(used for variant description)
(last modified May 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001320.5 in the CSNK2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering CSNK2B transcript NM_001320.5.
(upstream sequence)
. . . . g.5040
gcttctcgttgtgccccgcccgcaagcgccctcctccggg c.-301
. . . . . . g.5100
ccttcgtgacagccaggtcgtgcgcgggtcatcctgggattggtagttcgctttctctca c.-241
. . . . . . g.5160
tttagccagtttctttctctaccggggactccgtgtcccggcatccaccgcggcacctga c.-181
. . . . . . g.5220
cccttggcgcttgcgtgttgccctcttccccaccctccctaatttccactccccccaccc c.-121
. . . . . . g.5280
cacttcgcctgccgcggtcgggtccgcggcctgcgctgtagcggtcgccgccgttccctg c.-61
. . . . . | 02 g.5952
gaagtagcaacttccctaccccaccccagtcctggtccccgtccagccg | ctgacgtgaag c.-1
. . . . . . g.6012
ATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAA c.60
M S S S E E V S W I S W F C G L R G N E p.20
. | 03 . . . . . g.7036
TTCTTCTGTGAA | GTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAAT c.120
F F C E | V D E D Y I Q D K F N L T G L N p.40
. . . . . | 04 . g.7664
GAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTG | ATGAA c.180
E Q V P H Y R Q A L D M I L D L E P D | E p.60
. . . . . . g.7724
GAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTAT c.240
E L E D N P N Q S D L I E Q A A E M L Y p.80
. . . . . | 05 . g.8226
GGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATG | TTGGAAAAG c.300
G L I H A R Y I L T N R G I A Q M | L E K p.100
. . . . . . g.8286
TACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTT c.360
Y Q Q G D F G Y C P R V Y C E N Q P M L p.120
| 06. . . . . . g.8492
CCCATTG | GCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGC c.420
P I G | L S D I P G E A M V K L Y C P K C p.140
. . . . . . g.8552
ATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGC c.480
M D V Y T P K S S R H H H T D G A Y F G p.160
. . . . . . g.8612
ACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCC c.540
T G F P H M L F M V H P E Y R P K R P A p.180
. | 07. . . . . g.8999
AACCAGTTTGTGCCCAG | GCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAG c.600
N Q F V P R | L Y G F K I H P M A Y Q L Q p.200
. . . . g.9047
CTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGA c.648
L Q A A S N F K S P V K T I R X p.215
. . . . . . g.9107
ttccctcccccacctgtcctgcagtctttgacttttcctttcttttttgccaccctttca c.*60
. . . . . . g.9167
ggaaccctgtatggtttttagtttaaattaaaggagtcgttatcgtggtgggaatatgaa c.*120
. . g.9187
ataaagtagaagaaaaggcc c.*140
(downstream sequence)
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