Transcript #00024106 (NM_033380.2, COL4A5 gene)

Transcript name transcript variant 2
Gene name COL4A5 (collagen, type IV, alpha 5)
Chromosome X
Transcript - NCBI ID NM_033380.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_203699.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

2532 entries on 26 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 1i c.81+22538A>B r.(?) p.(=)
-/. 1i c.81+22538A>B r.(?) p.(=)
+/. _1_36i c.-121660_3246+6706del r.0? p.0
+/. _1_4i c.-87860_277-1446del r.0? p.0?
+/. _1_36i c.-86239_3246+6915del r.0? p.0
+/. _1_1i c.-38333_81+1917del r.0? p.0?
+/. _1i c.-38333_81+1917del r.0? p.0?
?/. _1i c.-38333_81+1917del r.0? p.0?
+/. _1_1i c.-27291_81+18040del r.0? p.0?
+/. _1_1i c.-8024_81+8068del r.0? p.0?
-?/. - c.-2145G>C r.(?) p.(=)
?/. _1 c.-1964G>C r.= p.=
?/. - c.-16C>T r.(?) p.(=)
?/. 1 c.-13G>A r.(?) p.(=)
+/+ _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/+ _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/+ _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0?
+/+ _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0?
+/. _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0?
+/. _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0?
+/. _1_6i c.(?_-1)_(384+1_385-1)del r.0? p.0?
+/+ _1_7i c.(?_-1)_(438+1_439-1)del r.0? p.0?
+/. _1_13i c.(?_-1)_(780+1_781-1)del r.0? p.0?
+/. _1_30i c.(?_-1)_(2509+1_2510-1)del r.0? p.0?
+/. _1_36i c.(?_-1)_(3246+1_3247-1)del r.0? p.0?
+/. _1_37i c.(?_-1)_(3373+1_3374-1)del r.0? p.0?
+/+ _1_53_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0
+/. 37i_53_ c.(3373+1_3374-1)_*1167{0} r.? p.?
?/. _1_53_ c.(?_-1)_(*1_?)[2] r.(=)|2 p.(=)|2
+/. _1_1i c.-282_(81+1_82-1){0} r.0? p.0?
+/. 49i c.4528+1609? r.? p.?
+/. 51 c.? r.? p.?
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.2T>A r.(?) p.0?
+/. 1 c.2T>C r.(?) p.0?
+/. 1 c.2_3del r.(?) p.0?
+?/. 1 c.2_6del r.(?) p.0?
+?/. 1 c.3G>T r.(?) p.0?
+/. 1 c.13G>T r.(?) p.(Gly5*)
+/. 1 c.38_41dup r.(?) p.(Leu14Phefs*27)
-?/. - c.46G>T r.(?) p.(Ala16Ser)
+/. 1 c.49_50del r.(?) p.(Leu17Glufs*22)
+/. 1 c.57_58del r.(?) p.(Trp20Glyfs*19)
?/. 1 c.64C>T r.(?) p.(Gln22*)
+/+? 1 c.65_77del r.(?) p.(Gln22Leufs*18)
+/. 1i c.81+1G>C r.spl p.?
+/. 1i c.81+1G>C r.(?) p.(=)
+/+? 1i c.81+1G>C r.(?) p.(=)
+/. 1i c.81+1G>T r.(?) p.(=)
+/. 1i c.81+2dup r.spl p.?
+?/. 1i c.81+4A>C r.spl? p.?
-?/. 1i c.81+65del r.(?) p.(=)
-/. - c.81+75dup r.(=) p.(=)
-/. 1i c.81+128T>C r.(?) p.(=)
-/. 1i c.81+128T>C r.(?) p.(=)
-/. 1i c.81+1071A>G r.(?) p.(=)
-/. 1i c.81+1071A>G r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+2106G>C r.(?) p.(=)
-/. 1i c.81+3209A>T r.(?) p.(=)
-/. 1i c.81+3209A>T r.(?) p.(=)
-/. 1i c.81+5129T>C r.(?) p.(=)
-/. 1i c.81+5129T>C r.(?) p.(=)
-/. 1i c.81+6684A>G r.(?) p.(=)
-/. 1i c.81+6684A>G r.(?) p.(=)
-/. 1i c.81+8869C>T r.(?) p.(=)
-/. 1i c.81+8869C>T r.(?) p.(=)
-/. 1i c.81+8869C>T r.(?) p.(=)
-/. 1i c.81+8869C>T r.(?) p.(=)
-/. 1i c.81+8869C>T r.(?) p.(=)
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