(used for variant description)
(last modified October 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001255.2 in the CDC20 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CDC20 transcript NM_001255.2.
(upstream sequence)
. . . . g.5041
gaggcgtaagccaggcgtgttaaagccggtcggaactgctc c.-61
. . | 02 . . . . g.5261
cggagggcacg | ggctccgtaggcaccaactgcaaggacccctccccctgcgggcgctccc c.-1
. . . . . . g.5321
ATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATC c.60
M A Q F A F E S D L H S L L Q L D A P I p.20
. . . . . . g.5381
CCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCC c.120
P N A P P A R W Q R K A K E A A G P A P p.40
. . . . . . g.5441
TCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCT c.180
S P M R A A N R S H S A G R T P G R T P p.60
| 03 . . . . . . g.5594
G | GCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATC c.240
G | K S S S K V Q T T P S K P G G D R Y I p.80
. . . . . . g.5654
CCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAG c.300
P H R S A A Q M E V A S F L L S K E N Q p.100
. . . | 04 . . . g.5800
CCTGAAAACAGCCAGACGCCCACCAAGAAG | GAACATCAGAAAGCCTGGGCTTTGAACCTG c.360
P E N S Q T P T K K | E H Q K A W A L N L p.120
. . . . . . g.5860
AACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCG c.420
N G F D V E E A K I L R L S G K P Q N A p.140
| 05. . . . . . g.6067
CCAGAGG | GTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCC c.480
P E G | Y Q N R L K V L Y S Q K A T P G S p.160
. . . . . . g.6127
AGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAA c.540
S R K T C R Y I P S L P D R I L D A P E p.180
. | 06 . . . . . g.6282
ATCCGAAATGACTATT | ACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTG c.600
I R N D Y Y | L N L V D W S S G N V L A V p.200
. . . . . . g.6342
GCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTG c.660
A L D N S V Y L W S A S S G D I L Q L L p.220
. . . . . . g.6402
CAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTAC c.720
Q M E Q P G E Y I S S V A W I K E G N Y p.240
. . . | 07 . . . g.6571
TTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAG | CTATGGGATGTGCAGCAGCAGAAACGG c.780
L A V G T S S A E V Q | L W D V Q Q Q K R p.260
. . . . . . g.6631
CTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATC c.840
L R N M T S H S A R V G S L S W N S Y I p.280
| 08 . . . . . g.6830
CTGTCCAG | TGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACAC c.900
L S S | G S R S G H I H H H D V R V A E H p.300
. . . . . . g.6890
CATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGAT c.960
H V A T L S G H S Q E V C G L R W A P D p.320
. . . . . . g.6950
GGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCT c.1020
G R H L A S G G N D N L V N V W P S A P p.340
. . . . . | 09. g.7168
GGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAG | GCC c.1080
G E G G W V P L Q T F T Q H Q G A V K | A p.360
. . . . . . g.7228
GTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGA c.1140
V A W C P W Q S N V L A T G G G T S D R p.380
. . . . . . g.7288
CACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCC c.1200
H I R I W N V C S G A C L S A V D A H S p.400
| 10 . . . . . . g.8297
CAG | GTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTT c.1260
Q | V C S I L W S P H Y K E L I S G H G F p.420
. . . . . . g.8357
GCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAA c.1320
A Q N Q L V I W K Y P T M A K V A E L K p.440
| 11 . . . . . . g.9055
G | GTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCC c.1380
G | H T S R V L S L T M S P D G A T V A S p.460
. . . . . . g.9115
GCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGG c.1440
A A A D E T L R L W R C F E L D P A R R p.480
. . . . . . g.9175
CGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGA c.1500
R E R E K A S A A K S S L I H Q G I R X p.499
. . . . . . g.9235
agaccaacccatcacctcagttgttttttatttttctaataaagtcatgtctcccttcat c.*60
. g.9249
gttttttttttaaa c.*74
(downstream sequence)
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