(used for variant description)
(last modified November 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_145200.3 in the CABP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021211.1, covering CABP4 transcript NM_145200.3.(upstream sequence) . g.5017 cataagcagctttatgg c.-61 . . . . . . g.5077 gtcctgaaagccaagggtgcccaggggtgtggtgtctctgagccctgttatccctccccc c.-1 . . . . . . g.5137 ATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAG c.60 M T T E Q A R G Q Q G P N L A I G R Q K p.20 . . . . . . g.5197 CCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAG c.120 P P A G V V T P K S D A E E P P L T R K p.40 . . . . . . g.5257 AGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAG c.180 R S K K E R G L R G S R K R T G S S G E p.60 . . . . . . g.5317 CAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCG c.240 Q T G P E A P G S S N N P P S T G E G P p.80 . . . . . . g.5377 GCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGT c.300 A G A P P A S P G P A S S R Q S H R H R p.100 . . . . . . g.5437 CCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTC c.360 P D S L H D A A Q R T Y G P L L N R V F p.120 | 02 . . . | 03. . . g.5975 GGGAAG | GACCGCGAACTGGGCCCCGAGGAGCTAGACG | AGCTTCAGGCCGCCTTCGAGGAG c.420 G K | D R E L G P E E L D E | L Q A A F E E p.140 . . . . . . g.6035 TTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACC c.480 F D T D R D G Y I S H R E L G D C M R T p.160 . . . . . . g.6095 CTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGC c.540 L G Y M P T E M E L L E V S Q H I K M R p.180 | 04 . . . . . . g.7285 A | TGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAG c.600 M | G G R V D F E E F V E L I G P K L R E p.200 . . . . . | 05 . g.8033 GAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAG | TTTGACAGG c.660 E T A H M L G V R E L R I A F R E | F D R p.220 . . . . . . g.8093 GACAGGGATGGACGAATTACGGTGGCGGAGCTGCGGGAGGCGGTACCGGCTCTGCTCGGG c.720 D R D G R I T V A E L R E A V P A L L G p.240 . . . . . . g.8153 GAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGAT c.780 E P L A G P E L D E M L R E V D L N G D p.260 . | 06 . . g.8325 GGCACCGTAGACTTTGACG | AGTTTGTGATGATGCTCTCCCGCCACTGA c.828 G T V D F D E | F V M M L S R H X p.275 . . . . . . g.8385 ggctccaggagggaatatctgttgcccctgcggccccagacaccagccagacccaggctg c.*60 . . . . . . g.8445 caggcctcccccaggagcctccaggatggagatggagacccagcagcccccagactactt c.*120 . . . . . . g.8505 ctatccctgaaaacacctggcctcaatgttggcttgttatgttacctgcccaccctcatc c.*180 . . . . . . g.8565 cttacctcctcctactcaagctgcctggagaagacctgctctcagctgcccaccgttcct c.*240 . . . . . . g.8625 cagtgtgagcaagatttgggtctctccagacctctgggaggtagggagttccctggcact c.*300 . . . . . . g.8685 ggcagcattcagtggggaccccccagtggcatgatgaatggagaggatggctggacccct c.*360 . . . . . . g.8745 tccactacttatgtttataattttttttttttttaatgaacttgagccgggtgcagtggc c.*420 . . . . . . g.8805 tcacacctgtaagcccagctgtcagggggcagaagcgggaggatagcttgagcccaggag c.*480 . . . . . . g.8865 tgcaagacctgcctgggcaatatactgagaccccattctccacaaaaaggaaaaataaaa c.*540 . . . . . . g.8925 gacaaaaaaacaaacaaaaaaccaaaaaacccaagtgtaaaaaaagtgagcttgaaagaa c.*600 . . . . . . g.8985 agaaagggatggctccatgtatcaaagacaaagaaatcaaagctggggttgtaagaggga c.*660 . . . . . . g.9045 gctgacgctgtgggggtttcagatctggatggaggcttggccgcctggactcctacaacc c.*720 . . . . . . g.9105 atgagtgacagaagaaccatatgagtctggggagcaagaaacaaaccccccggatatatt c.*780 . . . . . . g.9165 ccagggtctccaaaggctaagatattaatctgtctgcactgaccagtcatagaaagtggc c.*840 . . . . . . g.9225 aaggatacagatgttcagggcccagagtggaaacagctgccctaaagagcctggaactcc c.*900 . . . . . . g.9285 agggcctgcccttcaagcaggcgtgtagtctctctccagggtgtgaaaaactggaaaaaa c.*960 . . . . . . g.9345 accctgccgctcccaaaggggaacttgtgataaaaattacagattattgggctgggagtg c.*1020 . . . . . . g.9405 gtggctcacgcctgtaatcccagcactttgggaggctgaggcgggtgaattacctgaggt c.*1080 . . . . . . g.9465 caggagtttgaggccagcctgaccaacatggtgaaaccccatctctactaaaaatacaaa c.*1140 . . . . . . g.9525 aattaactgggcgaggtagcatgcacctgtaatctcagctactcggaggttgaggcagga c.*1200 . . . . . . g.9585 gaatcgcttgagcccgggaggtggagctgcagtgagctgagatcacaccattgcacccca c.*1260 . . . . . . g.9645 gcctgagcaacagatcgagactccgtctcaaaaacaaaacaaaaaaaccatactgattat c.*1320 . . . . . . g.9705 aaaagtaaagaaaccaccatgaaggagacgagacagagacaaaaacaagaggactggcat c.*1380 . . . . . . g.9765 ctcagtgtacataatacagccgcctaagagaccacaagatacatgcaaataaaagacggc c.*1440 . . . . . . g.9825 taaaaggggaagagagatcaacatgcagtaacaggatagtatgaagagagaaccggaaga c.*1500 . . . . . . g.9885 tttaaaaagtaacccaacaggccaggcgcatggctcatgcctggaatcccagcactttgg c.*1560 . . . . . . g.9945 gaggccaaggtgggtgggttgcttgagctcaggaattcgagaccagcctgggcaacatgg c.*1620 . . . . . . g.10005 tgaaaccctgtctctactaaaaatacaaaaattagccaggcgtggtggtgcttgcatctg c.*1680 . . . . . . g.10065 tggtcccaggtattctacaggctgaggtgggaggatcacttgagcccaggaggcagaggt c.*1740 . . . . . . g.10125 tgcagtgagtcgagatcgcaccactgcactccagcgtgggtaacagagtgagaatccgtc c.*1800 . . . . . . g.10185 aaaaagaaaaaaacaaaccatggcttctgttaaaaaaataaagtatattttatatataca c.*1860 . . . . . . g.10245 cacacacacacacacacacacacagccattggaatgaaaaaataatggataagctaaaca c.*1920 . . . . . . g.10305 gcagattaaacacaatttaaagattaatgaactggaagctatatctaagaaatcacttat c.*1980 . . . . . . g.10365 aatgtaacactgagagacaaaaggatggaaaatattacagggtagttaaaagtcactgga c.*2040 . . . . . . g.10425 aggctgggtgtggtggctcacgcctgtaatcccagcactttgggaggctgagacgggcgg c.*2100 . . . . . . g.10485 gtcacagggtcaggagatcgagaccatcctggctaacacagtgaaaccccatctctacta c.*2160 . . . . . . g.10545 aaaatacaaaaaaaaattagctgggcgtggtggcgggcgcctgtagtcccagctactagg c.*2220 . . . . . . g.10605 gaggctgaggcaagagaatggcgtgaacccaggaggcggagcttgcagtgagccgagatt c.*2280 . . . . . . g.10665 gcaccactgcactccagcctgggctacagagcgagactccgtctcggaaaaaaaaaaaaa c.*2340 . . . . . . g.10725 aaaaggtcactggaagactgggtgtggtggcttatgcctgtaatcccagcattttgggag c.*2400 . . . . . . g.10785 gctaaggcaggaggatcacttgaggccaggagtttgagaccagcctaacagcaagaccct c.*2460 . . . . . . g.10845 gcctcttaaaaaaaataataaaaaaataagctgggtgtagtggctcatgcttgtagttcc c.*2520 . . . . . . g.10905 agctattcaggaggctgaggtgagaggatcatttgagcccaggagttggaggctgcagtg c.*2580 . . . . . . g.10965 atcgtgccactgcactccagccttggtgacagagcaagagaccctgtctcaaagaaaaag c.*2640 . . . . . . g.11025 acagataagtccttgggagtctcagacggaggacatacatagagaatgaacaagaagcaa c.*2700 . . . . . . g.11085 taaccaaagagataatggctgaaaattttccataaagacttccacagacttcaactcccc c.*2760 . . . . . . g.11145 agattgaaggaacaaactgaagtcagagtagggtaaataaaaataaatatatatctggat c.*2820 . . . . . . g.11205 atatcccattgaaaccacagaatataaaaagcaaatcttataaataactggagagaaaag c.*2880 . . . . . . g.11265 tcagattcacggtgttctgtcaaagtgttcatgtagactaagggtggggaaactttctgt c.*2940 . . . . . . g.11325 aaagggctggagaataattattttcagctttgaggctttggtctctgttgcagctgctca c.*3000 . . . . . . g.11385 cgcaactctgctgttgaagtttgtagtgcaaagtcaagtcaacaaatgagtgtggctata c.*3060 . . . . . g.11440 tcagaaattttaataaataacagtaaaacttcatttattgacatggaaatttgaa c.*3115 (downstream sequence)Legend:
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