(used for variant description)
(last modified January 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_198525.2 in the KIF7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030338.1, covering KIF7 transcript NM_198525.2.
(upstream sequence)
. g.5017
ctggggatggaaacctg c.-61
. . . . | 02 . . g.7521
actgcctggcccgggacggcgcttgcagccaggcag | ggcccagagcagtcctccctcggc c.-1
. . . . . . g.7581
ATGGGGCTGGAGGCTCAGAGGCTGCCAGGGGCTGAGGAGGCCCCAGTGCGGGTTGCCCTG c.60
M G L E A Q R L P G A E E A P V R V A L p.20
. . . . . . g.7641
CGAGTTCGACCACTGCTGCCCAAGGAGCTGCTGCACGGGCATCAGAGCTGCCTGCAGGTG c.120
R V R P L L P K E L L H G H Q S C L Q V p.40
. . . . . . g.7701
GAGCCAGGGCTTGGCCGCGTCACTCTGGGCCGTGACCGACACTTTGGCTTCCACGTGGTG c.180
E P G L G R V T L G R D R H F G F H V V p.60
. . . . . . g.7761
CTGGCCGAGGATGCGGGGCAGGAGGCCGTGTACCAGGCCTGCGTTCAGCCCCTCCTTGAG c.240
L A E D A G Q E A V Y Q A C V Q P L L E p.80
. . . . . . g.7821
GCCTTCTTCGAGGGCTTCAATGCCACTGTCTTTGCCTATGGTCAGACGGGCTCAGGGAAG c.300
A F F E G F N A T V F A Y G Q T G S G K p.100
. . | 03 . . . g.10542
ACATACACCATGGGGGAGGCCAGTGTGG | CCTCCCTCCTTGAGGATGAGCAGGGCATTGTC c.360
T Y T M G E A S V A | S L L E D E Q G I V p.120
. . . . . . g.10602
CCGAGGGCCATGGCCGAGGCCTTCAAGCTCATCGATGAGAACGACCTGCTTGACTGTCTG c.420
P R A M A E A F K L I D E N D L L D C L p.140
. . . . . . g.10662
GTACATGTGTCCTACCTGGAAGTGTACAAGGAGGAGTTCCGAGACCTGCTCGAGGTGGGC c.480
V H V S Y L E V Y K E E F R D L L E V G p.160
. . . . | 04 . g.11095
ACTGCCAGCCGTGACATCCAGCTCCGGGAAGATGAGCGCGGGAATGTTG | TGCTGTGCGGG c.540
T A S R D I Q L R E D E R G N V V | L C G p.180
. . . . . . g.11155
GTGAAGGAGGTCGACGTGGAGGGCCTGGATGAGGTGCTGAGCCTCCTGGAGATGGGCAAC c.600
V K E V D V E G L D E V L S L L E M G N p.200
. . . . . . g.11215
GCGGCGCGGCACACGGGAGCCACGCACCTCAACCACCTGTCTAGCCGCTCACACACGGTC c.660
A A R H T G A T H L N H L S S R S H T V p.220
. . . . . . g.11275
TTCACCGTGACCCTGGAGCAGCGGGGGCGCGCCCCCAGCCGCCTACCCCGCCCCGCCCCG c.720
F T V T L E Q R G R A P S R L P R P A P p.240
. . . . . . g.11335
GGCCAGCTGCTCGTCTCCAAGTTCCACTTCGTGGACCTGGCGGGCTCAGAGAGGGTGCTC c.780
G Q L L V S K F H F V D L A G S E R V L p.260
. . . . . . g.11395
AAGACGGGCAGCACCGGCGAGCGGCTCAAGGAGAGCATCCAGATCAACAGCAGCCTCCTG c.840
K T G S T G E R L K E S I Q I N S S L L p.280
. . . . . . g.11455
GCGCTGGGCAACGTCATCAGCGCCCTGGGGGACCCTCAGCGCCGGGGCAGCCACATACCC c.900
A L G N V I S A L G D P Q R R G S H I P p.300
. . | 05 . . . . g.11714
TACCGCGACTCCAAGATCACCCG | GATCCTCAAAGACTCGCTGGGCGGGAACGCCAAGACG c.960
Y R D S K I T R | I L K D S L G G N A K T p.320
. . . . . . g.11774
GTGATGATCGCCTGCGTCAGCCCTTCCTCCTCCGACTTCGACGAGACCCTCAACACCCTC c.1020
V M I A C V S P S S S D F D E T L N T L p.340
. . . . . . g.11834
AACTACGCCAGCCGCGCCCAGAACATCCGCAACCGCGCCACGGTCAACTGGCGGCCCGAG c.1080
N Y A S R A Q N I R N R A T V N W R P E p.360
. . . . . . g.11894
GCCGAGCGGCCACCCGAAGAGACGGCGAGCGGCGCGCGGGGTCCGCCACGGCACCGCTCC c.1140
A E R P P E E T A S G A R G P P R H R S p.380
. . . . . . g.11954
GAGACCCGCATCATCCACCGCGGCCGGCGCGCCCCAGGCCCAGCCACCGCCTCCGCGGCG c.1200
E T R I I H R G R R A P G P A T A S A A p.400
. . . . . . g.12014
GCCGCCATGCGCCTGGGCGCCGAGTGCGCGCGCTACCGGGCCTGCACCGACGCCGCCTAC c.1260
A A M R L G A E C A R Y R A C T D A A Y p.420
. . . . . . g.12074
AGCCTCTTGCGCGAGCTGCAGGCCGAGCCCGGGCTGCCCGGCGCCGCCGCCCGCAAGGTG c.1320
S L L R E L Q A E P G L P G A A A R K V p.440
. . . . . . g.12134
CGCGACTGGCTGTGCGCCGTCGAGGGCGAGCGCAGCGCCCTGAGCTCCGCCTCCGGGCCC c.1380
R D W L C A V E G E R S A L S S A S G P p.460
. . . . . . g.12194
GATAGCGGCATCGAGAGCGCCTCCGTCGAGGACCAGGCGGCGCAGGGGGCCGGCGGGCGA c.1440
D S G I E S A S V E D Q A A Q G A G G R p.480
| 06 . . . . . . g.12796
AAG | GAGGATGAGGGGGCGCAGCAGCTGCTGACCCTGCAGAACCAGGTGGCGCGGCTGGAG c.1500
K | E D E G A Q Q L L T L Q N Q V A R L E p.500
. . . . . . g.12856
GAGGAGAACCGAGACTTTCTGGCTGCGCTGGAGGACGCCATGGAGCAGTACAAACTGCAG c.1560
E E N R D F L A A L E D A M E Q Y K L Q p.520
| 07 . . . . . . g.13454
| AGCGACCGGCTGCGTGAGCAGCAGGAGGAGATGGTGGAACTGCGGCTGCGGTTAGAGCTG c.1620
| S D R L R E Q Q E E M V E L R L R L E L p.540
. . . . . . g.13514
GTGCGGCCAGGCTGGGGGGGCCCGCGGCTCCTGAATGGCCTGCCTCCCGGGTCCTTTGTG c.1680
V R P G W G G P R L L N G L P P G S F V p.560
. . . . . . g.13574
CCTCGACCTCATACAGCCCCCCTGGGGGGTGCCCACGCCCATGTGCTGGGCATGGTGCCG c.1740
P R P H T A P L G G A H A H V L G M V P p.580
. . . . | 08 . g.14437
CCTGCCTGCCTCCCTGGAGATGAAGTTGGCTCTGAGCAGAGGGGAGAG | CAGGTGACAAAT c.1800
P A C L P G D E V G S E Q R G E | Q V T N p.600
. . . . . . g.14497
GGCAGGGAGGCTGGAGCTGAGTTGCTGACTGAGGTGAACAGGCTGGGAAGTGGCTCTTCA c.1860
G R E A G A E L L T E V N R L G S G S S p.620
. . . . . . g.14557
GCTGCTTCAGAGGAGGAAGAGGAGGAGGAGGAGCCGCCCAGGCGGACCTTACACCTGCGC c.1920
A A S E E E E E E E E P P R R T L H L R p.640
| 09 . . . . . . g.15058
AG | AAATAGGATCAGCAACTGCAGTCAGAGGGCGGGGGCACGCCCAGGGAGTCTGCCAGAG c.1980
R | N R I S N C S Q R A G A R P G S L P E p.660
. . . . . | 10 g.15288
AGGAAGGGCCCAGAGCTTTGCCTTGAGGAGTTGGATGCAGCCATTCCAGGGTCCAGAG | CA c.2040
R K G P E L C L E E L D A A I P G S R A | p.680
. . . . . . g.15348
GTTGGTGGGAGCAAGGCCCGAGTTCAGGCCCGCCAGGTCCCCCCTGCCACAGCCTCAGAG c.2100
V G G S K A R V Q A R Q V P P A T A S E p.700
. . . . . . g.15408
TGGCGGCTGGCCCAGGCCCAGCAGAAGATCCGGGAGCTGGCTATCAACATCCGCATGAAG c.2160
W R L A Q A Q Q K I R E L A I N I R M K p.720
. . . | 11 . . . g.18075
GAGGAGCTTATTGGCGAGCTGGTCCGCACAG | GAAAGGCAGCTCAGGCCCTGAACCGCCAG c.2220
E E L I G E L V R T G | K A A Q A L N R Q p.740
. . . . . . g.18135
CACAGCCAGCGTATCCGGGAGCTGGAGCAGGAGGCAGAGCAGGTGCGGGCCGAGCTGAGT c.2280
H S Q R I R E L E Q E A E Q V R A E L S p.760
. . . . . . g.18195
GAAGGCCAGAGGCAGCTGCGGGAGCTCGAGGGCAAGGAGCTCCAGGATGCTGGCGAGCGG c.2340
E G Q R Q L R E L E G K E L Q D A G E R p.780
. . . . . | 12 . g.26574
TCTCGGCTCCAGGAGTTCCGCAGGAGGGTCGCTGCGGCCCAGAGCCAGGTGCAG | GTGCTG c.2400
S R L Q E F R R R V A A A Q S Q V Q | V L p.800
. . . . . . g.26634
AAGGAGAAGAAGCAGGCTACGGAGCGGCTGGTGTCACTGTCGGCCCAGAGTGAGAAGCGA c.2460
K E K K Q A T E R L V S L S A Q S E K R p.820
. . . . . . g.26694
CTGCAGGAGCTCGAGCGGAACGTGCAGCTCATGCGGCAGCAGCAGGGACAGCTGCAGAGG c.2520
L Q E L E R N V Q L M R Q Q Q G Q L Q R p.840
. . . . . . g.26754
CGGCTTCGCGAGGAGACGGAGCAGAAGCGGCGCCTGGAGGCAGAAATGAGCAAGCGGCAG c.2580
R L R E E T E Q K R R L E A E M S K R Q p.860
. | 13 . . . . . g.27233
CACCGCGTCAAG | GAGCTGGAGCTGAAGCATGAGCAACAGCAGAAGATCCTGAAGATTAAG c.2640
H R V K | E L E L K H E Q Q Q K I L K I K p.880
. . . . . . g.27293
ACGGAAGAGATCGCGGCATTCCAGAGGAAGAGGCGCAGTGGCAGCAACGGCTCTGTGGTC c.2700
T E E I A A F Q R K R R S G S N G S V V p.900
. | 14 . . . . g.27497
AGCCTGGAACAGCAGCAG | AAGATTGAGGAGCAGAAGAAGTGGCTGGACCAGGAGATGGAG c.2760
S L E Q Q Q | K I E E Q K K W L D Q E M E p.920
. . . . . . g.27557
AAGGTGCTACAGCAGCGGCGGGCGCTGGAGGAGCTGGGGGAGGAGCTCCACAAGCGGGAG c.2820
K V L Q Q R R A L E E L G E E L H K R E p.940
. . . . . . g.27617
GCCATCCTGGCCAAGAAGGAGGCCCTGATGCAGGAGAAGACGGGGCTGGAGAGCAAGCGC c.2880
A I L A K K E A L M Q E K T G L E S K R p.960
. | 15 . . . . . g.28786
CTGAGATCCAGCCAG | GCCCTCAACGAGGACATCGTGCGAGTGTCCAGCCGGCTGGAGCAC c.2940
L R S S Q | A L N E D I V R V S S R L E H p.980
. . . . . . g.28846
CTGGAGAAGGAGCTGTCCGAGAAGAGCGGGCAGCTGCGGCAGGGCAGCGCCCAGAGCCAG c.3000
L E K E L S E K S G Q L R Q G S A Q S Q p.1000
. . . . . . g.28906
CAGCAGATCCGCGGGGAGATCGACAGCCTGCGCCAGGAGAAGGACTCGCTGCTCAAGCAG c.3060
Q Q I R G E I D S L R Q E K D S L L K Q p.1020
. . . . . | 16 . g.29967
CGCCTGGAGATCGACGGCAAGCTGAGGCAGGGGAGTCTGCTGTCCCCCGAG | GAGGAGCGG c.3120
R L E I D G K L R Q G S L L S P E | E E R p.1040
. . . . . . g.30027
ACGCTGTTCCAGTTGGATGAGGCCATCGAGGCCCTGGATGCTGCCATTGAGTATAAGAAT c.3180
T L F Q L D E A I E A L D A A I E Y K N p.1060
. . . . . . g.30087
GAGGCCATCACATGCCGCCAGCGGGTGCTTCGGGCCTCAGCCTCGTTGCTGTCCCAGTGC c.3240
E A I T C R Q R V L R A S A S L L S Q C p.1080
. . . . . . g.30147
GAGATGAACCTCATGGCCAAGCTCAGCTACCTCTCATCCTCAGAGACCAGAGCCCTCCTC c.3300
E M N L M A K L S Y L S S S E T R A L L p.1100
. | 17 . . . . g.30920
TGCAAGTATTTTGACAAG | GTGGTGACGCTCCGAGAGGAGCAGCACCAGCAGCAGATTGCC c.3360
C K Y F D K | V V T L R E E Q H Q Q Q I A p.1120
. . . . . . g.30980
TTCTCGGAACTGGAGATGCAGCTGGAGGAGCAGCAGAGGCTGGTGTACTGGCTGGAGGTG c.3420
F S E L E M Q L E E Q Q R L V Y W L E V p.1140
. . . . . . g.31040
GCCCTGGAGCGGCAGCGCCTGGAGATGGACCGCCAGCTGACCCTGCAGCAGAAGGAGCAC c.3480
A L E R Q R L E M D R Q L T L Q Q K E H p.1160
. . . | 18. . . g.31352
GAGCAGAACATGCAGCTGCTCCTGCAGCAGAGTCGAG | ACCACCTCGGTGAAGGGTTAGCA c.3540
E Q N M Q L L L Q Q S R D | H L G E G L A p.1180
. . . . . . g.31412
GACAGCAGGAGGCAGTATGAGGCCCGGATTCAAGCTCTGGAGAAGGAACTGGGCCGTTAC c.3600
D S R R Q Y E A R I Q A L E K E L G R Y p.1200
. . . . . . g.31472
ATGTGGATAAACCAGGAACTGAAACAGAAGCTCGGCGGTGTGAACGCTGTAGGCCACAGC c.3660
M W I N Q E L K Q K L G G V N A V G H S p.1220
| 19 . . . . . . g.31721
AGGG | GTGGGGAGAAGAGGAGCCTGTGCTCGGAGGGCAGACAGGCTCCTGGAAATGAAGAT c.3720
R G | G E K R S L C S E G R Q A P G N E D p.1240
. . . . . . g.31781
GAGCTCCACCTGGCACCCGAGCTTCTCTGGCTGTCCCCCCTCACTGAGGGGGCCCCCCGC c.3780
E L H L A P E L L W L S P L T E G A P R p.1260
. . . . . . g.31841
ACCCGGGAGGAGACGCGGGACTTGGTCCACGCTCCGTTACCCTTGACCTGGAAACGCTCG c.3840
T R E E T R D L V H A P L P L T W K R S p.1280
. . . . . . g.31901
AGCCTGTGTGGTGAGGAGCAGGGGTCCCCCGAGGAACTGAGGCAGCGGGAGGCGGCTGAG c.3900
S L C G E E Q G S P E E L R Q R E A A E p.1300
. . . . . . g.31961
CCCCTGGTGGGGCGGGTGCTTCCTGTGGGTGAGGCAGGCCTGCCCTGGAACTTTGGGCCT c.3960
P L V G R V L P V G E A G L P W N F G P p.1320
. . . . . . g.32021
TTGTCCAAGCCCCGGCGGGAACTGCGACGAGCCAGCCCGGGGATGATTGATGTCCGGAAA c.4020
L S K P R R E L R R A S P G M I D V R K p.1340
. g.32033
AACCCCCTGTAA c.4032
N P L X p.1343
. . . . . . g.32093
gccctcggggcagaccctgccttggagggagactccgagcctgctgaaaggggcagctgc c.*60
. . . . . . g.32153
ctgttttgcttctgtgaagggcagtccttaccgcacaccctaaatccaggccctcatctg c.*120
. . . . . . g.32213
taccctcactgggatcaacaaatttgggccatggcccaaaagaactggaccctcatttaa c.*180
. . . . . . g.32273
caaaataatatgcaaattcccaccacttacttccatgaagctgtggtacccaattgccgc c.*240
. . . . . . g.32333
cttgtgtcttgctcgaatctcaggacaattctggtttcaggcgtaaatggatgtgcttgt c.*300
. . . . . . g.32393
agttcaggggtttggccaagaatcatcacgaaagggtcggtggtaaccaggttgtggttt c.*360
. . . . . . g.32453
aaatggtcttatgtatataggggaaactgggagactttaggatcttaaaaaaccatttaa c.*420
. . g.32482
taaaaaaaaatctttgaagggacaaatgg c.*449
(downstream sequence)
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