(used for variant description)
(last modified February 14, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_177559.2 in the CSNK2A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering CSNK2A1 transcript NM_177559.2.
(upstream sequence)
. . . g.5033
cccgcctcctggtaggagggggtttccgcttcc c.-361
. . . . . . g.5093
ggcagcagcggctgcagcctcgctctggtccctgcggctggcggccgagccgtgtgtctc c.-301
. . . . . . g.5153
ctcctccatcgccgccatattgtctgtgtgagcagaggggagagcggccgccgccgctgc c.-241
. . | 02 . . . . g.20835
cgcttccaccacag | ctctatcaaggcttgtcaagcagtgtgctcatcacatggtaaatca c.-181
. . . . . . g.20895
tgcagcgtggaacctcataaaatctccaagaaacatcattcacccatactgactagtttc c.-121
. . | 03 . . . . g.40227
acatctctttg | tttgaagaaaacaggtctgaaacaaggtcttacccccagctgcttctga c.-61
. . . . . . g.40287
acacagtgactgccagatctccaaacatcaagtccagctttgtccgccaacctgtctgac c.-1
. . . . . . g.40347
ATGTCGGGACCCGTGCCAAGCAGGGCCAGAGTTTACACAGATGTTAATACACACAGACCT c.60
M S G P V P S R A R V Y T D V N T H R P p.20
. . . . | 04 . . g.43628
CGAGAATACTGGGATTACGAGTCACATGTGGTGGAATGGGG | AAATCAAGATGACTACCAG c.120
R E Y W D Y E S H V V E W G | N Q D D Y Q p.40
. . . . . . g.43688
CTGGTTCGAAAATTAGGCCGAGGTAAATACAGTGAAGTATTTGAAGCCATCAACATCACA c.180
L V R K L G R G K Y S E V F E A I N I T p.60
. . . | 05 . . . g.48931
AATAATGAAAAAGTTGTTGTTAAAATTCTCAAG | CCAGTAAAAAAGAAGAAAATTAAGCGT c.240
N N E K V V V K I L K | P V K K K K I K R p.80
. . . . . . g.48991
GAAATAAAGATTTTGGAGAATTTGAGAGGAGGTCCCAACATCATCACACTGGCAGACATT c.300
E I K I L E N L R G G P N I I T L A D I p.100
. | 06 . . . . . g.49578
GTAAAAGACCCTGTG | TCACGAACCCCCGCCTTGGTTTTTGAACACGTAAACAACACAGAC c.360
V K D P V | S R T P A L V F E H V N N T D p.120
| 07 . . . . . . g.51112
TTCAAG | CAATTGTACCAGACGTTAACAGACTATGATATTCGATTTTACATGTATGAGATT c.420
F K | Q L Y Q T L T D Y D I R F Y M Y E I p.140
| 08 . . . . . . g.53090
CTGAAG | GCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCAT c.480
L K | A L D Y C H S M G I M H R D V K P H p.160
. . . | 09 . . . g.56504
AATGTCATGATTGATCATGAGCACAGAAAG | CTACGACTAATAGACTGGGGTTTGGCTGAG c.540
N V M I D H E H R K | L R L I D W G L A E p.180
. . . . . . g.56564
TTTTATCATCCTGGCCAAGAATATAATGTCCGAGTTGCTTCCCGATACTTCAAAGGTCCT c.600
F Y H P G Q E Y N V R V A S R Y F K G P p.200
. . | 10 . . . . g.58996
GAGCTACTTGTAGACTATCAG | ATGTACGATTATAGTTTGGATATGTGGAGTTTGGGTTGT c.660
E L L V D Y Q | M Y D Y S L D M W S L G C p.220
. . . . . . g.59056
ATGCTGGCAAGTATGATCTTTCGGAAGGAGCCATTTTTCCATGGACATGACAATTATGAT c.720
M L A S M I F R K E P F F H G H D N Y D p.240
| 11 . . . . . . g.60117
CAG | TTGGTGAGGATAGCCAAGGTTCTGGGGACAGAAGATTTATATGACTATATTGACAAA c.780
Q | L V R I A K V L G T E D L Y D Y I D K p.260
. . . . | 12 . . g.61279
TACAACATTGAATTAGATCCACGTTTCAATGATATCTTGGGCAG | ACACTCTCGAAAGCGA c.840
Y N I E L D P R F N D I L G R | H S R K R p.280
. . . . . . g.61339
TGGGAACGCTTTGTCCACAGTGAAAATCAGCACCTTGTCAGCCCTGAGGCCTTGGATTTC c.900
W E R F V H S E N Q H L V S P E A L D F p.300
. . . . . . g.61399
CTGGACAAACTGCTGCGATATGACCACCAGTCACGGCTTACTGCAAGAGAGGCAATGGAG c.960
L D K L L R Y D H Q S R L T A R E A M E p.320
. | 13 . . . . . g.62423
CACCCCTATTTCT | ACACTGTTGTGAAGGACCAGGCTCGAATGGGTTCATCTAGCATGCCA c.1020
H P Y F Y | T V V K D Q A R M G S S S M P p.340
. . . . | 14 . . g.64782
GGGGGCAGTACGCCCGTCAGCAGCGCCAATATGATGTCAG | GGATTTCTTCAGTGCCAACC c.1080
G G S T P V S S A N M M S G | I S S V P T p.360
. . . . . . g.64842
CCTTCACCCCTTGGACCTCTGGCAGGCTCACCAGTGATTGCTGCTGCCAACCCCCTTGGG c.1140
P S P L G P L A G S P V I A A A N P L G p.380
. . . g.64878
ATGCCTGTTCCAGCTGCCGCTGGCGCTCAGCAGTAA c.1176
M P V P A A A G A Q Q X p.391
. . . . . . g.64938
cggccctatctgtctcctgatgcctgagcagaggtgggggagtccaccctctccttgatg c.*60
. . . . . . g.64998
cagcttgcgcctggcggggaggggtgaaacacttcagaagcaccgtgtctgaaccgttgc c.*120
. . . . . . g.65058
ttgtggatttatagtagttcagtcataaaaaaaaaattataataggctgattttcttttt c.*180
. . . . . . g.65118
tctttttttttttaactcgaacttttcataactcaggggattccctgaaaaattacctgc c.*240
. . . . . . g.65178
aggtggaatatttcatggacaaatttttttttctcccctcccaaatttagttcctcatca c.*300
. . . . . . g.65238
caaaagaacaaagataaaccagcctcaatcccggctgctgcatttaggtggagacttctt c.*360
. . . . . . g.65298
cccattcccaccattgttcctccaccgtcccacactttagggggttggtatctcgtgctc c.*420
. . . . . . g.65358
ttctccagagattacaaaaatgtagcttctcaggggaggcaggaagaaaggaaggaagga c.*480
. . . . . . g.65418
aagaaggaagggaggacccaatctataggagcagtggactgcttgctggtcgcttacatc c.*540
. . . . . . g.65478
actttactccataagcgcttcagtggggttatcctagtggctcttgtggaagtgtgtctt c.*600
. . . . . . g.65538
agttacatcaagatgttgaaaatctacccaaaatgcagacagatactaaaaacttctgtt c.*660
. . . . . . g.65598
cagtaagaatcatgtcttactgatctaaccctaaatccaactcatttatacttttatttt c.*720
. . . . . . g.65658
tagttcagtttaaaatgttgataccttccctcccaggctccttaccttggtcttttccct c.*780
. . . . . . g.65718
gttcatctcccaacatgctgtgctccatagctggtaggagagggaaggcaaaatctttct c.*840
. . . . . . g.65778
tagttttctttgtcttggccattttgaattcatttagttactgggcataacttactgctt c.*900
. . . . . . g.65838
tttacaaaagaaacaaacattgtctgtacaggtttcatgctagagctaatgggagatgtg c.*960
. . . . . . g.65898
gccacactgacttccattttaagctttctaccttcttttcctccgaccgtccccttccct c.*1020
. . . . . . g.65958
cacatgccatccagtgagaagacctgctcctcagtcttgtaaatgtatcttgagaggtag c.*1080
. . . . . . g.66018
gagcagagccactatctccattgaagctgaaatggtagacctgtaattgtgggaaaacta c.*1140
. . . . . . g.66078
taaactctcttgttacagccccgccaccccttgctgtgtgtatatatataatactttgtc c.*1200
. . . . . . g.66138
cttcatatgtgaaagatccagtgttggaattctttggtgtaaataaacgtttggttttat c.*1260
g.66145
ttatcaa c.*1267
(downstream sequence)
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