(used for variant description)
(last modified April 24, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_004523.3 in the KIF11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering KIF11 transcript NM_004523.3.
(upstream sequence)
g.5008
agcgcagc c.-301
. . . . . . g.5068
cattggtccggctactctgtctctttttcaaattgaggcgccgagtcgttgcttagtttc c.-241
. . . . . . g.5128
tggggattcgggcggagacgagattagtgatttggcggctccgactggcgcgggacaaac c.-181
. . . . . . g.5188
gccacggccagagtaccgggtagagagcggggacgccgacctgcgtgcgtcggtcctcca c.-121
. . . . . . g.5248
ggccacgccagcgcccgagagggaccagggagactccggcccctgtcggccgccaagccc c.-61
. . . . . . g.5308
ctccgcccctcacagcgcccaggtccgcggccgggccttgattttttggcggggaccgtc c.-1
. . . . . . g.5368
ATGGCGTCGCAGCCAAATTCGTCTGCGAAGAAGAAAGAGGAGAAGGGGAAGAACATCCAG c.60
M A S Q P N S S A K K K E E K G K N I Q p.20
. | 02. . . . . g.18240
GTGGTGGTGAGATGCAG | ACCATTTAATTTGGCAGAGCGGAAAGCTAGCGCCCATTCAATA c.120
V V V R C R | P F N L A E R K A S A H S I p.40
. . . . . . g.18300
GTAGAATGTGATCCTGTACGAAAAGAAGTTAGTGTACGAACTGGAGGATTGGCTGACAAG c.180
V E C D P V R K E V S V R T G G L A D K p.60
. . . | 03 . . . g.18581
AGCTCAAGGAAAACATACACTTTTGATATG | GTGTTTGGAGCATCTACTAAACAGATTGAT c.240
S S R K T Y T F D M | V F G A S T K Q I D p.80
. . . . . . g.18641
GTTTACCGAAGTGTTGTTTGTCCAATTCTGGATGAAGTTATTATGGGCTATAATTGCACT c.300
V Y R S V V C P I L D E V I M G Y N C T p.100
| 04 . . . . . g.19143
ATCTTTGC | GTATGGCCAAACTGGCACTGGAAAAACTTTTACAATGGAAGGTGAAAGGTCA c.360
I F A | Y G Q T G T G K T F T M E G E R S p.120
. . | 05. . . . g.20985
CCTAATGAAGAGTATACCTGGGAAGAG | GATCCCTTGGCTGGTATAATTCCACGTACCCTT c.420
P N E E Y T W E E | D P L A G I I P R T L p.140
. . . . . . g.21045
CATCAAATTTTTGAGAAACTTACTGATAATGGTACTGAATTTTCAGTCAAAGTGTCTCTG c.480
H Q I F E K L T D N G T E F S V K V S L p.160
. . . . . . g.21105
TTGGAGATCTATAATGAAGAGCTTTTTGATCTTCTTAATCCATCATCTGATGTTTCTGAG c.540
L E I Y N E E L F D L L N P S S D V S E p.180
. . . | 06 . . . g.21344
AGACTACAGATGTTTGATGATCCCCGTAACAAG | AGAGGAGTGATAATTAAAGGTTTAGAA c.600
R L Q M F D D P R N K | R G V I I K G L E p.200
. . . . . . g.21404
GAAATTACAGTACACAACAAGGATGAAGTCTATCAAATTTTAGAAAAGGGGGCAGCAAAA c.660
E I T V H N K D E V Y Q I L E K G A A K p.220
. . . | 07 . . g.24994
AGGACAACTGCAGCTACTCTGATGAATGCATACTCTAG | TCGTTCCCACTCAGTTTTCTCT c.720
R T T A A T L M N A Y S S | R S H S V F S p.240
. . . . . . g.25054
GTTACAATACATATGAAAGAAACTACGATTGATGGAGAAGAGCTTGTTAAAATCGGAAAG c.780
V T I H M K E T T I D G E E L V K I G K p.260
| 08 . . . . . g.25360
TTGAACTTG | GTTGATCTTGCAGGAAGTGAAAACATTGGCCGTTCTGGAGCTGTTGATAAG c.840
L N L | V D L A G S E N I G R S G A V D K p.280
. . . . . . g.25420
AGAGCTCGGGAAGCTGGAAATATAAATCAATCCCTGTTGACTTTGGGAAGGGTCATTACT c.900
R A R E A G N I N Q S L L T L G R V I T p.300
. . . . . . g.25480
GCCCTTGTAGAAAGAACACCTCATGTTCCTTATCGAGAATCTAAACTAACTAGAATCCTC c.960
A L V E R T P H V P Y R E S K L T R I L p.320
. . . . . . g.25540
CAGGATTCTCTTGGAGGGCGTACAAGAACATCTATAATTGCAACAATTTCTCCTGCATCT c.1020
Q D S L G G R T R T S I I A T I S P A S p.340
. | 09 . . . . . g.28717
CTCAATCTTGAG | GAAACTCTGAGTACATTGGAATATGCTCATAGAGCAAAGAACATATTG c.1080
L N L E | E T L S T L E Y A H R A K N I L p.360
. . . . | 10 . g.33329
AATAAGCCTGAAGTGAATCAGAAACTCACCAAAAAAGCTCTTATTAAG | GAGTATACGGAG c.1140
N K P E V N Q K L T K K A L I K | E Y T E p.380
. . . . . . g.33389
GAGATAGAACGTTTAAAACGAGATCTTGCTGCAGCCCGTGAGAAAAATGGAGTGTATATT c.1200
E I E R L K R D L A A A R E K N G V Y I p.400
. | 11. . . . . g.40783
TCTGAAGAAAATTTTAG | AGTCATGAGTGGAAAATTAACTGTTCAAGAAGAGCAGATTGTA c.1260
S E E N F R | V M S G K L T V Q E E Q I V p.420
. . . . | 12 . . g.42123
GAATTGATTGAAAAAATTGGTGCTGTTGAGGAGGAGCTGAATAGG | GTTACAGAGTTGTTT c.1320
E L I E K I G A V E E E L N R | V T E L F p.440
. . . . . . g.42183
ATGGATAATAAAAATGAACTTGACCAGTGTAAATCTGACCTGCAAAATAAAACACAAGAA c.1380
M D N K N E L D Q C K S D L Q N K T Q E p.460
. . . . . . g.42243
CTTGAAACCACTCAAAAACATTTGCAAGAAACTAAATTACAACTTGTTAAAGAAGAATAT c.1440
L E T T Q K H L Q E T K L Q L V K E E Y p.480
. . . . . | 13 . g.44424
ATCACATCAGCTTTGGAAAGTACTGAGGAGAAACTTCATGATGCTGCCAGCAAG | CTGCTT c.1500
I T S A L E S T E E K L H D A A S K | L L p.500
. . . . . . g.44484
AACACAGTTGAAGAAACTACAAAAGATGTATCTGGTCTCCATTCCAAACTGGATCGTAAG c.1560
N T V E E T T K D V S G L H S K L D R K p.520
. . . . . . g.44544
AAGGCAGTTGACCAACACAATGCAGAAGCTCAGGATATTTTTGGCAAAAACCTGAATAGT c.1620
K A V D Q H N A E A Q D I F G K N L N S p.540
. . . . . . g.44604
CTGTTTAATAATATGGAAGAATTAATTAAGGATGGCAGCTCAAAGCAAAAGGCCATGCTA c.1680
L F N N M E E L I K D G S S K Q K A M L p.560
. . | 14 . . . . g.45593
GAAGTACATAAGACCTTATTTG | GTAATCTGCTGTCTTCCAGTGTCTCTGCATTAGATACC c.1740
E V H K T L F G | N L L S S S V S A L D T p.580
. . . . . . g.45653
ATTACTACAGTAGCACTTGGATCTCTCACATCTATTCCAGAAAATGTGTCTACTCATGTT c.1800
I T T V A L G S L T S I P E N V S T H V p.600
. . . . . . g.45713
TCTCAGATTTTTAATATGATACTAAAAGAACAATCATTAGCAGCAGAAAGTAAAACTGTA c.1860
S Q I F N M I L K E Q S L A A E S K T V p.620
. | 15 . . . . . g.49161
CTACAGGAATTGATT | AATGTACTCAAGACTGATCTTCTAAGTTCACTGGAAATGATTTTA c.1920
L Q E L I | N V L K T D L L S S L E M I L p.640
. . . . . . g.49221
TCCCCAACTGTGGTGTCTATACTGAAAATCAATAGTCAACTAAAGCATATTTTCAAGACT c.1980
S P T V V S I L K I N S Q L K H I F K T p.660
. . | 16 . . . . g.49358
TCATTGACAGTGGCCGATAAG | ATAGAAGATCAAAAAAAGGAACTAGATGGCTTTCTCAGT c.2040
S L T V A D K | I E D Q K K E L D G F L S p.680
. . . . . . g.49418
ATACTGTGTAACAATCTACATGAACTACAAGAAAATACCATTTGTTCCTTGGTTGAGTCA c.2100
I L C N N L H E L Q E N T I C S L V E S p.700
. . . . . . g.49478
CAAAAGCAATGTGGAAACCTAACTGAAGACCTGAAGACAATAAAGCAGACCCATTCCCAG c.2160
Q K Q C G N L T E D L K T I K Q T H S Q p.720
| 17 . . . . . . g.51786
| GAACTTTGCAAGTTAATGAATCTTTGGACAGAGAGATTCTGTGCTTTGGAGGAAAAGTGT c.2220
| E L C K L M N L W T E R F C A L E E K C p.740
. . . . | 18. . g.57308
GAAAATATACAGAAACCACTTAGTAGTGTCCAGGAAAATATACAGCA | GAAATCTAAGGAT c.2280
E N I Q K P L S S V Q E N I Q Q | K S K D p.760
. . . . . . g.57368
ATAGTCAACAAAATGACTTTTCACAGTCAAAAATTTTGTGCTGATTCTGATGGCTTCTCA c.2340
I V N K M T F H S Q K F C A D S D G F S p.780
. . . . . . g.57428
CAGGAACTCAGAAATTTTAACCAAGAAGGTACAAAATTGGTTGAAGAATCTGTGAAACAC c.2400
Q E L R N F N Q E G T K L V E E S V K H p.800
. . . . . . g.57488
TCTGATAAACTCAATGGCAACCTGGAAAAAATATCTCAAGAGACTGAACAGAGATGTGAA c.2460
S D K L N G N L E K I S Q E T E Q R C E p.820
. . . . . . g.57548
TCTCTGAACACAAGAACAGTTTATTTTTCTGAACAGTGGGTATCTTCCTTAAATGAAAGG c.2520
S L N T R T V Y F S E Q W V S S L N E R p.840
. . | 19. . . . g.60177
GAACAGGAACTTCACAACTTATTGGAG | GTTGTAAGCCAATGTTGTGAGGCTTCAAGTTCA c.2580
E Q E L H N L L E | V V S Q C C E A S S S p.860
. . . . . . g.60237
GACATCACTGAGAAATCAGATGGACGTAAGGCAGCTCATGAGAAACAGCATAACATTTTT c.2640
D I T E K S D G R K A A H E K Q H N I F p.880
. . . . . . g.60297
CTTGATCAGATGACTATTGATGAAGATAAATTGATAGCACAAAATCTAGAACTTAATGAA c.2700
L D Q M T I D E D K L I A Q N L E L N E p.900
. . . . . . g.60357
ACCATAAAAATTGGTTTGACTAAGCTTAATTGCTTTCTGGAACAGGATCTGAAACTGGAT c.2760
T I K I G L T K L N C F L E Q D L K L D p.920
. | 20 . . . . . g.61817
ATCCCAACAG | GTACGACACCACAGAGGAAAAGTTATTTATACCCATCAACACTGGTAAGA c.2820
I P T G | T T P Q R K S Y L Y P S T L V R p.940
. . . . . . g.61877
ACTGAACCACGTGAACATCTCCTTGATCAGCTGAAAAGGAAACAGCCTGAGCTGTTAATG c.2880
T E P R E H L L D Q L K R K Q P E L L M p.960
. . . . | 21 . . g.62351
ATGCTAAACTGTTCAGAAAACAACAAAGAAGAGACAATTCCG | GATGTGGATGTAGAAGAG c.2940
M L N C S E N N K E E T I P | D V D V E E p.980
. . . . . . g.62411
GCAGTTCTGGGGCAGTATACTGAAGAACCTCTAAGTCAAGAGCCATCTGTAGATGCTGGT c.3000
A V L G Q Y T E E P L S Q E P S V D A G p.1000
. . . | 22 . . g.65618
GTGGATTGTTCATCAATTGGCGGGGTTCCATTTTTCCAG | CATAAAAAATCACATGGAAAA c.3060
V D C S S I G G V P F F Q | H K K S H G K p.1020
. . . . . . g.65678
GACAAAGAAAACAGAGGCATTAACACACTGGAGAGGTCTAAAGTGGAAGAAACTACAGAG c.3120
D K E N R G I N T L E R S K V E E T T E p.1040
. . . . . g.65729
CACTTGGTTACAAAGAGCAGATTACCTCTGCGAGCCCAGATCAACCTTTAA c.3171
H L V T K S R L P L R A Q I N L X p.1056
. . . . . . g.65789
ttcacttgggggttggcaattttatttttaaagaaaacttaaaaataaaacctgaaaccc c.*60
. . . . . . g.65849
cagaacttgagccttgtgtatagattttaaaagaatatatatatcagccgggcgcggtgg c.*120
. . . . . . g.65909
ctcatgcctgtaatcccagcactttgggaggctgaggcgggtggattgcttgagcccagg c.*180
. . . . . . g.65969
agtttgagaccagcctggccaacgtggcaaaacctcgtctctgttaaaaattagccgggc c.*240
. . . . . . g.66029
gtggtggcacactcctgtaatcccagctactggggaggctgaggcacgagaatcacttga c.*300
. . . . . . g.66089
acccaggaagcggggttgcagtgagccaaaggtacaccactacactccagcctgggcaac c.*360
. . . . . . g.66149
agagcaagactcggtctcaaaaacaaaatttaaaaaagatataaggcagtactgtaaatt c.*420
. . . . . . g.66209
cagttgaattttgatatctacccatttttctgtcatccctatagttcactttgtattaaa c.*480
. . . . . . g.66269
ttgggtttcatttgggatttgcaatgtaaatacgtatttctagttttcatataaagtagt c.*540
. . . . . . g.66329
tcttttataacaaatgaaaagtatttttcttgtatattattaagtaatgaatatataaga c.*600
. . . . . . g.66389
actgtactcttctcagcttgagcttacataggtaaatatcaccaacatctgtccttagaa c.*660
. . . . . . g.66449
aggaccatctcatgttttttttcttgctatgacttgtgtattttcttgcatcctccctag c.*720
. . . . . . g.66509
acttccctatttcgctttctcctcggctcactttctccctttttatttttcaccaaacca c.*780
. . . . . . g.66569
tttgtagagctacaaaaggtatcctttcttattttcagtagtcagaattttatctagaaa c.*840
. . . . . . g.66629
tcttttaacacctttttagtggttatttctaaaatcactgtcaacaataaatctaaccct c.*900
. . . . . . g.66689
agttgtatccctcctttcagtatttttcacttgttgccccaaatgtgaaagcatttcatt c.*960
. . . . . . g.66749
cctttaagaggcctaactcattcaccctgacagagttcacaaaaagcccacttaagagta c.*1020
. . . . . . g.66809
tacattgctattatgggagaccacccagacatctgactaatggctctgtgcccacactcc c.*1080
. . . . . . g.66869
aagacctgtgccttttagagaagctcacaatgatttaaggactgtttgaaacttccaatt c.*1140
. . . . . . g.66929
atgtctataatttatattcttttgtttacatgatgaaactttttgttgttgcttgtttgt c.*1200
. . . . . . g.66989
atataatacaatgtgtacatgtatctttttctcgattcaaatcttaacccttaggactct c.*1260
. . . . . . g.67049
ggtatttttgatctggcaaccatatttctggaagttgagatgtttcagcttgaagaacca c.*1320
. . . . . . g.67109
aaacagaaggaatatgtacaaagaataaattttctgctcacgatgagtttagtgtgtaaa c.*1380
. . . . . . g.67169
gtttagagacatctgactttgatagctaaattaaaccaaaccctattgaagaattgaata c.*1440
. . . . . . g.67229
tatgctacttcaagaaactaaattgatctcgtagaattatcttaataaaataatggctat c.*1500
. . . . . . g.67289
aatttctctgcaaaatcagatgtcagcataagcgatggataatacctaataaactgccct c.*1560
. . . g.67328
cagtaaatccatggttaataaatgtggtttctacattaa c.*1599
(downstream sequence)
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