Transcript #00000024 (NM_004006.2, DMD gene)

Transcript name dystrophin, transcript variant Dp427m
Gene name DMD (dystrophin)
Chromosome X
Transcript - NCBI ID NM_004006.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003997.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

33956 entries on 340 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 3i_79_ c.(128_228)_*2691{0}del r.? p.?
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.?
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.?
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.?
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.?
+/. 47i_52i c.(6912+1_6913-1)_()del r.? p.?
+/. 9i_79_ c.(960+17577_960+17627)_*2691{0} r.? p.?
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs)
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs)
+/. _1_79 c.(?_-183)_(*1524_?){0} r.? p.?
+/. 0i_1i c.-241_(31+1_32-1){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)dup r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.?
+/. 0i_12i c.-244(_-183)_(1384_1601){0} r.? p.(fs*)
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.0?
+/. 0i_16i c.-244(_-183)_(1851_2084){0} r.? p.(fs*)
+/. 0i_18i c.-244(_-183)_(2225_2293-10){0} r.? p.0?
+/. 0i_6i c.-244(_-183)_(410_557){0} r.0? p.0?
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.?
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.(fs*)
+/. 0i_2i c.-244(_-183)_(58_127){0} r.0? p.0?
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?
+?/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?
+/. 0i_43i c.-244(_-183)_(6195_6381){0} r.? p.?
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.?
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.?
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.(fs*)
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0?
+/. 0i_47i c.-244(_-183)_(6809_7017){0} r.? p.?
+/. 0i_48i c.-244(_-183)_(7017_7099-11)del r.? p.?
+/. 0i_48i c.-244(_-183)_(7017_7099-11){0} r.? p.(fs*)
./. 0i_55i c.-244(_-183)_(8068_8390+10){0} r.? p.?
+/. 0i_9i c.-244(_-183)_(858_987)del r.? p.?
+/. 0i_9i c.-244(_-183)_(858_987){0} r.? p.(fs*)
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.?
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.?
+/. 0i_62i c.-244(_-183)_(9186_9245){0} r.? p.?
+/. _0_79 c.-244_(*1524_?){0} r.0? p.0?
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*)
./. _0_1i c.-244_(-182_59){0} r.? p.?
./. _0_1i c.-244_(-182_59){0} r.? p.?
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*)
+/. _0_1i c.-244_(-182_59){0} r.? p.0?
-?/. _0_1i c.-244_(-183_58){2} r.? p.?
-?/. _0_1i c.-244_(-183_58){2} r.? p.?
-?/. _0_1i c.-244_(-183_58){2} r.? p.?
-?/. _0_1i c.-244_(-183_58){2} r.? p.?
+/. _0_1i c.-244_(-183_58){2} r.? p.?
+/. _0_1i c.-244_(-18{0}2_59){0} r.? p.?
./. _0_17i c.-244_(2085_2226){0} r.? p.?
+/. _1_ c.-244_(31+1_94-1){0} r.? p.?
+/. _0_39i c.-244_(5449-4_5587-23){0} r.? p.(fs*)
+/. _0_2i c.-244_(59_128){0} r.? p.?
+/. _0_2i c.-244_(59_128){0} r.? p.(fs*)
./. 0i_2i c.-244_(59_128){0} r.? p.?
+/. _0_44i c.-244_(6382_6538){0} r.? p.?
+/. _0_44i c.-244_(6382_6538){0} r.? p.(fs*)
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.?
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.?
+/. _0_47i c.-244_(6810_7018){0} r.0? p.0?
+/. _0_60i c.-244_(8967_9117){0} r.? p.0?
+/. _0_2i c.-244_(93+17277_93+17327){2} r.? p.?
+/. _0_2i c.-244_(93+1_94-1){2} r.? p.?
+/. _0_79_ c.-244_*2691{0} r.0 p.0
+/. _0_79_ c.-244_*2691{0} r.0? p.?
+/. _0_79_ c.-244_*2691{0} r.0? p.?
./. _0_0i c.-244_-244(_-182)del r.? p.?
+/. _0_1i c.-244__(-182_59){0} r.? p.?
+/. _0_29i c.-244__(3991_4194)del r.? p.?
+/. _0_2i c.-244__(59_128)del r.? p.?
+/. _0_2i c.-244__(59_128)del r.? p.?
+/. _0_2i c.-244__(59_128){0} r.? p.0?
+/. _0_43i c.-244__(6196_6382){0} r.? p.0?
+/. _0_44i c.-244__(6382_6538)del r.? p.?
+/. _0_51i c.-244__(7423_7629){0} r.? p.?
+/. 0i_7i c.?_(650-20770_650-20613)del r.0? p.0?
+/+ _79_ c.?_(11047-1_*1)del r.(del?) p.(del?)
+/. - c.?C>T r.(?) p.(?)
-/. 50i_53i c.?_?ins7309+8773_7872+5326 r.0 p.0
-/. - c.?_?ins[9286+704_*2691{2};8217+56784_8218-5685;7309+8773_7872+5326;9286+704_*2691{2}] r.0 p.0
+?/. _0_1i c.(?_-989604)_(31+79696_32-1)dup r.(?) p.(?)
-/. _0 c.-202238G>A r.(?) p.(=)
+/. _0_9i c.-244_(960+1_961-1){0} r.0? p.0?
-?/. _0 c.-128499_-128498del r.(?) p.(=)
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