(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014714.3 in the IFT140 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032783.1, covering IFT140 transcript NM_014714.3.
(upstream sequence)
g.5002
ac c.-361
. . . . . . g.5062
agccaataggccagggcccgtgctgtgattggccgcagcagtgttgacggatacgtgaga c.-301
. . . . . . g.5122
agaaaacggcgtggtagctcggagtgtggaatcgggcgcgaacctgagttctgagaagtg c.-241
. . | 02 . . . g.6296
tggaagcacgtctgaggca | agcggaataacctggcccccgacgctcgggcctcggagctg c.-181
. . . . . . g.6356
cacgtgcgtgcccgatcgccttcggctctttccggccgctcggggcgcttcgggagtcct c.-121
. . . . . . g.6416
cggggccgcctcgctcaccttcggctatttccgcgttcctggcgcgccgttgtcccggca c.-61
. . . | 03 . . g.9842
acgcgcggcggctcagcggcctggcagag | gtttcagcgctgaggaggcctgagttccgtc c.-1
. . . . . . g.9902
ATGGCCCTCTATTATGACCACCAGATAGAAGCCCCGGATGCAGCAGGGTCACCCTCATTT c.60
M A L Y Y D H Q I E A P D A A G S P S F p.20
. . . . . . g.9962
ATCAGCTGGCACCCTGTCCATCCATTCTTGGCAGTTGCTTACATCAGCACAACCTCAACA c.120
I S W H P V H P F L A V A Y I S T T S T p.40
. . | 04. . . . g.14550
GGCAGCGTGGATATTTACCTGGAGCAA | GGGGAGTGCGTGCCAGATACACACGTCGAGAGG c.180
G S V D I Y L E Q | G E C V P D T H V E R p.60
. . . . . . g.14610
CCGTTCCGGGTTGCTTCCCTGTGCTGGCACCCGACGCGGCTGGTGCTGGCTGTGGGCTGG c.240
P F R V A S L C W H P T R L V L A V G W p.80
. . . . . . g.14670
GAGACTGGAGAAGTGACGGTGTTTAACAAGCAGGACAAGGAGCAGCACACGATGCCCCTG c.300
E T G E V T V F N K Q D K E Q H T M P L p.100
. . . . . . g.14730
ACACACACAGCCGACATCACCGTGCTCCGTTGGAGCCCCAGTGGAAACTGCCTGCTGTCT c.360
T H T A D I T V L R W S P S G N C L L S p.120
| 05 . . . . . g.24571
GGGGACAGG | CTTGGTGTCTTGCTCTTGTGGAGGTTGGACCAAAGGGGCCGAGTGCAAGGG c.420
G D R | L G V L L L W R L D Q R G R V Q G p.140
. . . . . . g.24631
ACGCCTCTGCTGAAACACGAGTATGGGAAACACCTCACGCACTGCATCTTCCGGCTCCCC c.480
T P L L K H E Y G K H L T H C I F R L P p.160
. | 06 . . . . . g.24839
CCTCCTGGCGA | GGACCTGGTTCAGTTGGCAAAGGCAGCTGTGAGCGGTGATGAGAAAGCC c.540
P P G E | D L V Q L A K A A V S G D E K A p.180
. . . . . . g.24899
CTGGACATGTTTAACTGGAAGAAGAGCAGTTCTGGAAGTTTGCTGAAGATGGGGTCTCAC c.600
L D M F N W K K S S S G S L L K M G S H p.200
. . . | 07 . . . g.27354
GAGGGGCTGTTGTTCTTTGTCAGTCTGATGGACG | GGACAGTGCACTATGTGGATGAGAAG c.660
E G L L F F V S L M D G | T V H Y V D E K p.220
. . . . . . g.27414
GGCAAGACCACTCAGGTGGTGTCCGCAGACAGCACGATTCAGATGCTGTTCTACATGGAG c.720
G K T T Q V V S A D S T I Q M L F Y M E p.240
. . . . . . g.27474
AAGAGGGAGGCACTGGTGGTGGTCACAGAGAACCTCCGGCTGTCCCTGTACACGGTGCCT c.780
K R E A L V V V T E N L R L S L Y T V P p.260
. . . | 08 . . . g.29114
CCTGAGGGCAAAGCAGAAGAAGTGATGAAG | GTCAAGCTGAGCGGGAAAACCGGCCGCCGG c.840
P E G K A E E V M K | V K L S G K T G R R p.280
. . . . . . g.29174
GCAGACATCGCTTTGATTGAAGGCAGCCTTCTCGTGATGGCCGTCGGGGAGGCTGCCCTC c.900
A D I A L I E G S L L V M A V G E A A L p.300
| 09 . . . . . . g.29862
AG | ATTCTGGGACATAGAACGAGGAGAGAATTATATACTGAGTCCAGATGAGAAGTTTGGC c.960
R | F W D I E R G E N Y I L S P D E K F G p.320
. . . . | 10 . g.30844
TTTGAGAAAGGAGAGAATATGAACTGTGTGTGTTACTGTAAAGTCAAAG | GTCTTCTGGCC c.1020
F E K G E N M N C V C Y C K V K G | L L A p.340
. . . . . . g.30904
GCTGGTACCGACAGAGGGCGAGTAGCCATGTGGAGGAAAGTACCAGACTTCCTGGGCAGC c.1080
A G T D R G R V A M W R K V P D F L G S p.360
. . . . . . g.30964
CCCGGGGCAGAGGGCAAGGACAGGTGGGCCCTTCAGACCCCTACCGAGCTCCAAGGAAAC c.1140
P G A E G K D R W A L Q T P T E L Q G N p.380
. | 11 . . . . . g.32733
ATCACGCAAATCCAG | TGGGGTTCCAGGAAGAACCTGCTGGCAGTGAACAGCGTCATCTCC c.1200
I T Q I Q | W G S R K N L L A V N S V I S p.400
. . . . . . g.32793
GTGGCCATCCTCAGCGAGCGGGCCATGTCGTCACACTTCCACCAGCAAGTGGCCGCCATG c.1260
V A I L S E R A M S S H F H Q Q V A A M p.420
. . . . . . g.32853
CAGGTCTCCCCGAGTCTGCTGAATGTGTGCTTCCTGTCCACGGGGGTCGCACACAGCCTG c.1320
Q V S P S L L N V C F L S T G V A H S L p.440
. . . | 12 . . g.33743
CGCACCGACATGCACATCAGTGGAGTGTTTGCCACCAAG | GATGCTGTCGCAGTCTGGAAC c.1380
R T D M H I S G V F A T K | D A V A V W N p.460
. . . . . | 13 . g.36266
GGAAGGCAGGTGGCGATCTTCGAGCTTTCTGGAGCCGCGATACGGAGTGCAG | GGACCTTC c.1440
G R Q V A I F E L S G A A I R S A G | T F p.480
. . . . . . g.36326
TTGTGTGAGACGCCTGTGTTAGCAATGCATGAAGAAAACGTTTACACGGTGGAGTCAAAC c.1500
L C E T P V L A M H E E N V Y T V E S N p.500
. . | 14 . . . . g.45610
CGAGTTCAAGTTCGAACCTGGCAG | GGGACTGTCAAACAACTCCTCCTTTTCTCGGAGACT c.1560
R V Q V R T W Q | G T V K Q L L L F S E T p.520
. . . . . . g.45670
GAGGGGAATCCCTGCTTCTTGGACATCTGTGGGAATTTCCTGGTTGTAGGGACAGACTTG c.1620
E G N P C F L D I C G N F L V V G T D L p.540
. . . | 15 . . . g.48802
GCTCACTTTAAAAGCTTTGATCTTTCCCGAAG | AGAGGCCAAAGCACACTGTAGCTGCAGG c.1680
A H F K S F D L S R R | E A K A H C S C R p.560
. . . . . . g.48862
AGCCTGGCGGAGCTGGTCCCTGGGGTGGGGGGCATCGCTTCTCTGCGGTGCAGCAGCAGC c.1740
S L A E L V P G V G G I A S L R C S S S p.580
. . . | 16 . . . g.50847
GGGAGCACCATCAGCATCCTCCCCAGCAAG | GCTGACAACAGCCCTGATTCCAAAATCTGC c.1800
G S T I S I L P S K | A D N S P D S K I C p.600
. . . . . . g.50907
TTCTACGATGTTGAAATGGACACAGTGACCGTCTTTGACTTCAAGACTGGACAAATTGAT c.1860
F Y D V E M D T V T V F D F K T G Q I D p.620
. . . . | 17 . . g.52965
CGGAGAGAGACGCTGTCCTTTAATGAGCAAGAGACTAATAA | GAGCCACCTCTTTGTGGAT c.1920
R R E T L S F N E Q E T N K | S H L F V D p.640
. . . . . . g.53025
GAGGGACTGAAAAATTATGTTCCCGTGAACCACTTCTGGGACCAGAGTGAGCCCCGGCTG c.1980
E G L K N Y V P V N H F W D Q S E P R L p.660
. . . . . . g.53085
TTTGTATGCGAAGCCGTGCAGGAGACGCCGCGCTCCCAGCCTCAGTCTGCAAACGGGCAG c.2040
F V C E A V Q E T P R S Q P Q S A N G Q p.680
. . | 18. . . . g.55025
CCCCAAGATGGGCGCGCTGGCCCTGCG | GCAGATGTTTTGATCCTGTCCTTCTTCATTTCC c.2100
P Q D G R A G P A | A D V L I L S F F I S p.700
. . . . . . g.55085
GAAGAGCACGGCTTCCTGCTTCATGAGAGCTTCCCCCGGCCTGCCACCTCCCACAGTCTC c.2160
E E H G F L L H E S F P R P A T S H S L p.720
. . . | 19 . . g.58995
CTGGGGATGGAAGTGCCTTATTACTACTTCACAAGAAAG | CCCGAAGAAGCAGACAGAGAA c.2220
L G M E V P Y Y Y F T R K | P E E A D R E p.740
. . . . . . g.59055
GACGAGGTGGAGCCTGGGTGCCACCACATCCCTCAGATGGTGTCCAGGAGACCCCTGCGA c.2280
D E V E P G C H H I P Q M V S R R P L R p.760
. . . . . . g.59115
GACTTTGTGGGGCTGGAGGACTGCGACAAGGCCACCCGGGACGCCATGCTCCACTTCAGC c.2340
D F V G L E D C D K A T R D A M L H F S p.780
. . . . . | 20 g.90313
TTCTTTGTCACCATAGGAGACATGGACGAAGCCTTCAAATCCATCAAGCTCATCAAAAG | T c.2400
F F V T I G D M D E A F K S I K L I K S | p.800
. . . . . . g.90373
GAGGCCGTCTGGGAGAACATGGCGCGCATGTGCGTGAAGACCCAGCGGCTGGACGTGGCC c.2460
E A V W E N M A R M C V K T Q R L D V A p.820
. . . . . . g.90433
AAGGTGTGCCTGGGGAACATGGGCCATGCCCGCGGGGCCCGAGCGCTGCGTGAGGCGGAG c.2520
K V C L G N M G H A R G A R A L R E A E p.840
. . . . . | 21. g.91034
CAGGAGCCGGAGCTAGAGGCCCGCGTGGCCGTGCTGGCCACGCAGCTGGGCATGCTG | GAG c.2580
Q E P E L E A R V A V L A T Q L G M L | E p.860
. . . . . . g.91094
GACGCCGAGCAGCTGTACAGGAAGTGCAAGCGCCACGACCTCCTGAACAAGTTCTACCAG c.2640
D A E Q L Y R K C K R H D L L N K F Y Q p.880
. . . . . . g.91154
GCTGCGGGCCGGTGGCAGGAGGCCCTCCAGGTAGCCGAGCACCACGATCGCGTGCACCTG c.2700
A A G R W Q E A L Q V A E H H D R V H L p.900
. . . . . . g.91214
CGCAGCACCTACCACCGCTATGCCGGGCACCTGGAGGCCAGCGCCGACTGCAGCCGGGCC c.2760
R S T Y H R Y A G H L E A S A D C S R A p.920
| 22 . . . . . g.91834
CTCAGTTA | CTACGAGAAGTCGGACACGCACCGCTTCGAGGTGCCCAGGATGCTGTCGGAG c.2820
L S Y | Y E K S D T H R F E V P R M L S E p.940
. . . . | 23 . . g.92208
GACCTGCCGTCCCTGGAGCTCTACGTGAATAAAATGAAGGATAA | GACCCTGTGGCGGTGG c.2880
D L P S L E L Y V N K M K D K | T L W R W p.960
. . . . . . g.92268
TGGGCGCAGTACCTGGAGAGCCAGGGCGAGATGGACGCCGCGCTGCACTACTACGAGCTG c.2940
W A Q Y L E S Q G E M D A A L H Y Y E L p.980
. . . . . | 24. g.92416
GCCCGGGACCACTTCTCCCTGGTCCGCATCCACTGCTTCCAGGGCAATGTCCAGAAG | GCT c.3000
A R D H F S L V R I H C F Q G N V Q K | A p.1000
. . . . . . g.92476
GCGCAAATAGCCAACGAGACAGGAAACCTGGCGGCCTCCTACCACCTCGCCCGCCAGTAC c.3060
A Q I A N E T G N L A A S Y H L A R Q Y p.1020
. . . . . . g.92536
GAGAGCCAGGAGGAGGTCGGGCAGGCGGTGCACTTCTACACCCGGGCACAGGCCTTCAAG c.3120
E S Q E E V G Q A V H F Y T R A Q A F K p.1040
. . | 25 . . . . g.93191
AATGCCATCCGCCTGTGCAAG | GAGAACGGCCTGGACGACCAGCTCATGAACTTGGCCCTG c.3180
N A I R L C K | E N G L D D Q L M N L A L p.1060
. . . . . . g.93251
CTGAGCTCCCCCGAGGACATGATCGAGGCGGCCCGATACTACGAGGAGAAGGGCGTGCAG c.3240
L S S P E D M I E A A R Y Y E E K G V Q p.1080
. . . | 26 . . . g.93438
ATGGACAGGGCGGTCATGCTGTACCACAAG | GCTGGCCACTTCTCCAAGGCCCTGGAGCTG c.3300
M D R A V M L Y H K | A G H F S K A L E L p.1100
. . . . . . g.93498
GCCTTTGCCACCCAGCAGTTTGTGGCCCTACAGCTCATAGCAGAGGACCTGGATGAGACG c.3360
A F A T Q Q F V A L Q L I A E D L D E T p.1120
. . . . . . g.93558
TCAGACCCTGCGCTCCTGGCCCGCTGCTCCGACTTCTTCATCGAGCACAGTCAGTACGAG c.3420
S D P A L L A R C S D F F I E H S Q Y E p.1140
. . . | 27 . . . g.96327
AGGGCGGTAGAGCTGCTGCTGGCTGCCAGGAAG | TATCAGGAAGCCCTGCAGCTGTGCCTG c.3480
R A V E L L L A A R K | Y Q E A L Q L C L p.1160
. . . . . . g.96387
GGGCAGAACATGAGCATCACCGAGGAGATGGCGGAAAAGATGACCGTGGCCAAGGACTCC c.3540
G Q N M S I T E E M A E K M T V A K D S p.1180
. . . . . . g.96447
TCGGACCTGCCTGAGGAGTCGCGGCGGGAGCTGCTGGAGCAGATAGCAGACTGCTGCATG c.3600
S D L P E E S R R E L L E Q I A D C C M p.1200
. . . . . . g.96507
CGCCAGGGCAGCTACCACCTGGCCACCAAGAAGTACACGCAGGCCGGCAACAAGCTGAAG c.3660
R Q G S Y H L A T K K Y T Q A G N K L K p.1220
| 28 . . . . . . g.96825
| GCCATGAGGGCGCTGCTCAAATCCGGAGACACGGAGAAAATCACGTTCTTCGCGAGCGTG c.3720
| A M R A L L K S G D T E K I T F F A S V p.1240
. . . . . . g.96885
TCCAGGCAGAAGGAAATCTACATCATGGCTGCTAACTACCTGCAGTCCCTGGACTGGCGG c.3780
S R Q K E I Y I M A A N Y L Q S L D W R p.1260
. . . . . . g.96945
AAGGAGCCGGAGATCATGAAGAACATCATCGGCTTCTACACCAAGGGGCGGGCCCTGGAC c.3840
K E P E I M K N I I G F Y T K G R A L D p.1280
. . . | 29 . . . g.97088
CTCCTGGCTGGCTTTTATGACGCTTGTGCCCAG | GTGGAGATTGATGAATACCAGAACTAC c.3900
L L A G F Y D A C A Q | V E I D E Y Q N Y p.1300
. . . . . . g.97148
GACAAAGCCCACGGGGCGCTGACCGAGGCCTACAAGTGCCTGGCCAAGGCCAAGGCCAAG c.3960
D K A H G A L T E A Y K C L A K A K A K p.1320
. . . . . . g.97208
AGCCCCCTGGACCAGGAGACCAGGCTGGCGCAGCTGCAGAGCAGGATGGCACTGGTGAAG c.4020
S P L D Q E T R L A Q L Q S R M A L V K p.1340
. . | 30 . . . . g.98791
AGGTTCATCCAGGCCCGCAG | GACGTACACAGAGGACCCCAAGGAGTCCATCAAGCAGTGT c.4080
R F I Q A R R | T Y T E D P K E S I K Q C p.1360
. . . . . . g.98851
GAGCTGCTCCTGGAGGAACCAGACCTGGACAGCACCATCCGCATCGGGGACGTCTATGGC c.4140
E L L L E E P D L D S T I R I G D V Y G p.1380
. . . . | 31 . . g.105976
TTCCTGGTGGAGCACTACGTGCGGAAGGAGGAATACCAGACG | GCCTACAGATTCCTGGAG c.4200
F L V E H Y V R K E E Y Q T | A Y R F L E p.1400
. . . . . . g.106036
GAGATGCGGCGGCGGCTTCCCTTGGCCAACATGTCCTACTACGTGAGCCCGCAGGCCGTG c.4260
E M R R R L P L A N M S Y Y V S P Q A V p.1420
. . . . . . g.106096
GACGCCGTGCACCGGGGGCTGGGTCTCCCACTGCCACGCACCGTCCCCGAGCAGGTCCGC c.4320
D A V H R G L G L P L P R T V P E Q V R p.1440
. . . . . . g.106156
CACAACAGCATGGAGGACGCCAGGGAGCTGGACGAGGAGGTGGTGGAAGAGGCAGATGAC c.4380
H N S M E D A R E L D E E V V E E A D D p.1460
g.106165
GACCCCTGA c.4389
D P X p.1462
. . . . . . g.106225
ggggcctgggccccaggaccagcgtgctgctgcagaaaggcatcttctggaatttttttg c.*60
. . . . . . g.106285
tcagctgtggcaaagccagcatttttgctgggaaaaaacatgtctgtgttggaatacgcg c.*120
. . . . . . g.106345
acagagctgggcgagaacgcagcggcccgggccggcggagggtgtgacccgtctgcacct c.*180
. . . . . . g.106405
tgctctgtcccacctgcctctgggtgcccggcagctccactagatttttggattcattcc c.*240
. . . . . . g.106465
tttgaagggagtcgggttcacccttccatcgtattctcccaactacacattgtaaagcct c.*300
. . . . . . g.106525
gagaaacttctagaacctcaggaagctgcagctggagggctggggcacctgcccccctgc c.*360
. . . . . . g.106585
tccccacacatcatatcctccccatactcctgcagggcccacggctcctgagcaacagct c.*420
. . . . . . g.106645
gggacacccgggccttggcggctgcaccccctgctaggctctgcccaccggccaccaaca c.*480
. . . g.106682
ctcctgtaattccaataaagcagtttattttctgaga c.*517
(downstream sequence)
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