(used for variant description)
(last modified June 28, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_003639.3 in the IKBKG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009896.1, covering IKBKG transcript NM_003639.3.
(upstream sequence)
. g.10621
agcccgttcctgctccgc c.-241
. . . . . . g.10681
gcttctggagcactggccaaggcgggccgattcaggacccaggttacttgggcggcgagc c.-181
. . . . . . g.10741
tggactgtttctactcctccctcctcctccactgcggggtctgaccctactccttgtgtg c.-121
. . . . . . g.10801
aggactcctctagttcagagacatattctgttcaccaaacttgactgcgctctatcgagg c.-61
. . . . . | 02 . g.14759
tcgttaaattcttcggaaatgcctcacatatagtttggcagctag | cccttgccctgttgg c.-1
. . . . . . g.14819
ATGAATAGGCACCTCTGGAAGAGCCAACTGTGTGAGATGGTGCAGCCCAGTGGTGGCCCG c.60
M N R H L W K S Q L C E M V Q P S G G P p.20
. . . . . . g.14879
GCAGCAGATCAGGACGTACTGGGCGAAGAGTCTCCTCTGGGGAAGCCAGCCATGCTGCAC c.120
A A D Q D V L G E E S P L G K P A M L H p.40
. . . . . . g.14939
CTGCCTTCAGAACAGGGCGCTCCTGAGACCCTCCAGCGCTGCCTGGAGGAGAATCAAGAG c.180
L P S E Q G A P E T L Q R C L E E N Q E p.60
| 03. . . . . . g.18974
CTCCGAG | ATGCCATCCGGCAGAGCAACCAGATTCTGCGGGAGCGCTGCGAGGAGCTTCTG c.240
L R D | A I R Q S N Q I L R E R C E E L L p.80
. . . . . . g.19034
CATTTCCAAGCCAGCCAGAGGGAGGAGAAGGAGTTCCTCATGTGCAAGTTCCAGGAGGCC c.300
H F Q A S Q R E E K E F L M C K F Q E A p.100
. . . . . . g.19094
AGGAAACTGGTGGAGAGACTCGGCCTGGAGAAGCTCGATCTGAAGAGGCAGAAGGAGCAG c.360
R K L V E R L G L E K L D L K R Q K E Q p.120
. . . | 04 . . g.21309
GCTCTGCGGGAGGTGGAGCACCTGAAGAGATGCCAGCAG | CAGATGGCTGAGGACAAGGCC c.420
A L R E V E H L K R C Q Q | Q M A E D K A p.140
. . . . . . g.21369
TCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTG c.480
S V K A Q V T S L L G E L Q E S Q S R L p.160
. . . | 05 . . g.23185
GAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCG | GGCCCGGGCGGCCAGCGAGCAG c.540
E A A T K E C Q A L E G R | A R A A S E Q p.180
. . . . . . g.23245
GCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAGCAGCAGCACAGCGTGCAGGTGGAC c.600
A R Q L E S E R E A L Q Q Q H S V Q V D p.200
. . . . . . g.23305
CAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCGCTCCGCATGGAGCGCCAGGCCGCC c.660
Q L R M Q G Q S V E A A L R M E R Q A A p.220
. | 06 . . . . . g.24493
TCGGAGGAGAA | GAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAA c.720
S E E K | R K L A Q L Q V A Y H Q L F Q E p.240
. . . . | 07 . g.25578
TACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGA | GGAATGCAGCTG c.780
Y D N H I K S S V V G S E R K R | G M Q L p.260
. . . . . . g.25638
GAAGATCTCAAACAGCAGCTCCAGCAGGCCGAGGAGGCCCTGGTGGCCAAACAGGAGGTG c.840
E D L K Q Q L Q Q A E E A L V A K Q E V p.280
. . . . . . g.25698
ATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAGATTGTGATGGAGACCGTTCCGGTG c.900
I D K L K E E A E Q H K I V M E T V P V p.300
. | 08 . . . . . g.26363
CTGAAGGCCCAG | GCGGATATCTACAAGGCGGACTTCCAGGCTGAGAGGCAGGCCCGGGAG c.960
L K A Q | A D I Y K A D F Q A E R Q A R E p.320
. . . . . . g.26423
AAGCTGGCCGAGAAGAAGGAGCTCCTGCAGGAGCAGCTGGAGCAGCTGCAGAGGGAGTAC c.1020
K L A E K K E L L Q E Q L E Q L Q R E Y p.340
. . . | 09 . . . g.26740
AGCAAACTGAAGGCCAGCTGTCAGGAGTCGGCCAG | GATCGAGGACATGAGGAAGCGGCAT c.1080
S K L K A S C Q E S A R | I E D M R K R H p.360
. . . | 10. . . g.27098
GTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCTG | CCTACCTCTCCTCTCCCCTGGCC c.1140
V E V S Q A P L P P A P A | Y L S S P L A p.380
. . . . . . g.27158
CTGCCCAGCCAGAGGAGGAGCCCCCCCGAGGAGCCACCTGACTTCTGCTGTCCCAAGTGC c.1200
L P S Q R R S P P E E P P D F C C P K C p.400
. . . . . . g.27218
CAGTATCAGGCCCCTGATATGGACACCCTGCAGATACATGTCATGGAGTGCATTGAGTAG c.1260
Q Y Q A P D M D T L Q I H V M E C I E X p.419
. . . . . . g.27278
ggccggccagtgcaaggccactgcctgccgaggacgtgcccgggaccgtgcagtctgcgc c.*60
. . . . . . g.27338
tttcctctcccgcctgcctagcccaggatgaagggctgggtggccacaactgggatgcca c.*120
. . . . . . g.27398
cctggagccccacccaggagctggccgcggcaccttacgcttcagctgttgatccgctgg c.*180
. . . . . . g.27458
tcccctcttttggggtagatgcggccccgatcaggcctgactcgctgctctttttgttcc c.*240
. . . . . . g.27518
cttctgtctgctcgaaccacttgcctcgggctaatccctccctcttcctccacccggcac c.*300
. . . . . . g.27578
tggggaagtcaagaatggggcctggggctctcagggagaactgcttcccctggcagagct c.*360
. . . . . . g.27638
gggtggcagctcttcctcccaccggacaccgacccgcccgctgctgtgccctgggagtgc c.*420
. . . . . . g.27698
tgccctcttaccatgcacacgggtgctctccttttgggctgcatgctattccattttgca c.*480
. . . . . . g.27758
gccagaccgatgtgtatttaaccagtcactattgatggacatttgggttgtttcccatct c.*540
. . . . g.27803
ttttgttaccataaataatggcatagtaaaaatccttgtgcatta c.*585
(downstream sequence)
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