(used for variant description)
(last modified November 20, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_003998.3 in the NFKB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering NFKB1 transcript NM_003998.3.
(upstream sequence)
. . . . g.5047
gtgagagagtgagcgagacagaaagagagagaagtgcaccagcgagc c.-421
. . . . . . g.5107
cggggcaggaagaggaggtttcgccaccggagcggcccggcgacgcgctgacagcttccc c.-361
. . . . . . g.5167
ctgcccttcccgtcggtcgggccgccagccgccgcagccctcggcctgcacgcagccacc c.-301
. . . . . . g.5227
ggccccgctcccggagcccagcgccgccgaggccgcagccgcccggccagtaaggcggcg c.-241
. . . . . . g.5287
ccgccgcccggccaccgcgcgccctgcgcttccctccgcccgcgctgcggccatggcgcg c.-181
. . . . . . g.5347
gcgctgactggcctggcccggccccgccgcgctcccgctcgccccgacccgcactcgggc c.-121
. . . . . . g.5407
ccgcccgggctccggcctgccgccgcctcttccttctccagccggcaggcccgcgccgct c.-61
. . . . . . | 02 g.29190
taggagggagagcccacccgcgccaggaggccgaacgcggactcgccacccgg | cttcaga c.-1
. . . | 03 . . g.33528
ATGGCAGAAGATGATCCATATTTGGGAAGGCCTGAACAA | ATGTTTCATTTGGATCCTTCT c.60
M A E D D P Y L G R P E Q | M F H L D P S p.20
. . . . . | 04 g.37518
TTGACTCATACAATATTTAATCCAGAAGTATTTCAACCACAGATGGCACTGCCAACAG | CA c.120
L T H T I F N P E V F Q P Q M A L P T A | p.40
. . . | 05 . . g.41550
GATGGCCCATACCTTCAAATATTAGAGCAACCTAAACAG | AGAGGATTTCGTTTCCGTTAT c.180
D G P Y L Q I L E Q P K Q | R G F R F R Y p.60
. . . . . . g.41610
GTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAG c.240
V C E G P S H G G L P G A S S E K N K K p.80
. | 06 . . . . g.70700
TCTTACCCTCAGGTCAAA | ATCTGCAACTATGTGGGACCAGCAAAGGTTATTGTTCAGTTG c.300
S Y P Q V K | I C N Y V G P A K V I V Q L p.100
. . . . . . g.70760
GTCACAAATGGAAAAAATATCCACCTGCATGCCCACAGCCTGGTGGGAAAACACTGTGAG c.360
V T N G K N I H L H A H S L V G K H C E p.120
. . . . | 07. . g.80560
GATGGGATCTGCACTGTAACTGCTGGACCCAAGGACATGGTGGTCGG | CTTCGCAAACCTG c.420
D G I C T V T A G P K D M V V G | F A N L p.140
. . . . . . g.80620
GGTATACTTCATGTGACAAAGAAAAAAGTATTTGAAACACTGGAAGCACGAATGACAGAG c.480
G I L H V T K K K V F E T L E A R M T E p.160
. . . . . . g.80680
GCGTGTATAAGGGGCTATAATCCTGGACTCTTGGTGCACCCTGACCTTGCCTATTTGCAA c.540
A C I R G Y N P G L L V H P D L A Y L Q p.180
. . . | 08 . . . g.82581
GCAGAAGGTGGAGGGGACCGGCAGCTGGGAG | ATCGGGAAAAAGAGCTAATCCGCCAAGCA c.600
A E G G G D R Q L G D | R E K E L I R Q A p.200
. . . . . . g.82641
GCTCTGCAGCAGACCAAGGAGATGGACCTCAGCGTGGTGCGGCTCATGTTTACAGCTTTT c.660
A L Q Q T K E M D L S V V R L M F T A F p.220
. . . . . . g.82701
CTTCCGGATAGCACTGGCAGCTTCACAAGGCGCCTGGAACCCGTGGTATCAGACGCCATC c.720
L P D S T G S F T R R L E P V V S D A I p.240
. | 09 . . . . . g.84256
TATGACAGTA | AAGCCCCCAATGCATCCAACTTGAAAATTGTAAGAATGGACAGGACAGCT c.780
Y D S K | A P N A S N L K I V R M D R T A p.260
. . . . . | 10 . g.86542
GGATGTGTGACTGGAGGGGAGGAAATTTATCTTCTTTGTGACAAAGTTCAGAAAG | ATGAC c.840
G C V T G G E E I Y L L C D K V Q K D | D p.280
. . . . . . g.86602
ATCCAGATTCGATTTTATGAAGAGGAAGAAAATGGTGGAGTCTGGGAAGGATTTGGAGAT c.900
I Q I R F Y E E E E N G G V W E G F G D p.300
. . | 11. . . . g.88386
TTTTCCCCCACAGATGTTCATAGACAA | TTTGCCATTGTCTTCAAAACTCCAAAGTATAAA c.960
F S P T D V H R Q | F A I V F K T P K Y K p.320
. . . . . . g.88446
GATATTAATATTACAAAACCAGCCTCTGTGTTTGTCCAGCTTCGGAGGAAATCTGACTTG c.1020
D I N I T K P A S V F V Q L R R K S D L p.340
. . . . | 12 . . g.97110
GAAACTAGTGAACCAAAACCTTTCCTCTACTATCCTGAAATCAAAG | ATAAAGAAGAAGTG c.1080
E T S E P K P F L Y Y P E I K D | K E E V p.360
. . . . . . g.97170
CAGAGGAAACGTCAGAAGCTCATGCCCAATTTTTCGGATAGTTTCGGCGGTGGTAGTGGT c.1140
Q R K R Q K L M P N F S D S F G G G S G p.380
. . . . . . g.97230
GCTGGAGCTGGAGGCGGAGGCATGTTTGGTAGTGGCGGTGGAGGAGGGGGCACTGGAAGT c.1200
A G A G G G G M F G S G G G G G G T G S p.400
. | 13 . . . . . g.98613
ACAGGTCCAG | GGTATAGCTTCCCACACTATGGATTTCCTACTTATGGTGGGATTACTTTC c.1260
T G P G | Y S F P H Y G F P T Y G G I T F p.420
. . . . | 14 . . g.99829
CATCCTGGAACTACTAAATCTAATGCTGGGATGAAGCATG | GAACCATGGACACTGAATCT c.1320
H P G T T K S N A G M K H G | T M D T E S p.440
. . . . . . g.99889
AAAAAGGACCCTGAAGGTTGTGACAAAAGTGATGACAAAAACACTGTAAACCTCTTTGGG c.1380
K K D P E G C D K S D D K N T V N L F G p.460
. . . . . . g.99949
AAAGTTATTGAAACCACAGAGCAAGATCAGGAGCCCAGCGAGGCCACCGTTGGGAATGGT c.1440
K V I E T T E Q D Q E P S E A T V G N G p.480
. . . . . | 15 . g.101196
GAGGTCACTCTAACGTATGCAACAGGAACAAAAGAAGAGAGTGCTGGAGTTCAGG | ATAAC c.1500
E V T L T Y A T G T K E E S A G V Q D | N p.500
. . . . . . g.101256
CTCTTTCTAGAGAAGGCTATGCAGCTTGCAAAGAGGCATGCCAATGCCCTTTTCGACTAC c.1560
L F L E K A M Q L A K R H A N A L F D Y p.520
. . . . . . g.101316
GCGGTGACAGGAGACGTGAAGATGCTGCTGGCCGTCCAGCGCCATCTCACTGCTGTGCAG c.1620
A V T G D V K M L L A V Q R H L T A V Q p.540
. | 16. . . . . g.104609
GATGAGAATGGGGACAG | TGTCTTACACTTAGCAATCATCCACCTTCATTCTCAACTTGTG c.1680
D E N G D S | V L H L A I I H L H S Q L V p.560
. . . . . . g.104669
AGGGATCTACTAGAAGTCACATCTGGTTTGATTTCTGATGACATTATCAACATGAGAAAT c.1740
R D L L E V T S G L I S D D I I N M R N p.580
. | 17 . . . . . g.110215
GATCTGTACCAG | ACGCCCTTGCACTTGGCAGTGATCACTAAGCAGGAAGATGTGGTGGAG c.1800
D L Y Q | T P L H L A V I T K Q E D V V E p.600
. . . . . . g.110275
GATTTGCTGAGGGCTGGGGCCGACCTGAGCCTTCTGGACCGCTTGGGTAACTCTGTTTTG c.1860
D L L R A G A D L S L L D R L G N S V L p.620
. . . . . . g.110335
CACCTAGCTGCCAAAGAAGGACATGATAAAGTTCTCAGTATCTTACTCAAGCACAAAAAG c.1920
H L A A K E G H D K V L S I L L K H K K p.640
. . . | 18 . . . g.110847
GCAGCACTACTTCTTGACCACCCCAACGGGGACG | GTCTGAATGCCATTCATCTAGCCATG c.1980
A A L L L D H P N G D G | L N A I H L A M p.660
. . . . . . g.110907
ATGAGCAATAGCCTGCCATGTTTGCTGCTGCTGGTGGCCGCTGGGGCTGACGTCAATGCT c.2040
M S N S L P C L L L L V A A G A D V N A p.680
. . . . . . g.110967
CAGGAGCAGAAGTCCGGGCGCACAGCACTGCACCTGGCTGTGGAGCACGACAACATCTCA c.2100
Q E Q K S G R T A L H L A V E H D N I S p.700
. . | 19 . . . . g.111356
TTGGCAGGCTGCCTGCTCCTGGAG | GGTGATGCCCATGTGGACAGTACTACCTACGATGGA c.2160
L A G C L L L E | G D A H V D S T T Y D G p.720
. . . . . . g.111416
ACCACACCCCTGCATATAGCAGCTGGGAGAGGGTCCACCAGGCTGGCAGCTCTTCTCAAA c.2220
T T P L H I A A G R G S T R L A A L L K p.740
| 20. . . . . . g.114299
GCAGCAG | GAGCAGATCCCCTGGTGGAGAACTTTGAGCCTCTCTATGACCTGGATGACTCT c.2280
A A G | A D P L V E N F E P L Y D L D D S p.760
. . . . . . g.114359
TGGGAAAATGCAGGAGAGGATGAAGGAGTTGTGCCTGGAACCACGCCTCTAGATATGGCC c.2340
W E N A G E D E G V V P G T T P L D M A p.780
. | 21 . . . . . g.115763
ACCAGCTGGCAG | GTATTTGACATATTAAATGGGAAACCATATGAGCCAGAGTTTACATCT c.2400
T S W Q | V F D I L N G K P Y E P E F T S p.800
. | 22 . . . . g.116146
GATGATTTACTAGCACAAG | GAGACATGAAACAGCTGGCTGAAGATGTGAAGCTGCAGCTG c.2460
D D L L A Q G | D M K Q L A E D V K L Q L p.820
. . . . . . g.116206
TATAAGTTACTAGAAATTCCTGATCCAGACAAAAACTGGGCTACTCTGGCGCAGAAATTA c.2520
Y K L L E I P D P D K N W A T L A Q K L p.840
. . . . . . g.116266
GGTCTGGGGATACTTAATAATGCCTTCCGGCTGAGTCCTGCTCCTTCCAAAACACTTATG c.2580
G L G I L N N A F R L S P A P S K T L M p.860
. | 23 . . . . . g.117144
GACAACTATGAG | GTCTCTGGGGGTACAGTCAGAGAGCTGGTGGAGGCCCTGAGACAAATG c.2640
D N Y E | V S G G T V R E L V E A L R Q M p.880
. . . . . . g.117204
GGCTACACCGAAGCAATTGAAGTGATCCAGGCAGCCTCCAGCCCAGTGAAGACCACCTCT c.2700
G Y T E A I E V I Q A A S S P V K T T S p.900
. . . . | 24 . g.120116
CAGGCCCACTCGCTGCCTCTCTCGCCTGCCTCCACAAGGCAGCAAATAG | ACGAGCTCCGA c.2760
Q A H S L P L S P A S T R Q Q I D | E L R p.920
. . . . . . g.120176
GACAGTGACAGTGTCTGCGACAGCGGCGTGGAGACATCCTTCCGCAAACTCAGCTTTACC c.2820
D S D S V C D S G V E T S F R K L S F T p.940
. . . . . . g.120236
GAGTCTCTGACCAGTGGTGCCTCACTGCTAACTCTCAACAAAATGCCCCATGATTATGGG c.2880
E S L T S G A S L L T L N K M P H D Y G p.960
. . . g.120266
CAGGAAGGACCTCTAGAAGGCAAAATTTAG c.2910
Q E G P L E G K I X p.969
. . . . . . g.120326
cctgctgacaatttcccacaccgtgtaaaccaaagccctaaaattccactgcgttgtcca c.*60
. . . . . . g.120386
caagacagaagctgaagtgcatccaaaggtgctcagagagccggcccgcctgaatcattc c.*120
. . . . . . g.120446
tcgatttaactcgagaccttttcaacttggcttcctttcttggttcataaatgaatttta c.*180
. . . . . . g.120506
gtttggttcacttacagatagtatctagcaatcacaacactggctgagcggatgcatctg c.*240
. . . . . . g.120566
gggatgaggttgcttactaagctttgccagctgctgctggatcacagctgctttctgttg c.*300
. . . . . . g.120626
tcattgctgttgtccctctgctacgttcctattgtcattaaaggtatcacggtcgccacc c.*360
. . . . . . g.120686
tggcattccttctgaccacagcatcattttgcattcaaattaagggttaagaaaagagat c.*420
. . . . . . g.120746
attttaaaatgagagtcacttgatgtgccattttaaaaaaaaaggcatattgctttttct c.*480
. . . . . . g.120806
aatgtggttatttctctgatttgcaaaaaaaaaaaaaaaaaaaatacttgtcaatattta c.*540
. . . . . . g.120866
aacatggttacaatcattgctgaaaatggtattttcccccttttctgcattttgctattg c.*600
. . . . . . g.120926
taaatatgttttttagatcaaatactttaaaggaaaaaatgttggatttataaatgctat c.*660
. . . . g.120974
tttttattttacttttataataaaaggaaaagcaaattgatgacctca c.*708
(downstream sequence)
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