(used for variant description)
(last modified October 27, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003672.3 in the CDC14A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CDC14A transcript NM_003672.3.(upstream sequence) g.5008 agagtaac c.-481 . . . . . . g.5068 tgctgaaaggaggtggcgaaggaggatccggagcagctgctgccagcccgcgggcactga c.-421 . . . . . . g.5128 agtcctcccggctgccgctcgagtagccacgggcgcgatcgggaccagaagtctcctcct c.-361 . . . . . . g.5188 ccatgatcactttggaagccgggggaagactttgccctgccctgagagctggtctgcgtt c.-301 . . . . . . g.5248 tcccaggcgcggcggcggcggagcagcagctgcagcagccgagtccaaataggagcggcc c.-241 . . . . . . g.5308 acagccaggggcgtgagcgccccgcgcggagcgagctcgggttcccctcggaatgtcccc c.-181 . . . . . . g.5368 ggggcgcccggcgcgctgaccccgaagccgcctccgccttcggcgcctgctgcctccctc c.-121 . . . . . . g.5428 ggccaggcttgttgttcgggactgtgagcttcctggctcctgggcagtggggaagccccc c.-61 . . . . . . g.5488 gggggcgagtgacttcagctggccacgacccagccctcccccgtgcgtatctcgcttaag c.-1 . . . . | 02 . g.6306 ATGGCAGCGGAGTCAGGGGAACTAATCGGGGCTTGTGAGTTCATGAAAG | ATCGGTTATAT c.60 M A A E S G E L I G A C E F M K D | R L Y p.20 . . . . . . g.6366 TTTGCTACTTTAAGGAATAGACCAAAAAGCACAGTAAATACCCACTATTTCTCCATCGAT c.120 F A T L R N R P K S T V N T H Y F S I D p.40 . . | 03 . . . . g.30119 GAGGAGCTGGTCTATGAAAA | TTTCTATGCAGATTTTGGACCGCTGAACTTGGCAATGGTG c.180 E E L V Y E N | F Y A D F G P L N L A M V p.60 . . . | 04 . . . g.43289 TACAGATATTGCTGCAAACTAAACAAGAAACTAAAA | TCATACAGTTTGTCAAGAAAGAAA c.240 Y R Y C C K L N K K L K | S Y S L S R K K p.80 . . . . . . g.43349 ATAGTGCACTACACCTGTTTTGACCAACGGAAAAGAGCAAATGCAGCATTTTTGATAGGT c.300 I V H Y T C F D Q R K R A N A A F L I G p.100 | 05 . . . . . g.76806 GCCTATGCA | GTAATCTATTTAAAGAAGACACCAGAAGAAGCCTACAGAGCACTCCTGTCT c.360 A Y A | V I Y L K K T P E E A Y R A L L S p.120 . . | 06 . . . g.92496 GGCTCAAACCCCCCCTATCTTCCATTCAG | GGATGCTTCCTTTGGAAATTGCACTTACAAT c.420 G S N P P Y L P F R | D A S F G N C T Y N p.140 . . . | 07 . . . g.95491 CTCACCATTCTCGACTGTTTGCAGGGAATCAGAAAG | GGATTACAACATGGATTTTTTGAC c.480 L T I L D C L Q G I R K | G L Q H G F F D p.160 . . . | 08 . . g.107959 TTTGAGACATTTGATGTGGATGAATATGAACATTATGAG | CGAGTTGAAAATGGTGACTTC c.540 F E T F D V D E Y E H Y E | R V E N G D F p.180 . . . . . . g.108019 AACTGGATTGTTCCAGGAAAATTTTTAGCATTTAGTGGACCACATCCTAAAAGCAAAATT c.600 N W I V P G K F L A F S G P H P K S K I p.200 | 09. . . . . . g.115237 GAGAATG | GTTATCCTCTTCACGCCCCTGAAGCCTACTTTCCTTATTTCAAAAAGCATAAT c.660 E N G | Y P L H A P E A Y F P Y F K K H N p.220 . . . . . . g.115297 GTGACTGCAGTTGTGAGGCTAAACAAAAAGATTTATGAGGCAAAGCGCTTCACAGACGCT c.720 V T A V V R L N K K I Y E A K R F T D A p.240 . . . . . . g.115357 GGCTTCGAGCACTATGACCTCTTCTTCATAGATGGCAGCACACCCAGTGACAACATCGTG c.780 G F E H Y D L F F I D G S T P S D N I V p.260 . . . . . | 10 g.120491 CGAAGGTTCCTGAACATCTGTGAGAACACCGAAGGGGCCATCGCCGTTCACTGCAAAG | CT c.840 R R F L N I C E N T E G A I A V H C K A | p.280 . . . . . . g.120551 GGTCTTGGAAGAACAGGGACATTGATAGCCTGTTATGTAATGAAACACTACAGGTTTACA c.900 G L G R T G T L I A C Y V M K H Y R F T p.300 . . . . . . g.120611 CATGCTGAAATAATTGCTTGGATTAGAATATGCCGGCCAGGCTCTATTATAGGACCCCAG c.960 H A E I I A W I R I C R P G S I I G P Q p.320 . | 11. . . . . g.136868 CAGCACTTCCTGGAAGA | AAAACAAGCATCGTTGTGGGTCCAAGGAGACATTTTCCGATCC c.1020 Q H F L E E | K Q A S L W V Q G D I F R S p.340 . . . . . . g.136928 AAACTGAAAAATCGACCATCCAGTGAAGGAAGTATTAATAAAATTCTTTCTGGCCTAGAT c.1080 K L K N R P S S E G S I N K I L S G L D p.360 . . . . . | 12. g.147354 GATATGTCTATTGGTGGAAATCTTTCAAAAACACAAAACATGGAACGATTTGGAGAG | GAT c.1140 D M S I G G N L S K T Q N M E R F G E | D p.380 . . . . . . g.147414 AACTTAGAAGATGATGATGTGGAAATGAAAAATGGTATAACCCAGGGAGACAAACTACGT c.1200 N L E D D D V E M K N G I T Q G D K L R p.400 . . . . . | 13 . g.148545 GCCTTAAAAAGTCAGAGACAGCCACGTACCTCACCATCCTGTGCATTTAG | GTCAGATGAT c.1260 A L K S Q R Q P R T S P S C A F R | S D D p.420 . . . | 14 . . g.150640 ACAAAAGGACATCCAAGAGCAGTGTCCCAGCCTTTCAG | ATTAAGTTCATCCCTGCAAGGA c.1320 T K G H P R A V S Q P F R | L S S S L Q G p.440 . . . . . . g.150700 TCTGCAGTTACTTTGAAGACATCAAAAATGGCACTGTCCCCTTCAGCAACGGCCAAGAGG c.1380 S A V T L K T S K M A L S P S A T A K R p.460 . . . . | 15 . . g.151481 ATCAACAGAACTTCTTTGTCTTCGGGTGCCACTGTAAGAAG | CTTTTCCATAAACTCCCGG c.1440 I N R T S L S S G A T V R S | F S I N S R p.480 . . . . . . g.151541 CTAGCCAGTTCTCTAGGGAACTTGAATGCTGCAACAGATGATCCAGAGAACAAAAAGACC c.1500 L A S S L G N L N A A T D D P E N K K T p.500 . . . . . . g.151601 TCCTCATCCTCTAAGGCAGGCTTCACAGCCAGCCCGTTTACCAACCTCTTGAATGGCAGC c.1560 S S S S K A G F T A S P F T N L L N G S p.520 . . . . . . g.151661 TCCCAGCCAACTACCAGAAATTACCCTGAGCTCAACAATAATCAGTACAACAGAAGCAGC c.1620 S Q P T T R N Y P E L N N N Q Y N R S S p.540 . . . . . . g.151721 AACAGCAACGGGGGCAACCTGAACAGCCCCCCAGGCCCCCACAGCGCCAAGACAGAGGAG c.1680 N S N G G N L N S P P G P H S A K T E E p.560 . . . . . . g.151781 CACACCACCATCCTCCGACCCTCCTACACCGGGCTTTCTTCTTCTTCAGCGAGATTCCTG c.1740 H T T I L R P S Y T G L S S S S A R F L p.580 . | 16 . . . g.170829 AGCCGTTCTATCCCT | TCCCTTCAGTCTGAATATGTTCATTACTAA c.1785 S R S I P | S L Q S E Y V H Y X p.594 . . . . . . g.170889 ggccttgccactccagtgaaagctgttcttctcttagacacaatttcttcatctggacga c.*60 . . . . . . g.170949 gcagtggagagggaaagcaacttcttgctggaagaatatctctgccttcttaccttaaat c.*120 . . . . . . g.171009 taaaaagagcactaagataacaccttcaagagacttgaaaacagaaaactggttaatgac c.*180 . . . . . . g.171069 tactataaatgcactgaaactatgtttatggagatttccatacttttaaagacagtttta c.*240 . . . . . . g.171129 atgttgaatttggtattttgaagggttatttttaatgtattttggtaatacatttattat c.*300 . . . . . . g.171189 tatatttacatgtacagtgttacattatatatgtattgtgaactttaaaagactattttg c.*360 . . . . . . g.171249 ataaatttataaatatataaaattatgtaaaaactacactatattttgatttagattttc c.*420 . . . . . . g.171309 ctgctgtttgctaccaaaaatttgtattttaaatctgtttagttttagtatggttttgtc c.*480 . . . . . . g.171369 tctaatgaataaataattccttcttattaagaagaagtaagggagaaagtttttagaaag c.*540 . . . . . . g.171429 tgatttttatgctcgcactataaatatggcaggtcagttcattcttttgggaagtcagtt c.*600 . . . . . . g.171489 tagttacactgagtttatccaagtttatctctaccaagagtataatggcatgggatggct c.*660 . . . . . . g.171549 tatttaggacaattccctttcctattgtttttgttgctgagccaatttgagttagttttg c.*720 . . . . . . g.171609 catcctggggggctttaaaatacagcatgcagtgaaagatcagaattcactgaatatttc c.*780 . . . . . . g.171669 ttctgagagcatggtttcatggtttttctctatgaaatgactcaatattccaaatgtttt c.*840 . . . . . . g.171729 tttttccttcctcctttcaaaagagttcttaacccaattaggatatcctgctttgggtat c.*900 . . . . . . g.171789 gaggttgttgttgcctgtaatcacacatggtttgacatcagttttaaatcaatggagaga c.*960 . . . . . . g.171849 aaaaactgaaaaagatgctgctaagtagttctctgtattaaaggagatatttttaaaaca c.*1020 . . . . . . g.171909 gggtacaaccccctgctgcacacgctagcatatctggaacctactatgaaaatgaaagga c.*1080 . . . . . . g.171969 cccttataggtactcacagccctttcatgtaagtatgatctgatatttaggtcttcagaa c.*1140 . . . . . . g.172029 gcctgtaggtttcatttctatgaggaatcgaggagcgttacatcctgatatccttccagg c.*1200 . . . . . . g.172089 ctgcttaagaatggactgcttcgacactgaaagtgctagttaaatggattcatatgaagt c.*1260 . . . . . . g.172149 gctttactcccaaccattgagttatttataatgtatttattaggggagggtaccttgagt c.*1320 . . . . . . g.172209 ctattatatatgcttcatcaaaacatcttgttcatgttttatgtttttaaaaaaggcatt c.*1380 . . . . . . g.172269 tgaatgaatgtttgactcaggtttgttaaattaaccttcagtaactgcagtaccaaaaat c.*1440 . . . . . . g.172329 tacactcaactgatgaaaaaaacgaattgtatgatttaggaatcaaaaactaaaataagt c.*1500 . . . . . . g.172389 ggaattatgtatcttttctaaagttaaaaaagtaaaatattttattatgagttattataa c.*1560 . . . . . . g.172449 aaattggttaattgtataggaagatgacagtatttttttcaagttatcataaaaagtaat c.*1620 . . . . . . g.172509 tcagatgacatttgagaagtaggggaaagggaatcatgttgacagttttagttctgtgaa c.*1680 . . . . . . g.172569 cactaatttgtgtgaagctattaaaatgattgtaaagttgactactgtaaatttcccata c.*1740 . . . . . . g.172629 attatgtgtgtatatgtgtcatatgtatgtacatgtatatgtctaaaaattactttacac c.*1800 . . . . . . g.172689 atgtgcctacatagacacaccaagaagtggatgtatataatatagaaagtatatagcaaa c.*1860 . . . . . . g.172749 gtaattttactctgataataaaaattgtttgacatgtattttgttatgaatagtttatct c.*1920 . . . . . . g.172809 tccaaaagatattttgctctattttaaagtgtagaagaatacactgctaataaataataa c.*1980 . g.172826 aagttttattcaattta c.*1997 (downstream sequence)Legend:
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