(used for variant description)
(last modified October 30, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_007317.2 in the KIF22 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032055.1, covering KIF22 transcript NM_007317.2.
(upstream sequence)
. . . . g.5047
gcaccggggaattcgaatgggagaggcgggcccaaggagggagtgga c.-1
. . . . . . g.5107
ATGGCCGCGGGCGGCTCGACGCAGCAGAGGCGACGCGAGATGGCGGCAGCTTCAGCGGCG c.60
M A A G G S T Q Q R R R E M A A A S A A p.20
. | 02 . . . . . g.11230
GCGATCTCAG | GAGCTGGTCGCTGTCGGCTAAGCAAGATTGGAGCTACTCGTCGTCCACCT c.120
A I S G | A G R C R L S K I G A T R R P P p.40
. . . . . . g.11290
CCAGCTCGCGTAAGGGTGGCTGTGCGACTGCGGCCATTTGTGGATGGAACAGCGGGAGCA c.180
P A R V R V A V R L R P F V D G T A G A p.60
. . . . . . g.11350
AGTGATCCCCCCTGTGTGCGGGGCATGGACAGCTGCTCTCTAGAGATTGCTAACTGGAGG c.240
S D P P C V R G M D S C S L E I A N W R p.80
. . | 03 . . . . g.12695
AACCACCAGGAGACTCTCAAATACCA | GTTTGATGCCTTCTATGGGGAGAGGAGTACTCAG c.300
N H Q E T L K Y Q | F D A F Y G E R S T Q p.100
. . . . . . g.12755
CAGGACATCTATGCAGGTTCAGTGCAGCCCATCCTAAGGCACTTGCTGGAAGGGCAGAAT c.360
Q D I Y A G S V Q P I L R H L L E G Q N p.120
. . . | 04 . . . g.12906
GCCAGTGTGCTTGCCTATGGACCCACAGGAGCTG | GGAAGACGCACACAATGCTGGGCAGC c.420
A S V L A Y G P T G A G | K T H T M L G S p.140
. . . . . . g.12966
CCAGAGCAACCTGGGGTGATCCCGCGGGCTCTCATGGACCTCCTGCAGCTCACAAGGGAG c.480
P E Q P G V I P R A L M D L L Q L T R E p.160
. . . . . . g.13026
GAGGGTGCCGAGGGCCGGCCATGGGCCCTTTCTGTCACCATGTCTTACCTAGAGATCTAC c.540
E G A E G R P W A L S V T M S Y L E I Y p.180
| 05 . . . . . g.13313
CAGGAGAAG | GTATTAGACCTCCTGGACCCTGCTTCGGGAGACCTGGTAATCCGAGAAGAC c.600
Q E K | V L D L L D P A S G D L V I R E D p.200
. . . . . . g.13373
TGCCGGGGGAATATCCTGATTCCGGGTCTCTCCCAGAAGCCCATCAGTAGCTTTGCTGAT c.660
C R G N I L I P G L S Q K P I S S F A D p.220
. . . . . . g.13433
TTTGAGCGGCACTTCCTGCCAGCCAGTCGAAATCGGACTGTAGGAGCCACCCGGCTCAAC c.720
F E R H F L P A S R N R T V G A T R L N p.240
. . . | 06 . . g.13572
CAGCGCTCCTCCCGCAGTCATGCTGTGCTCCTGGTCAAG | GTGGACCAGCGGGAACGTTTG c.780
Q R S S R S H A V L L V K | V D Q R E R L p.260
. . . . . . g.13632
GCCCCATTTCGCCAGCGAGAGGGAAAACTCTACCTGATTGACTTGGCTGGGTCAGAGGAC c.840
A P F R Q R E G K L Y L I D L A G S E D p.280
. . . . . . g.13692
AACCGGCGCACAGGCAACAAGGGCCTTCGGCTAAAAGAGAGTGGAGCCATCAACACCTCC c.900
N R R T G N K G L R L K E S G A I N T S p.300
. . . . . . g.13752
CTGTTTGTCCTGGGCAAAGTGGTAGATGCGCTGAATCAGGGCCTCCCTCGTGTACCTTAT c.960
L F V L G K V V D A L N Q G L P R V P Y p.320
. . . | 07 . . . g.13945
CGGGACAGCAAGCTCACTCGCCTATTGCAG | GACTCTCTGGGTGGCTCAGCCCACAGTATC c.1020
R D S K L T R L L Q | D S L G G S A H S I p.340
. . . . . . g.14005
CTTATTGCCAACATTGCCCCTGAGAGACGCTTCTACCTAGACACAGTCTCCGCACTCAAC c.1080
L I A N I A P E R R F Y L D T V S A L N p.360
. . . . . . g.14065
TTTGCTGCCAGGTCCAAGGAGGTGATCAATCGGCCTTTTACCAATGAGAGCCTGCAGCCT c.1140
F A A R S K E V I N R P F T N E S L Q P p.380
| 08 . . . . . . g.14256
CATG | CCTTGGGACCTGTTAAGCTGTCTCAGAAAGAATTGCTTGGTCCACCAGAGGCAAAG c.1200
H A | L G P V K L S Q K E L L G P P E A K p.400
. . . . . . g.14316
AGAGCCCGAGGCCCTGAGGAAGAGGAGATCGGGAGCCCTGAGCCCATGGCAGCTCCAGCC c.1260
R A R G P E E E E I G S P E P M A A P A p.420
. . | 09 . . . . g.17096
TCTGCCTCCCAGAAACTCAG | CCCCCTACAGAAGCTAAGCAGCATGGACCCGGCCATGCTG c.1320
S A S Q K L S | P L Q K L S S M D P A M L p.440
. . . . . . g.17156
GAGCGCCTCCTCAGCTTGGACCGTCTGCTTGCCTCCCAGGGGAGCCAGGGGGCCCCTCTG c.1380
E R L L S L D R L L A S Q G S Q G A P L p.460
. . . . . . g.17216
TTGAGTACCCCAAAGCGAGAGCGGATGGTGCTAATGAAGACAGTGGAAGAGAAGGACCTA c.1440
L S T P K R E R M V L M K T V E E K D L p.480
| 10 . . . . . g.17787
GAGATTGAG | AGGCTTAAGACGAAGCAAAAAGAACTGGAGGCCAAGATGTTGGCCCAGAAG c.1500
E I E | R L K T K Q K E L E A K M L A Q K p.500
. . . . . . g.17847
GCTGAGGAAAAGGAGAACCATTGTCCCACAATGCTCCGGCCCCTTTCACATCGCACAGTC c.1560
A E E K E N H C P T M L R P L S H R T V p.520
. . . . | 11 . g.18296
ACAGGGGCAAAGCCCCTGAAAAAGGCTGTGGTGATGCCCCTACAGCTAA | TTCAGGAGCAG c.1620
T G A K P L K K A V V M P L Q L I | Q E Q p.540
. . . . . | 12. g.19104
GCAGCATCCCCAAATGCCGAGATCCACATCCTGAAGAATAAAGGCCGGAAGAGAAAG | CTG c.1680
A A S P N A E I H I L K N K G R K R K | L p.560
. . . . . . g.19164
GAGTCCCTGGATGCCCTAGAGCCTGAGGAGAAGGCTGAGGACTGCTGGGAGCTACAGATC c.1740
E S L D A L E P E E K A E D C W E L Q I p.580
. . . . . . g.19224
AGCCCGGAGCTACTGGCTCATGGGCGCCAAAAAATACTGGATCTGCTGAACGAAGGCTCA c.1800
S P E L L A H G R Q K I L D L L N E G S p.600
. . . . . . g.19284
GCCCGAGATCTCCGCAGTCTTCAGCGCATTGGCCCGAAGAAGGCCCAGCTAATCGTGGGC c.1860
A R D L R S L Q R I G P K K A Q L I V G p.620
. . . | 13 . . . g.19432
TGGCGGGAGCTCCACGGCCCCTTCAGCCAG | GTGGAGGACCTGGAACGCGTGGAGGGCATA c.1920
W R E L H G P F S Q | V E D L E R V E G I p.640
. . . | 14 . . . g.19580
ACGGGGAAACAGATGGAGTCCTTCCTGAAG | GCAAACATCCTGGGTCTCGCCGCCGGCCAG c.1980
T G K Q M E S F L K | A N I L G L A A G Q p.660
. g.19598
CGCTGTGGCGCCTCCTGA c.1998
R C G A S X p.665
. . . . . . g.19658
ccgtcgtctcctcactccgccttttcaaatttttgtataaccccgtgttgtgtaaataca c.*60
. g.19673
gtttttgctccggtg c.*75
(downstream sequence)
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