(used for variant description)
(last modified April 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001556.2 in the IKBKB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041793.1, covering IKBKB transcript NM_001556.2.
(upstream sequence)
g.5006
gtgacg c.-181
. . . . . . g.5066
tcagagcaggaagtgtttgaggaagtcgcgccgcgctgcccgcgttaagattcccgcatt c.-121
. . . . . . g.5126
ttaatgttttcaggggggtgtcatagccccgggtttggccgccccagccccgccttcccc c.-61
. . . . . | 02 . g.5799
gccccggggagcccgccccctgccccgcgtccctgccgacag | agttagcacgacatcagt c.-1
. . . . . . g.5859
ATGAGCTGGTCACCTTCCCTGACAACGCAGACATGTGGGGCCTGGGAAATGAAAGAGCGC c.60
M S W S P S L T T Q T C G A W E M K E R p.20
. . . . | 03 . . g.22347
CTTGGGACAGGGGGATTTGGAAATGTCATCCGATGGCACAATCAG | GAAACAGGTGAGCAG c.120
L G T G G F G N V I R W H N Q | E T G E Q p.40
. . . . . . g.22407
ATTGCCATCAAGCAGTGCCGGCAGGAGCTCAGCCCCCGGAACCGAGAGCGGTGGTGCCTG c.180
I A I K Q C R Q E L S P R N R E R W C L p.60
. . | 04 . . . . g.23894
GAGATCCAGATCATGAGAAG | GCTGACCCACCCCAATGTGGTGGCTGCCCGAGATGTCCCT c.240
E I Q I M R R | L T H P N V V A A R D V P p.80
. . . . . . g.23954
GAGGGGATGCAGAACTTGGCGCCCAATGACCTGCCCCTGCTGGCCATGGAGTACTGCCAA c.300
E G M Q N L A P N D L P L L A M E Y C Q p.100
. | 05 . . . . g.27183
GGAGGAGATCTCCGGAAG | TACCTGAACCAGTTTGAGAACTGCTGTGGTCTGCGGGAAGGT c.360
G G D L R K | Y L N Q F E N C C G L R E G p.120
. . | 06 . . . g.38917
GCCATCCTCACCTTGCTGAGTGACATTG | CCTCTGCGCTTAGATACCTTCATGAAAACAGA c.420
A I L T L L S D I A | S A L R Y L H E N R p.140
. . . . . | 07. g.40044
ATCATCCATCGGGATCTAAAGCCAGAAAACATCGTCCTGCAGCAAGGAGAACAGAGG | TTA c.480
I I H R D L K P E N I V L Q Q G E Q R | L p.160
. . . . . . g.40104
ATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACA c.540
I H K I I D L G Y A K E L D Q G S L C T p.180
. . | 08. . . . g.42632
TCATTCGTGGGGACCCTGCAGTACCTG | GCCCCAGAGCTACTGGAGCAGCAGAAGTACACA c.600
S F V G T L Q Y L | A P E L L E Q Q K Y T p.200
. . . . . . g.42692
GTGACCGTCGACTACTGGAGCTTCGGCACCCTGGCCTTTGAGTGCATCACGGGCTTCCGG c.660
V T V D Y W S F G T L A F E C I T G F R p.220
. . . | 09 . . . g.48048
CCCTTCCTCCCCAACTGGCAGCCCGTGCAGTG | GCATTCAAAAGTGCGGCAGAAGAGTGAG c.720
P F L P N W Q P V Q W | H S K V R Q K S E p.240
. . . . . . g.48108
GTGGACATTGTTGTTAGCGAAGACTTGAATGGAACGGTGAAGTTTTCAAGCTCTTTACCC c.780
V D I V V S E D L N G T V K F S S S L P p.260
. . | 10 . . . . g.49948
TACCCCAATAATCTTAACAG | TGTCCTGGCTGAGCGACTGGAGAAGTGGCTGCAACTGATG c.840
Y P N N L N S | V L A E R L E K W L Q L M p.280
. . . . . . g.50008
CTGATGTGGCACCCCCGACAGAGGGGCACGGATCCCACGTATGGGCCCAATGGCTGCTTC c.900
L M W H P R Q R G T D P T Y G P N G C F p.300
. . . | 11 . . . g.50438
AAGGCCCTGGATGACATCTTAAACTTAAAG | CTGGTTCATATCTTGAACATGGTCACGGGC c.960
K A L D D I L N L K | L V H I L N M V T G p.320
. . . . . . g.50498
ACCATCCACACCTACCCTGTGACAGAGGATGAGAGTCTGCAGAGCTTGAAGGCCAGAATC c.1020
T I H T Y P V T E D E S L Q S L K A R I p.340
. . . . . . g.50558
CAACAGGACACGGGCATCCCAGAGGAGGACCAGGAGCTGCTGCAGGAAGCGGGCCTGGCG c.1080
Q Q D T G I P E E D Q E L L Q E A G L A p.360
. . . . | 12 . . g.51370
TTGATCCCCGATAAGCCTGCCACTCAGTGTATTTCAGACGGCAAG | TTAAATGAGGGCCAC c.1140
L I P D K P A T Q C I S D G K | L N E G H p.380
. . . . . . g.51430
ACATTGGACATGGATCTTGTTTTTCTCTTTGACAACAGTAAAATCACCTATGAGACTCAG c.1200
T L D M D L V F L F D N S K I T Y E T Q p.400
. . . . | 13 . . g.52270
ATCTCCCCACGGCCCCAACCTGAAAGTGTCAGCTGTATCC | TTCAAGAGCCCAAGAGGAAT c.1260
I S P R P Q P E S V S C I L | Q E P K R N p.420
. . . . . . g.52330
CTCGCCTTCTTCCAGCTGAGGAAGGTGTGGGGCCAGGTCTGGCACAGCATCCAGACCCTG c.1320
L A F F Q L R K V W G Q V W H S I Q T L p.440
. . . . | 14 . . g.52984
AAGGAAGATTGCAACCGGCTGCAGCAGGGACAGCGAGCCGCCAT | GATGAATCTCCTCCGA c.1380
K E D C N R L Q Q G Q R A A M | M N L L R p.460
. . . . . . g.53044
AACAACAGCTGCCTCTCCAAAATGAAGAATTCCATGGCTTCCATGTCTCAGCAGCTCAAG c.1440
N N S C L S K M K N S M A S M S Q Q L K p.480
. . . . . . g.53104
GCCAAGTTGGATTTCTTCAAAACCAGCATCCAGATTGACCTGGAGAAGTACAGCGAGCAA c.1500
A K L D F F K T S I Q I D L E K Y S E Q p.500
. | 15 . . . . . g.53327
ACCGAGTTTGGGATCA | CATCAGATAAACTGCTGCTGGCCTGGAGGGAAATGGAGCAGGCT c.1560
T E F G I T | S D K L L L A W R E M E Q A p.520
. | 16 . . . . g.54475
GTGGAGCTCTGTGGGCGG | GAGAACGAAGTGAAACTCCTGGTAGAACGGATGATGGCTCTG c.1620
V E L C G R | E N E V K L L V E R M M A L p.540
. . . . . . g.54535
CAGACCGACATTGTGGACTTACAGAGGAGCCCCATGGGCCGGAAGCAGGGGGGAACGCTG c.1680
Q T D I V D L Q R S P M G R K Q G G T L p.560
| 17 . . . . | 18 g.55754
GACGACCT | AGAGGAGCAAGCAAGGGAGCTGTACAGGAGACTAAGGGAAAAACCTCGAG | AC c.1740
D D L | E E Q A R E L Y R R L R E K P R D | p.580
. . . . . . g.55814
CAGCGAACTGAGGGTGACAGTCAGGAAATGGTACGGCTGCTGCTTCAGGCAATTCAGAGC c.1800
Q R T E G D S Q E M V R L L L Q A I Q S p.600
. . . | 19 . . g.56067
TTCGAGAAGAAAGTGCGAGTGATCTATACGCAGCTCAG | TAAAACTGTGGTTTGCAAGCAG c.1860
F E K K V R V I Y T Q L S | K T V V C K Q p.620
. . . . . . g.56127
AAGGCGCTGGAACTGTTGCCCAAGGTGGAAGAGGTGGTGAGCTTAATGAATGAGGATGAG c.1920
K A L E L L P K V E E V V S L M N E D E p.640
. . . . . . g.56187
AAGACTGTTGTCCGGCTGCAGGAGAAGCGGCAGAAGGAGCTCTGGAATCTCCTGAAGATT c.1980
K T V V R L Q E K R Q K E L W N L L K I p.660
| 20 . . . . . . g.59722
GCTTGT | AGCAAGGTCCGTGGTCCTGTCAGTGGAAGCCCGGATAGCATGAATGCCTCTCGA c.2040
A C | S K V R G P V S G S P D S M N A S R p.680
. . . . . . g.59782
CTTAGCCAGCCTGGGCAGCTGATGTCTCAGCCCTCCACGGCCTCCAACAGCTTACCTGAG c.2100
L S Q P G Q L M S Q P S T A S N S L P E p.700
. | 21 . . . . . g.62868
CCAGCCAAGAAGAG | TGAAGAACTGGTGGCTGAAGCACATAACCTCTGCACCCTGCTAGAA c.2160
P A K K S | E E L V A E A H N L C T L L E p.720
. . . . | 22 . . g.64627
AATGCCATACAGGACACTGTGAGGGAACAAGACCAGAGTTTCACG | GCCCTAGACTGGAGC c.2220
N A I Q D T V R E Q D Q S F T | A L D W S p.740
. . . . . g.64678
TGGTTACAGACGGAAGAAGAAGAGCACAGCTGCCTGGAGCAGGCCTCATGA c.2271
W L Q T E E E E H S C L E Q A S X p.756
. . . . . . g.64738
tgtggggggactcgaccccctgacatggggcagcccatagcaggccttgtgcagtggggg c.*60
. . . . . . g.64798
gactcgaccccctgacatggggctgcctggagcaggccgcgtgacgtggggctgcctggc c.*120
. . . . . . g.64858
cgcggctctcacatggtggttcctgctgcactgatggcccaggggtctctggtatccaga c.*180
. . . . . . g.64918
tggagctctcgcttcctcagcagctgtgactttcacccaggacccaggacgcagccctcc c.*240
. . . . . . g.64978
gtgggcactgccggcgccttgtctgcacactggaggtcctccattacagaggcccagcgc c.*300
. . . . . . g.65038
acatcgctggccccacaaacgttcaggggtacagccatggcagctccttcctctgccgtg c.*360
. . . . . . g.65098
agaaaagtgcttggagtacggtttgccacacacgtgactggacagtgtccaattcaaatc c.*420
. . . . . . g.65158
tttcagggcagagtccgagcagcgcttggtgacagcctgtcctctcctgctctccaaagg c.*480
. . . . . . g.65218
ccctgctccctgtcctctctcactttacagcttgtgtttcttctggattcagcttctcct c.*540
. . . . . . g.65278
aaacagacagtttaattatagttgcggcctggccccatcctcacttcctctttttatttc c.*600
. . . . . . g.65338
actgctgctaaaattgtgtttttacctactactttggtggttgtcctcttttcggcaaag c.*660
. . . . . . g.65398
ttggagcgagtgccaagctctccatctgtggtcctttctgccaagagcgactcatagtaa c.*720
. . . . . . g.65458
ccaggatgggagagcagctgccttattctgaatcccaaaaattacttgggggtgattgtc c.*780
. . . . . . g.65518
acagaggagggacagaaagggtatctgctgaccaccagcctgcctacccatgcccatgtc c.*840
. . . . . . g.65578
tccattcctgctcaagcgtgtgtgctgggccggggagtccctgtctctcacagcatctag c.*900
. . . . . . g.65638
cagtattattaaatggattcattttaaaaatagctcctatattttgtaacatgtctcaaa c.*960
. . . . . . g.65698
cactcatactgggttccacaatccactgttagaatacctatggttagggcttctgaacta c.*1020
. . . . . . g.65758
aaataatggaaaattttaacaatttgtatagtgcctggatcattactagtgccataaccc c.*1080
. . . . . . g.65818
tgcttcttcaacatttcacagaacttctcttttatataaaggcaagagcacaaaatgagt c.*1140
. . . . . . g.65878
tcagatgatcacaaacaggtgagttttgttggagaagaaagttggagtaggagactttca c.*1200
. . . . . . g.65938
caagtggtttccatggagatagaatgaagcattctgtggtcaagtaagtttagggagcta c.*1260
. . . . . . g.65998
ttcatgtttcacttgctttgtggagattcacactatgcactgggaaagtatctgaaaagt c.*1320
. . . . . . g.66058
cttataataaagaaacaggcttaactttgtgtaagaacactgtttatcaatgtcatttgg c.*1380
. . . . . . g.66118
ctatagaaacattttctcctgctgattgtgtgtgtgaaacatgtattaacattccaatga c.*1440
. . . . . . g.66178
actagcatttaataaagcacaattttggaaaccctggtaaatgacagtgggaaataacac c.*1500
. . . . . . g.66238
ccgaaaggcaaggacgggcagattggggagggaaaggatgttgggctaagggctgtgagc c.*1560
. . . . . . g.66298
ttatgttacaggcaactgagccactgaagaattttgacgaagaaaatgccaaccaaagca c.*1620
. . . . . g.66352
gtcattttaaaagtttatggctgttcagttacaggacaagttgtgaaaagaaag c.*1674
(downstream sequence)
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