(used for variant description)
(last modified April 15, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003640.3 in the IKBKAP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008788.1, covering IKBKAP transcript NM_003640.3.
(upstream sequence)
. . . . g.5040
acagtgctttggggttcgacatcaaaacagagatcaaata c.-481
. . . . . . g.5100
caaaagtttgggcagatgggcaagagggcagagggacaggggacgcggccaatgtagctc c.-421
. . . . . . g.5160
ctctacctctacggtgccaggcctacaaagaaggccggccgccgtaagtgaccagaagcg c.-361
. . . . . . g.5220
ggcccggcctcgccccctccgcctggtgacgtcactcccgcgccgcactcccagtgctgc c.-301
. . . . . . g.5280
ggctgcctagttgacgcacccattgagtcgctggcttctttgcagcgcttcagcgttttc c.-241
. . . . . . g.5340
ccctggagggcgcctccatccttggaggcctagtgccgtcggagagagagcgggagccgc c.-181
. . . . . . g.5400
ggacagagacgcgtgcgcaattcggagccgactctgggtgcggactgtgggagctgactc c.-121
. . . . . . g.5460
tgggtagccggctgcgcgtggctggggaggcgaggccggacgcacctctgtttgggggtc c.-61
. | 02 . . . . . g.8182
ctcag | agattaatgattcatcaagggatagttgtacttgtctcgtgggaatcacttcatc c.-1
. . . . . . g.8242
ATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAAT c.60
M R N L K L F R T L E F R D I Q G P G N p.20
. . . . . . g.8302
CCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCATTGGTTCAGAACATGGC c.120
P Q C F S L R T E Q G T V L I G S E H G p.40
. . . | 03 . . . g.9437
CTGATAGAAGTAGACCCTGTCTCAAGAGAA | GTGAAAAATGAAGTTTCTTTGGTGGCAGAA c.180
L I E V D P V S R E | V K N E V S L V A E p.60
. . . . . . g.9497
GGCTTTCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAG c.240
G F L P E D G S G R I V G V Q D L L D Q p.80
. . . . . . g.9557
GAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAA c.300
E S V C V A T A S G D V I L C S L S T Q p.100
| 04 . . . . . . g.11932
CAG | CTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGAC c.360
Q | L E C V G S V A S G I S V M S W S P D p.120
. . | 05 . . . . g.12760
CAAGAGCTGGTGCTTCTTGCCACAG | GTCAACAGACCCTGATTATGATGACAAAAGATTTT c.420
Q E L V L L A T G | Q Q T L I M M T K D F p.140
. . . . | 06 . . g.16415
GAGCCAATCCTGGAGCAGCAGATCCATCAGGATGATTTTGGTGAAA | GCAAGTTTATCACT c.480
E P I L E Q Q I H Q D D F G E S | K F I T p.160
. . . . . . g.16475
GTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTT c.540
V G W G R K E T Q F H G S E G R Q A A F p.180
. | 07 . . . . . g.20027
CAGATGCAAATG | CATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGG c.600
Q M Q M | H E S A L P W D D H R P Q V T W p.200
. . . . | 08 . g.20438
CGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCCCAGAAACAG | GGGCTCGGAAG c.660
R G D G Q F F A V S V V C P E T G | A R K p.220
. . . . . . g.20498
GTCAGAGTGTGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTG c.720
V R V W N R E F A L Q S T S E P V A G L p.240
. . | 09 . . . . g.21698
GGACCAGCCCTGGCTTGGAA | ACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCC c.780
G P A L A W K | P S G S L I A S T Q D K P p.260
. . . . . . g.21758
AACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTT c.840
N Q Q D I V F F E K N G L L H G H F T L p.280
. . | 10 . . . . g.23067
CCCTTCCTTAAAGATGAGGTTAAG | GTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTG c.900
P F L K D E V K | V N D L L W N A D S S V p.300
. . . . . | 11 g.26836
CTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTG | TT c.960
L A V W L E D L Q R E E S S I P K T C V | p.320
. . . . . . g.26896
CAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACC c.1020
Q L W T V G N Y H W Y L K Q S L S F S T p.340
. . . . . . g.26956
TGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCAT c.1080
C G K S K I V S L M W D P V T P Y R L H p.360
. . . . . . g.27016
GTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGC c.1140
V L C Q G W H Y L A Y D W H W T T D R S p.380
. . . . | 12 . g.28159
GTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAA | ACAGGGTGTTG c.1200
V G D N S S D L S N V A V I D G N | R V L p.400
. . . . . . g.28219
GTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGTGCACCTACCAACTGCTGTTC c.1260
V T V F R Q T V V P P P M C T Y Q L L F p.420
. . . . . . g.28279
CCACACCCTGTGAATCAAGTCACATTCTTAGCACACCCTCAAAAGAGTAATGACCTTGCT c.1320
P H P V N Q V T F L A H P Q K S N D L A p.440
. . . . | 13 . . g.30944
GTTCTAGATGCCAGTAACCAGATTTCTGTTTATAAATGTG | GTGATTGTCCAAGTGCTGAC c.1380
V L D A S N Q I S V Y K C G | D C P S A D p.460
. . . . . . g.31004
CCTACAGTGAAACTGGGAGCTGTGGGTGGAAGTGGATTTAAAGTTTGCCTTAGAACTCCT c.1440
P T V K L G A V G G S G F K V C L R T P p.480
. . | 14 . . . . g.32883
CATTTGGAAAAGAGATACAA | AATCCAGTTTGAGAATAATGAAGATCAAGATGTAAACCCG c.1500
H L E K R Y K | I Q F E N N E D Q D V N P p.500
. . . . . . g.32943
CTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGT c.1560
L K L G L L T W I E E D V F L A V S H S p.520
. . . . . . g.33003
GAGTTCAGCCCCCGGTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAA c.1620
E F S P R S V I H H L T A A S S E M D E p.540
. . | 15 . . . . g.35696
GAGCATGGACAGCTCAATGTCAG | TTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTA c.1680
E H G Q L N V S | S S A A V D G V I I S L p.560
. . . . . . g.35756
TGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAG c.1740
C C N S K T K S V V L Q L A D G Q I F K p.580
. | 16 . . . . . g.36436
TACCTTTGGG | AGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCT c.1800
Y L W E | S P S L A I K P W K N S G G F P p.600
. . . . . | 17 . g.37653
GTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAG | GAATGT c.1860
V R F P Y P C T Q T E L A M I G E E | E C p.620
. . . . | 18 . g.37810
GTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAG | GTTGCGTCAAAT c.1920
V L G L T D R C R F F I N D I E | V A S N p.640
. . . . . . g.37870
ATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGC c.1980
I T S F A V Y D E F L L L T T H S H T C p.660
. . . | 19 . . . g.38979
CAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAA | CATTACAGGCCGGCCTGAGCAGCAAT c.2040
Q C F C L R D A S F K T | L Q A G L S S N p.680
. . . . . . g.39039
CATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCACGGATTGTCACTGTT c.2100
H V S H G E V L R K V E R G S R I V T V p.700
. . . | 20 . . . g.39463
GTGCCCCAGGACACAAAGCTTGTATTACAG | ATGCCAAGGGGAAACTTAGAAGTTGTTCAT c.2160
V P Q D T K L V L Q | M P R G N L E V V H p.720
. . . . | 21 . . g.40595
CATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAA | ACTTATGTTTAAAGAG c.2220
H R A L V L A Q I R K W L D K | L M F K E p.740
. . . . . . g.40655
GCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCT c.2280
A F E C M R K L R I N L N L I Y D H N P p.760
| 22 . . . . . . g.40804
AAG | GTGTTTCTTGGAAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATT c.2340
K | V F L G N V E T F I K Q I D S V N H I p.780
. . | 23 . . . . g.42080
AACTTGTTTTTTACAGAATTGAA | AGAAGAAGATGTCACGAAGACCATGTACCCTGCACCA c.2400
N L F F T E L K | E E D V T K T M Y P A P p.800
. . . . . . g.42140
GTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGC c.2460
V T S S V Y L S R D P D G N K I D L V C p.820
. . . . | 24 . . g.42309
GATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAA | ATACTGCCTATCCATACTT c.2520
D A M R A V M E S I N P H K | Y C L S I L p.840
. . . . . . g.42369
ACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAG c.2580
T S H V K K T T P E L E I V L Q K V H E p.860
| 25. . . . . . g.42737
CTTCAAG | GAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATAT c.2640
L Q G | N A P S D P D A V S A E E A L K Y p.880
. . . . . . g.42797
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTT c.2700
L L H L V D V N E L Y D H S L G T Y D F p.900
. . . | 26 . . . g.45286
GATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAG | GATCCCAAAGAATATCTTCCATTT c.2760
D L V L M V A E K S Q K | D P K E Y L P F p.920
. . . . . . g.45346
CTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTG c.2820
L N T L K K M E T N Y Q R F T I D K Y L p.940
. . . . | 27 . . g.46265
AAACGATATGAAAAAGCCATTGGCCACCTCAGCAAATGTG | GACCTGAGTACTTCCCAGAA c.2880
K R Y E K A I G H L S K C G | P E Y F P E p.960
. . . . . . g.46325
TGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCA c.2940
C L N L I K D K N L Y N E A L K L Y S P p.980
. | 28 . . . . g.47966
AGCTCACAACAGTACCAG | GATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCAC c.3000
S S Q Q Y Q | D I S I A Y G E H L M Q E H p.1000
. . . . . . g.48026
ATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCA c.3060
M Y E P A G L M F A R C G A H E K A L S p.1020
. . . . . . g.48086
GCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTT c.3120
A F L T C G N W K Q A L C V A A Q L N F p.1040
. . . . | 29 . . g.49955
ACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAG | GAAAGCTGGTTGAGCAGAGG c.3180
T K D Q L V G L G R T L A G | K L V E Q R p.1060
. . . . | 30 . . g.57159
AAGCACATTGATGCGGCCATGGTTTTGGAAGAGTGTGCCCAG | GATTATGAAGAAGCTGTG c.3240
K H I D A A M V L E E C A Q | D Y E E A V p.1080
. . . . | 31 . . g.57578
CTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTG | GTATACAAATATAAC c.3300
L L L L E G A A W E E A L R L | V Y K Y N p.1100
. . . . | 32 . . g.59177
AGACTGGATATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAG | CCCAGAAAAATTAT c.3360
R L D I I E T N V K P S I L E A | Q K N Y p.1120
. . . . . . g.59237
ATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTA c.3420
M A F L D S Q T A T F S R H K K R L L V p.1140
. . . . | 33 . . g.59791
GTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGG | ATGATGAGGTACCCCACGGG c.3480
V R E L K E Q A Q Q A G L D | D E V P H G p.1160
. . . . . . g.59851
CAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGC c.3540
Q E S D L F S E T S S V V S G S E M S G p.1180
. . . | 34 . . . g.60606
AAATACTCCCATAGTAACTCCAGGATATCAGC | GAGATCATCCAAGAATCGCCGAAAAGCG c.3600
K Y S H S N S R I S A | R S S K N R R K A p.1200
. . . . . . g.60666
GAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCGCTGGAGGACCTGGCCCTCCTGGAG c.3660
E R K K H S L K E G S P L E D L A L L E p.1220
. . . . | 35 . . g.61199
GCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAG | ATGAAGTATACCATATTTTA c.3720
A L S E V V Q N T E N L K D | E V Y H I L p.1240
. . . . . . g.61259
AAGGTACTCTTTCTCTTTGAGTTTGATGAACAAGGAAGGGAATTACAGAAGGCCTTTGAA c.3780
K V L F L F E F D E Q G R E L Q K A F E p.1260
. . . . . . g.61319
GATACGCTGCAGTTGATGGAAAGGTCACTTCCAGAAATTTGGACTCTTACTTACCAGCAG c.3840
D T L Q L M E R S L P E I W T L T Y Q Q p.1280
. | 36 . . . . . g.64403
AATTCAGCTACCCCG | GTTCTAGGTCCCAATTCTACTGCAAATAGTATCATGGCATCTTAT c.3900
N S A T P | V L G P N S T A N S I M A S Y p.1300
. . . | 37 . . . g.70175
CAGCAACAGAAGACTTCGGTTCCTGTTCTTG | ATGCTGAGCTTTTTATACCACCAAAGATC c.3960
Q Q Q K T S V P V L D | A E L F I P P K I p.1320
. . . g.70214
AACAGAAGAACCCAGTGGAAGCTGAGCCTGCTAGACTGA c.3999
N R R T Q W K L S L L D X p.1332
. . . . . . g.70274
gtgactgcagttaggagggatccgacagagaagaccatttccactcattcctgttgtcct c.*60
. . . . . . g.70334
accaccccttgctctttgagggctggctattgagaactggaaagagtaaaatgataactt c.*120
. . . . . . g.70394
accttagcattgccaagaacttcagcagacaacaagcaattctatttattttatgttgtg c.*180
. . . . . . g.70454
tatacatcttgatcattagcaagacattaagctttaaccattatggcaccattttgtgag c.*240
. . . . . . g.70514
aatgattgttctttcacttgggctgtttgagagcataattatggtaatcatgagattaat c.*300
. . . . . . g.70574
gtttcatgatttctacctccaaagtgtgaagacaagtaaaacaatgtttctaaattgtct c.*360
. . . . . . g.70634
tattttgttggcggagaagattacaatggctattagtgctacatttggtcaaatgtaatc c.*420
. . . . . . g.70694
acttaaatagcttcttgtcaccttaaactaaagcagaataaaaagtatcctttgaaatta c.*480
. . . . . . g.70754
taagccctcctttgctgacagctattattttgtaacatcttaccaggtcatgtgctttca c.*540
. . . . . . g.70814
gttataactgggctgagcctcctataattacaatgtctatagggactgttttactgcctg c.*600
. . . . . . g.70874
tgtattttctgctagagagttagcaatgttagagctagaacagattagaatttctaaaca c.*660
. . . . . . g.70934
gtatcatgcacagttggtgtgagtgatcagtgtgcattgtatggcatgcatggttgtgaa c.*720
. . . . . . g.70994
ttattctctgttctccaaatactgtttctttaactcagatatttttgttagtgtctaggc c.*780
. . . . . . g.71054
cacttcatttatttttcgtcatggtactttactgacttctctttattcaattctccacgc c.*840
. . . . . . g.71114
cctcaccaaaaaaaactgtctcaaaatgagaatattttattttcatggtgagtctagaaa c.*900
. . . . . . g.71174
acgcccacttcattctgattaaaaattcttccatgttttaaatatcagaaccagaccttt c.*960
. . . . . . g.71234
cttactgtgtatcttagcccatttgtgtctctataacaacaaccagctttcaaaggaact c.*1020
. . . . . . g.71294
aatagagtgaaaactcactcattaccacgaggatggcacaagcgattcacgtaggatctg c.*1080
. . . . . . g.71354
cccctgtgaccaaaacacctcccattgggccccacttccaacactggtgatcacatttca c.*1140
. . . . . . g.71414
acatgaggtttagggaaacaaatgcctaaactacagcactgtacataaactaacaggaaa c.*1200
. . . . . . g.71474
tgctgcttttgatcctcaaagaagtgatatagccaaaattgtaatttaagaagcctttcc c.*1260
. . . . . . g.71534
cagtatagcaagatgttaactatagaatcaatctaggagtattcactgtaaaattcaact c.*1320
. . . . . . g.71594
tttctgtatgtttgaacattttcacaatctcataggagtttttaaaaagaagagaaagaa c.*1380
. . . . . . g.71654
gatatactttgctttggagaaatctactttttgacttacatgggtttgctgtaattaagt c.*1440
. . . . . . g.71714
gcccaatattgaaaggctgcaagtactttgtaatcactctttggcatgggtaaataagca c.*1500
. . . . . . g.71774
tggtaacttatattgaaatatagtgctcttgctttggataactgtaaagggacccatgct c.*1560
. . . g.71809
gatagactggaaatagaagtaaatgtgtttattga c.*1595
(downstream sequence)
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