(used for variant description)
(last modified October 11, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000076.2 in the CDKN1C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008022.1, covering CDKN1C transcript NM_000076.2.
(upstream sequence)
. . . g.5036
agtgcgctgtgctcgaggggtgccggccaggcctga c.-241
. . . . . . g.5096
gcgagcgagctagccagcaggcatcgagggggcgcggctgccgtccggacgagacaggcg c.-181
. . . . . . g.5156
aacccgacgcagaagagtccaccaccggacagccaggtagccgccgcgtccctcgcacac c.-121
. . . . . . g.5216
gcagagtcgggcggcgcggggtctcccttgcgcccggcctccgccctctcctcctctcct c.-61
. . . . . . g.5276
ttccccttcttctcgctgtcctctcctctctcgctgcccgcgtttgcgcagccccgggcc c.-1
. . . . . . g.5336
ATGTCCGACGCGTCCCTCCGCAGCACATCCACGATGGAGCGTCTTGTCGCCCGTGGGACC c.60
M S D A S L R S T S T M E R L V A R G T p.20
. . . . . . g.5396
TTCCCAGTACTAGTGCGCACCAGCGCCTGCCGCAGCCTCTTCGGGCCGGTGGACCACGAG c.120
F P V L V R T S A C R S L F G P V D H E p.40
. . . . . . g.5456
GAGCTGAGCCGCGAGCTGCAGGCCCGCCTGGCCGAGCTGAACGCCGAGGACCAGAACCGC c.180
E L S R E L Q A R L A E L N A E D Q N R p.60
. . . . . . g.5516
TGGGATTACGACTTCCAGCAGGACATGCCGCTGCGGGGCCCTGGACGCCTGCAGTGGACC c.240
W D Y D F Q Q D M P L R G P G R L Q W T p.80
. . . . . . g.5576
GAAGTGGACAGCGACTCGGTGCCCGCGTTCTACCGCGAGACGGTGCAGGTGGGGCGCTGC c.300
E V D S D S V P A F Y R E T V Q V G R C p.100
. . . . . . g.5636
CGCCTGCTGCTGGCGCCGCGGCCCGTCGCGGTCGCGGTGGCTGTCAGCCCGCCCCTCGAG c.360
R L L L A P R P V A V A V A V S P P L E p.120
. . . . . . g.5696
CCGGCCGCTGAGTCCCTCGACGGCCTCGAGGAGGCGCCGGAGCAGCTGCCTAGTGTCCCG c.420
P A A E S L D G L E E A P E Q L P S V P p.140
. . . . . . g.5756
GTCCCGGCCCCGGCGTCCACCCCGCCCCCAGTCCCGGTCCTGGCTCCAGCCCCGGCCCCG c.480
V P A P A S T P P P V P V L A P A P A P p.160
. . . . . . g.5816
GCTCCGGCTCCGGTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCG c.540
A P A P V A A P V A A P V A V A V L A P p.180
. . . . . . g.5876
GCCCCGGCCCCGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA c.600
A P A P A P A P A P A P A P V A A P A P p.200
. . . . . . g.5936
GCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCGCCT c.660
A P A P A P A P A P A P A P A P D A A P p.220
. . . . . . g.5996
CAAGAGAGCGCCGAGCAGGGCGCGAACCAGGGGCAGCGCGGCCAGGAGCCTCTCGCTGAC c.720
Q E S A E Q G A N Q G Q R G Q E P L A D p.240
. . . . . . g.6056
CAGCTGCACTCGGGGATTTCGGGACGTCCCGCGGCCGGCACCGCGGCCGCCAGCGCCAAC c.780
Q L H S G I S G R P A A G T A A A S A N p.260
. . . . | 02 . . g.6651
GGCGCGGCGATCAAGAAGCTGTCCGGGCCTCTGATCTCCG | ATTTCTTCGCCAAGCGCAAG c.840
G A A I K K L S G P L I S D | F F A K R K p.280
. . . . . . g.6711
AGATCAGCGCCTGAGAAGTCGTCGGGCGATGTCCCCGCGCCGTGTCCCTCTCCAAGCGCC c.900
R S A P E K S S G D V P A P C P S P S A p.300
. . . . . g.6762
GCCCCTGGCGTGGGCTCGGTGGAGCAGACCCCGCGCAAGAGGCTGCGGTGA | c.952
A P G V G S V E Q T P R K R L R X p.316
| 03 . . . . . . g.6905
gccaa | tttagagcccaaagagccccgagggaacctgccggggcagcggacgttggaaggg c.*60
. . . . . . g.6965
cgctgggcctcggctgggaccgttcatgtagcagcaaccggcggcggctgccgcagagca c.*120
. . . . . . g.7025
gcgttcggttttgtttttaaattttgaaaactgtgcaatgtattaataacgtctttttat c.*180
. . . . . . g.7085
atctaaatgtattctgcacgagaaggtacactggtcccaaggtgtaaagctttaagagtc c.*240
. . . . . . g.7145
atttatataaaatgtttaatctctgctgaaactcagtgcaaaaaaaagaaaaaagaaaaa c.*300
. . . . . . g.7205
aaaaaggaaaaaataaaaaaaccatgtatatttgtacaaaaagtttttaaagttatacta c.*360
. . . . . . g.7265
acttatattttctatttatgtccaggcgtggaccgctctgccacgcactagctcggttat c.*420
. . . . . . g.7325
tggttatgccaaaggcactctccatctcccacatctggttattgacaagtgtaactttat c.*480
. . . . . . g.7385
tttcatcgcggactctggggaagggggtcactcacaagctgtagctgccatacatgccca c.*540
. . . . . . g.7445
tctagcttgcagtctcttcgcgctttcgctgtctctcttattatgactgtgtttatctga c.*600
. . . . . . g.7505
aacttgaagacaagtctgttaaaatggttcctgagccgtctgtaccactgccccggcccc c.*660
. . . . g.7548
tcgtccgccgggttctaaataaagaggccgaaaaatgctgcaa c.*703
(downstream sequence)
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