A>T (p.Met1053Leu) n.23A>T c.3076A>T (p.Met1026Leu) c.2941A>T (p.Met981Leu) c.1930A>T (p.Met644Leu) | gnomAD v4 |
| 12 | g.101760122T>C | CA6746243 | GNPTAB | c.3157A>G (p.Met1053Val) n.23A>G c.3076A>G (p.Met1026Val) c.2941A>G (p.Met981Val) c.1930A>G (p.Met644Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101760122T>G | CA386294888 | GNPTAB | c.3157A>C (p.Met1053Leu) n.23A>C c.3076A>C (p.Met1026Leu) c.2941A>C (p.Met981Leu) c.1930A>C (p.Met644Leu) | |
| 12 | g.101760122T= | CA2058954325 | GNPTAB | c.3157A= (p.Met1053=) n.23A= c.3076A= (p.Met1026=) c.2941A= (p.Met981=) c.1930A= (p.Met644=) | |
| 12 | g.101760125_101760126dup | CA2620428020 | GNPTAB | c.3156_3157dup (p.Met1053ThrfsTer3) n.22_23dup c.3075_3076dup (p.Met1026ThrfsTer3) c.2940_2941dup (p.Met981ThrfsTer3) c.1929_1930dup (p.Met644ThrfsTer3) | gnomAD v4 |
| 12 | g.101760123G>A | CA6746244 | GNPTAB | c.3156C>T (p.His1052=) n.22C>T c.3075C>T (p.His1025=) c.2940C>T (p.His980=) c.1929C>T (p.His643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101760123G>C | CA386294891 | GNPTAB | c.3156C>G (p.His1052Gln) n.22C>G c.3075C>G (p.His1025Gln) c.2940C>G (p.His980Gln) c.1929C>G (p.His643Gln) | |
| 12 | g.101760123G= | CA2058954328 | GNPTAB | c.3156C= (p.His1052=) n.22C= c.3075C= (p.His1025=) c.2940C= (p.His980=) c.1929C= (p.His643=) | |
| 12 | g.101760123G>T | CA386294893 | GNPTAB | c.3156C>A (p.His1052Gln) n.22C>A c.3075C>A (p.His1025Gln) c.2940C>A (p.His980Gln) c.1929C>A (p.His643Gln) | |
| 12 | g.101760124T>A | CA386294895 | GNPTAB | c.3155A>T (p.His1052Leu) n.21A>T c.3074A>T (p.His1025Leu) c.2939A>T (p.His980Leu) c.1928A>T (p.His643Leu) | |
| 12 | g.101760124T>C | CA6746245 | GNPTAB | c.3155A>G (p.His1052Arg) n.21A>G c.3074A>G (p.His1025Arg) c.2939A>G (p.His980Arg) c.1928A>G (p.His643Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101760124T>G | CA386294898 | GNPTAB | c.3155A>C (p.His1052Pro) n.21A>C c.3074A>C (p.His1025Pro) c.2939A>C (p.His980Pro) c.1928A>C (p.His643Pro) | |
| 12 | g.101760124T= | CA2058954333 | GNPTAB | c.3155A= (p.His1052=) n.21A= c.3074A= (p.His1025=) c.2939A= (p.His980=) c.1928A= (p.His643=) | |
| 12 | g.101760125G>A | CA386294901 | GNPTAB | c.3154C>T (p.His1052Tyr) n.20C>T c.3073C>T (p.His1025Tyr) c.2938C>T (p.His980Tyr) c.1927C>T (p.His643Tyr) | |
| 12 | g.101760125G>C | CA386294902 | GNPTAB | c.3154C>G (p.His1052Asp) n.20C>G c.3073C>G (p.His1025Asp) c.2938C>G (p.His980Asp) c.1927C>G (p.His643Asp) | |
| 12 | g.101760125G>T | CA386294904 | GNPTAB | c.3154C>A (p.His1052Asn) n.20C>A c.3073C>A (p.His1025Asn) c.2938C>A (p.His980Asn) c.1927C>A (p.His643Asn) | gnomAD v4 |
| 12 | g.101760126T>A | CA386294905 | GNPTAB | c.3153A>T (p.Glu1051Asp) n.19A>T c.3072A>T (p.Glu1024Asp) c.2937A>T (p.Glu979Asp) c.1926A>T (p.Glu642Asp) | |
| 12 | g.101760126T>C | CA481318570 | GNPTAB | c.3153A>G (p.Glu1051=) n.19A>G c.3072A>G (p.Glu1024=) c.2937A>G (p.Glu979=) c.1926A>G (p.Glu642=) | ClinVar |
| 12 | g.101760126T>G | CA386294907 | GNPTAB | c.3153A>C (p.Glu1051Asp) n.19A>C c.3072A>C (p.Glu1024Asp) c.2937A>C (p.Glu979Asp) c.1926A>C (p.Glu642Asp) | |
| 12 | g.101760127T>A | CA386294909 | GNPTAB | c.3152A>T (p.Glu1051Val) n.18A>T c.3071A>T (p.Glu1024Val) c.2936A>T (p.Glu979Val) c.1925A>T (p.Glu642Val) | |
| 12 | g.101760127T>C | CA386294913 | GNPTAB | c.3152A>G (p.Glu1051Gly) n.18A>G c.3071A>G (p.Glu1024Gly) c.2936A>G (p.Glu979Gly) c.1925A>G (p.Glu642Gly) | gnomAD v4 |
| 12 | g.101760127T>G | CA386294911 | GNPTAB | c.3152A>C (p.Glu1051Ala) n.18A>C c.3071A>C (p.Glu1024Ala) c.2936A>C (p.Glu979Ala) c.1925A>C (p.Glu642Ala) | |
| 12 | g.101760128C>A | CA386294915 | GNPTAB | c.3151G>T (p.Glu1051Ter) n.17G>T c.3070G>T (p.Glu1024Ter) c.2935G>T (p.Glu979Ter) c.1924G>T (p.Glu642Ter) | |
| 12 | g.101760128C>G | CA386294917 | GNPTAB | c.3151G>C (p.Glu1051Gln) n.17G>C c.3070G>C (p.Glu1024Gln) c.2935G>C (p.Glu979Gln) c.1924G>C (p.Glu642Gln) | |
| 12 | g.101760128C>T | CA386294919 | GNPTAB | c.3151G>A (p.Glu1051Lys) n.17G>A c.3070G>A (p.Glu1024Lys) c.2935G>A (p.Glu979Lys) c.1924G>A (p.Glu642Lys) | gnomAD v4 |
| 12 | g.101760129del | CA2620428054 | GNPTAB | c.3151del (p.Glu1051AsnfsTer4) n.17del c.3070del (p.Glu1024AsnfsTer4) c.2935del (p.Glu979AsnfsTer4) c.1924del (p.Glu642AsnfsTer4) | gnomAD v4 |
| 12 | g.101760129C>A | CA481318574 | GNPTAB | c.3150G>T (p.Leu1050=) n.16G>T c.3069G>T (p.Leu1023=) c.2934G>T (p.Leu978=) c.1923G>T (p.Leu641=) | |
| 12 | g.101760129C>G | CA481318576 | GNPTAB | c.3150G>C (p.Leu1050=) n.16G>C c.3069G>C (p.Leu1023=) c.2934G>C (p.Leu978=) c.1923G>C (p.Leu641=) | |
| 12 | g.101760129C>T | CA481318577 | GNPTAB | c.3150G>A (p.Leu1050=) n.16G>A c.3069G>A (p.Leu1023=) c.2934G>A (p.Leu978=) c.1923G>A (p.Leu641=) | ClinVar dbSNP |
| 12 | g.101760129_101760130delinsCA | CA2058954336 | GNPTAB | c.3149_3150delinsTG (p.Leu1050=) n.15_16delinsTG c.3068_3069delinsTG (p.Leu1023=) c.2933_2934delinsTG (p.Leu978=) c.1922_1923delinsTG (p.Leu641=) | |
| 12 | g.101760130del | CA6746246 | GNPTAB | c.3149del (p.Leu1050ArgfsTer5) n.15del c.3068del (p.Leu1023ArgfsTer5) c.2933del (p.Leu978ArgfsTer5) c.1922del (p.Leu641ArgfsTer5) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.101760130A= | CA2058954340 | GNPTAB | c.3149T= (p.Leu1050=) n.15T= c.3068T= (p.Leu1023=) c.2933T= (p.Leu978=) c.1922T= (p.Leu641=) | |
| 12 | g.101760130A>C | CA386294921 | GNPTAB | c.3149T>G (p.Leu1050Arg) n.15T>G c.3068T>G (p.Leu1023Arg) c.2933T>G (p.Leu978Arg) c.1922T>G (p.Leu641Arg) | |
| 12 | g.101760130A>G | CA6746247 | GNPTAB | c.3149T>C (p.Leu1050Pro) n.15T>C c.3068T>C (p.Leu1023Pro) c.2933T>C (p.Leu978Pro) c.1922T>C (p.Leu641Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101760130A>T | CA386294924 | GNPTAB | c.3149T>A (p.Leu1050Gln) n.15T>A c.3068T>A (p.Leu1023Gln) c.2933T>A (p.Leu978Gln) c.1922T>A (p.Leu641Gln) | |
| 12 | g.101760131G>A | CA481318580 | GNPTAB | c.3148C>T (p.Leu1050=) n.14C>T c.3067C>T (p.Leu1023=) c.2932C>T (p.Leu978=) c.1921C>T (p.Leu641=) | ClinVar |