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.154030255_154037279delinsCACAAAGTG | CA274580 | MECP2 | c.27-4722_*112delinsCACTTTGTG c.63-4722_*112delinsCACTTTGTG c.27-4722_*39delinsCACTTTGTG c.27-4722_*945delinsCACTTTGTG c.-253-4722_*112delinsCACTTTGTG c.-254+2513_*112delinsCACTTTGTG c.-535+2513_*112delinsCACTTTGTG c.-534-4722_*112delinsCACTTTGTG | ClinVar |
| X | g.154030587_154034485del | CA1139667874 | MECP2 | c.27-1928_1241del c.63-1928_1277del c.27-1928_*613del c.-253-1928_962del c.-534-1928_572del | ClinVar |
| X | g.154030593_154038357del | CA2499226465 | MECP2 | c.27-5800_1235del c.63-5800_1271del c.27-5800_*607del c.-253-5800_956del c.-254+1435_956del c.-535+1435_566del c.-534-5800_566del | ClinVar |
| X | g.154030617_154032283del | CA2573159384 | MECP2 | c.301_1211del c.337_1247del c.337_*583del c.301_*583del c.22_932del c.-260_542del | ClinVar |
| X | g.154030623_154032653del | CA274584 | MECP2 | c.27-94_1207del c.63-94_1243del c.63-94_*579del c.27-94_*579del c.-253-94_928del c.-534-94_538del | ClinVar |
| X | g.154030638_154038772del | CA274583 | MECP2 | c.27-6214_1191del c.63-6214_1227del c.63-6214_*563del c.27-6214_*563del c.-253-6214_912del c.-254+1021_912del c.-535+1021_522del c.-534-6214_522del | ClinVar |
| X | g.154030638_154038583delinsAC | CA274582 | MECP2 | c.27-6026_1190delinsGT c.63-6026_1226delinsGT c.63-6026_*562delinsGT c.27-6026_*562delinsGT c.-253-6026_911delinsGT c.-254+1209_911delinsGT c.-535+1209_521delinsGT c.-534-6026_521delinsGT | ClinVar |
| X | g.154030646_154036487del | CA274579 | MECP2 | c.27-3928_1184del c.63-3928_1220del c.63-3928_*556del c.27-3928_*556del c.-253-3928_905del c.-254+3307_905del c.-535+3307_515del c.-534-3928_515del | ClinVar |
| X | g.154030663_154037047del | CA916084238 | MECP2 | c.27-4487_1168del c.63-4487_1204del c.63-4487_*540del c.27-4487_*540del c.-253-4487_889del c.-254+2748_889del c.-535+2748_499del c.-534-4487_499del | ClinVar |
| X | g.154030672_154039641del | CA1139667883 | MECP2 | c.27-7080_1160del c.63-7080_1196del c.63-7080_*532del c.27-7080_*532del c.-253-7080_881del c.-254+155_881del c.-535+155_491del c.-534-7080_491del | ClinVar |
| X | g.154030690_154038335del | CA915952024 | MECP2 | c.27-5778_1138del c.63-5778_1174del c.63-5778_*510del c.27-5778_*510del c.-253-5778_859del c.-254+1457_859del c.-535+1457_469del c.-534-5778_469del | ClinVar |
| X | g.154030777_154032630del | CA915952026 | MECP2 | c.27-73_1051del c.63-73_1087del c.63-73_*423del c.27-73_*423del c.-253-73_772del c.-534-73_382del | ClinVar |
| X | g.154030926_154038331delinsTGACATCAGTCCGGGCAC | CA274581 | MECP2 | c.27-5774_902delinsGTGCCCGGACTGATGTCA c.63-5774_938delinsGTGCCCGGACTGATGTCA c.63-5774_*274delinsGTGCCCGGACTGATGTCA c.15-5774_888delinsGTGCCCGGACTGATGTCA c.27-5774_*274delinsGTGCCCGGACTGATGTCA c.-253-5774_623delinsGTGCCCGGACTGATGTCA c.-254+1461_623delinsGTGCCCGGACTGATGTCA c.-535+1461_233delinsGTGCCCGGACTGATGTCA c.-534-5774_233delinsGTGCCCGGACTGATGTCA | ClinVar |
| X | g.154031347_154035447del | CA891863116 | MECP2 | c.27-2890_481del c.63-2890_517del c.63-2890_468+49del n.2375-2890_2829del c.15-2890_469del c.27-2890_432+49del c.-253-2890_202del c.-534-2890_-129+49del | ClinVar |
| X | g.154032260_154032273delinsAAGCTTCCGTGTCC | CA2466571534 | MECP2 | c.311_324delinsGGACACGGAAGCTT (p.Trp104=) c.347_360delinsGGACACGGAAGCTT (p.Trp116=) c.*365_*378delinsGGACACGGAAGCTT (n.*365_*378delinsGGACACGGAAGCTT) n.2659_2672delinsGGACACGGAAGCTT c.299_312delinsGGACACGGAAGCTT (p.Trp100=) c.32_45delinsGGACACGGAAGCTT (p.Trp11=) c.-250_-237delinsGGACACGGAAGCTT (n.-250_-237delinsGGACACGGAAGCTT) | |
| X | g.154032264_154032276del | CA270343 | MECP2 | c.311_323del (p.Trp104LeufsTer17) c.347_359del (p.Trp116LeufsTer17) c.*365_*377del (n.*365_*377del) n.2659_2671del c.299_311del (p.Trp100LeufsTer17) c.32_44del (p.Trp11LeufsTer17) c.-250_-238del (n.-250_-238del) | ClinVar dbSNP |
| X | g.154032264_154032267dup | CA274585 | MECP2 | c.318_321dup (p.Leu108GlufsTer3) c.354_357dup (p.Leu120GlufsTer3) c.*372_*375dup (n.*372_*375dup) n.2666_2669dup c.306_309dup (p.Leu104GlufsTer3) c.39_42dup (p.Leu15GlufsTer3) c.-243_-240dup (n.-243_-240dup) | ClinVar dbSNP |
| X | g.154032264T>A | CA415176827 | MECP2 | c.320A>T (p.Lys107Met) c.356A>T (p.Lys119Met) c.*374A>T (n.*374A>T) n.2668A>T c.308A>T (p.Lys103Met) c.41A>T (p.Lys14Met) c.-241A>T (n.-241A>T) | |
| X | g.154032264T>C | CA415176830 | MECP2 | c.320A>G (p.Lys107Arg) c.356A>G (p.Lys119Arg) c.*374A>G (n.*374A>G) n.2668A>G c.308A>G (p.Lys103Arg) c.41A>G (p.Lys14Arg) c.-241A>G (n.-241A>G) | ClinVar dbSNP |
| X | g.154032264T>G | CA415176828 | MECP2 | c.320A>C (p.Lys107Thr) c.356A>C (p.Lys119Thr) c.*374A>C (n.*374A>C) n.2668A>C c.308A>C (p.Lys103Thr) c.41A>C (p.Lys14Thr) c.-241A>C (n.-241A>C) | |
| X | g.154032265T>A | CA415176834 | MECP2 | c.319A>T (p.Lys107Ter) c.355A>T (p.Lys119Ter) c.*373A>T (n.*373A>T) n.2667A>T c.307A>T (p.Lys103Ter) c.40A>T (p.Lys14Ter) c.-242A>T (n.-242A>T) | |
| X | g.154032265T>C | CA415176836 | MECP2 | c.319A>G (p.Lys107Glu) c.355A>G (p.Lys119Glu) c.*373A>G (n.*373A>G) n.2667A>G c.307A>G (p.Lys103Glu) c.40A>G (p.Lys14Glu) c.-242A>G (n.-242A>G) | |
| X | g.154032265T>G | CA415176839 | MECP2 | c.319A>C (p.Lys107Gln) c.355A>C (p.Lys119Gln) c.*373A>C (n.*373A>C) n.2667A>C c.307A>C (p.Lys103Gln) c.40A>C (p.Lys14Gln) c.-242A>C (n.-242A>C) | |
| X | g.154032266C>A | CA519705294 | MECP2 | c.318G>T (p.Arg106=) c.354G>T (p.Arg118=) c.*372G>T (n.*372G>T) n.2666G>T c.306G>T (p.Arg102=) c.39G>T (p.Arg13=) c.-243G>T (n.-243G>T) | |
| X | g.154032266C= | CA2466571537 | MECP2 | c.318G= (p.Arg106=) c.354G= (p.Arg118=) c.*372G= (n.*372G=) n.2666G= c.306G= (p.Arg102=) c.39G= (p.Arg13=) c.-243G= (n.-243G=) | |
| X | g.154032266C>G | CA519705295 | MECP2 | c.318G>C (p.Arg106=) c.354G>C (p.Arg118=) c.*372G>C (n.*372G>C) n.2666G>C c.306G>C (p.Arg102=) c.39G>C (p.Arg13=) c.-243G>C (n.-243G>C) | |
| X | g.154032266C>T | CA519705297 | MECP2 | c.318G>A (p.Arg106=) c.354G>A (p.Arg118=) c.*372G>A (n.*372G>A) n.2666G>A c.306G>A (p.Arg102=) c.39G>A (p.Arg13=) c.-243G>A (n.-243G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032267C>A | CA270350 | MECP2 | c.317G>T (p.Arg106Leu) c.353G>T (p.Arg118Leu) c.*371G>T (n.*371G>T) n.2665G>T c.305G>T (p.Arg102Leu) c.38G>T (p.Arg13Leu) c.-244G>T (n.-244G>T) | ClinVar dbSNP |
| X | g.154032267C= | CA2466571538 | MECP2 | c.317G= (p.Arg106=) c.353G= (p.Arg118=) c.*371G= (n.*371G=) n.2665G= c.305G= (p.Arg102=) c.38G= (p.Arg13=) c.-244G= (n.-244G=) | |
| X | g.154032267C>G | CA415176843 | MECP2 | c.317G>C (p.Arg106Pro) c.353G>C (p.Arg118Pro) c.*371G>C (n.*371G>C) n.2665G>C c.305G>C (p.Arg102Pro) c.38G>C (p.Arg13Pro) c.-244G>C (n.-244G>C) | |
| X | g.154032267C>T | CA270348 | MECP2 | c.317G>A (p.Arg106Gln) c.353G>A (p.Arg118Gln) c.*371G>A (n.*371G>A) n.2665G>A c.305G>A (p.Arg102Gln) c.38G>A (p.Arg13Gln) c.-244G>A (n.-244G>A) | ClinVar dbSNP |
| X | g.154032268G>A | CA256089 | MECP2 | c.316C>T (p.Arg106Trp) c.352C>T (p.Arg118Trp) c.*370C>T (n.*370C>T) n.2664C>T c.304C>T (p.Arg102Trp) c.37C>T (p.Arg13Trp) c.-245C>T (n.-245C>T) | ClinVar dbSNP COSMIC |
| X | g.154032268G>C | CA270345 | MECP2 | c.316C>G (p.Arg106Gly) c.352C>G (p.Arg118Gly) c.*370C>G (n.*370C>G) n.2664C>G c.304C>G (p.Arg102Gly) c.37C>G (p.Arg13Gly) c.-245C>G (n.-245C>G) | ClinVar dbSNP |
| X | g.154032268G= | CA2466571539 | MECP2 | c.316C= (p.Arg106=) c.352C= (p.Arg118=) c.*370C= (n.*370C=) n.2664C= c.304C= (p.Arg102=) c.37C= (p.Arg13=) c.-245C= (n.-245C=) | |
| X | g.154032268G>T | CA519705302 | MECP2 | c.316C>A (p.Arg106=) c.352C>A (p.Arg118=) c.*370C>A (n.*370C>A) n.2664C>A c.304C>A (p.Arg102=) c.37C>A (p.Arg13=) c.-245C>A (n.-245C>A) | |
| X | g.154032269T>A | CA519705309 | MECP2 | c.315A>T (p.Thr105=) c.351A>T (p.Thr117=) c.*369A>T (n.*369A>T) n.2663A>T c.303A>T (p.Thr101=) c.36A>T (p.Thr12=) c.-246A>T (n.-246A>T) | |
| X | g.154032269T>C | CA519705310 | MECP2 | c.315A>G (p.Thr105=) c.351A>G (p.Thr117=) c.*369A>G (n.*369A>G) n.2663A>G c.303A>G (p.Thr101=) c.36A>G (p.Thr12=) c.-246A>G (n.-246A>G) | ClinVar |
| X | g.154032269T>G | CA519705306 | MECP2 | c.315A>C (p.Thr105=) c.351A>C (p.Thr117=) c.*369A>C (n.*369A>C) n.2663A>C c.303A>C (p.Thr101=) c.36A>C (p.Thr12=) c.-246A>C (n.-246A>C) | |
| X | g.154032269dup | CA270344 | MECP2 | c.315dup (p.Arg106ThrfsTer4) c.351dup (p.Arg118ThrfsTer4) c.*369dup (n.*369dup) n.2663dup c.303dup (p.Arg102ThrfsTer4) c.36dup (p.Arg13ThrfsTer4) c.-246dup (n.-246dup) | ClinVar dbSNP |
| X | g.154032270G>A | CA415176846 | MECP2 | c.314C>T (p.Thr105Ile) c.350C>T (p.Thr117Ile) c.*368C>T (n.*368C>T) n.2662C>T c.302C>T (p.Thr101Ile) c.35C>T (p.Thr12Ile) c.-247C>T (n.-247C>T) | |
| X | g.154032270G>C | CA415176847 | MECP2 | c.314C>G (p.Thr105Arg) c.350C>G (p.Thr117Arg) c.*368C>G (n.*368C>G) n.2662C>G c.302C>G (p.Thr101Arg) c.35C>G (p.Thr12Arg) c.-247C>G (n.-247C>G) | |
| X | g.154032270G>T | CA415176848 | MECP2 | c.314C>A (p.Thr105Lys) c.350C>A (p.Thr117Lys) c.*368C>A (n.*368C>A) n.2662C>A c.302C>A (p.Thr101Lys) c.35C>A (p.Thr12Lys) c.-247C>A (n.-247C>A) | |
| X | g.154032271T>A | CA415176850 | MECP2 | c.313A>T (p.Thr105Ser) c.349A>T (p.Thr117Ser) c.*367A>T (n.*367A>T) n.2661A>T c.301A>T (p.Thr101Ser) c.34A>T (p.Thr12Ser) c.-248A>T (n.-248A>T) | |
| X | g.154032271T>C | CA415176852 | MECP2 | c.313A>G (p.Thr105Ala) c.349A>G (p.Thr117Ala) c.*367A>G (n.*367A>G) n.2661A>G c.301A>G (p.Thr101Ala) c.34A>G (p.Thr12Ala) c.-248A>G (n.-248A>G) | |
| X | g.154032271T>G | CA16609354 | MECP2 | c.313A>C (p.Thr105Pro) c.349A>C (p.Thr117Pro) c.*367A>C (n.*367A>C) n.2661A>C c.301A>C (p.Thr101Pro) c.34A>C (p.Thr12Pro) c.-248A>C (n.-248A>C) | ClinVar dbSNP |
| X | g.154032271T= | CA2466571540 | MECP2 | c.313A= (p.Thr105=) c.349A= (p.Thr117=) c.*367A= (n.*367A=) n.2661A= c.301A= (p.Thr101=) c.34A= (p.Thr12=) c.-248A= (n.-248A=) | |
| X | g.154032272C>A | CA415176854 | MECP2 | c.312G>T (p.Trp104Cys) c.348G>T (p.Trp116Cys) c.*366G>T (n.*366G>T) n.2660G>T c.300G>T (p.Trp100Cys) c.33G>T (p.Trp11Cys) c.-249G>T (n.-249G>T) | ClinVar dbSNP |
| X | g.154032272C= | CA2466571541 | MECP2 | c.312G= (p.Trp104=) c.348G= (p.Trp116=) c.*366G= (n.*366G=) n.2660G= c.300G= (p.Trp100=) c.33G= (p.Trp11=) c.-249G= (n.-249G=) | |
| X | g.154032272C>G | CA415176857 | MECP2 | c.312G>C (p.Trp104Cys) c.348G>C (p.Trp116Cys) c.*366G>C (n.*366G>C) n.2660G>C c.300G>C (p.Trp100Cys) c.33G>C (p.Trp11Cys) c.-249G>C (n.-249G>C) | |
| X | g.154032272C>T | CA415176860 | MECP2 | c.312G>A (p.Trp104Ter) c.348G>A (p.Trp116Ter) c.*366G>A (n.*366G>A) n.2660G>A c.300G>A (p.Trp100Ter) c.33G>A (p.Trp11Ter) c.-249G>A (n.-249G>A) |