(used for variant description)
(last modified January 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_020800.2 in the IFT80 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_022932.1, covering IFT80 transcript NM_020800.2.
(upstream sequence)
. g.5013
gcgcatgcgcgaa c.-421
. . . . . . g.5073
ctcctggcgggacctacgcggtagaagtttctactaagtgaaaaggaagagcgagggatt c.-361
. . . . . . g.5133
cttttctctgtggtctacagcagcagcactattattaaaaatatttggaaagacaacctg c.-301
. . . . . . g.5193
gcaagttttgaaaaagatttttttaaaaacggtagggttccgctcacagtgggaggcggg c.-241
. . . . . . g.5253
gctcagtggtccagaaacgcctcttcagaagagggcgggctcgccgagaggcggggtctc c.-181
. . . . . . g.5313
gggcccactcggatgacgtgccgcgtagaagtatcgcgggaagaggaagggagcgtaact c.-121
. . . . . . g.5373
cttagaagtcactatggtgacggggaggtaccaggtatttgagagcaatcgccaccgctt c.-61
. . | 02 . . . . g.19932
tcctggaacttgag | taaatacaatcaagtggcatcttaaatttttgctggaagtggagtc c.-1
. . . | 03. . . g.22831
ATGAGACTAAAGATATCTCTTTTAAAAGAACCAAAGC | ATCAAGAATTAGTAAGCTGTGTG c.60
M R L K I S L L K E P K H | Q E L V S C V p.20
. . . . . . g.22891
GGCTGGACTACTGCTGAAGAGCTGTATTCATGTAGTGATGATCACCAGATAGTGAAGTGG c.120
G W T T A E E L Y S C S D D H Q I V K W p.40
. . . . . . g.22951
AACTTGTTAACCAGTGAAACAACTCAAATAGTAAAGCTTCCTGATGATATTTACCCTATT c.180
N L L T S E T T Q I V K L P D D I Y P I p.60
. . . . . . g.23011
GATTTTCACTGGTTTCCAAAAAGTTTGGGTGTAAAGAAACAAACCCAGGCAGAAAGCTTT c.240
D F H W F P K S L G V K K Q T Q A E S F p.80
. | 04 . . . . g.27033
GTCCTCACAAGTTCTGATG | GTAAATTTCATCTGATTTCCAAGTTAGGAAGAGTGGAAAAA c.300
V L T S S D G | K F H L I S K L G R V E K p.100
. . . . . . g.27093
AGTGTAGAAGCTCACTGTGGAGCAGTACTTGCAGGAAGATGGAATTATGAAGGAACAGCA c.360
S V E A H C G A V L A G R W N Y E G T A p.120
. | 05 . . . . . g.28702
TTAGTTACAG | TTGGAGAAGATGGACAAATAAAAATTTGGTCAAAGACTGGGATGCTTAGA c.420
L V T V | G E D G Q I K I W S K T G M L R p.140
. | 06 . . . . g.38421
TCAACTTTAGCTCAGCAAG | GAACACCAGTGTATTCAGTAGCGTGGGGCCCTGATTCAGAA c.480
S T L A Q Q G | T P V Y S V A W G P D S E p.160
. . . . . . g.38481
AAGGTTCTTTATACAGCAGGCAAGCAGCTAATCATTAAACCTCTTCAACCAAATGCTAAA c.540
K V L Y T A G K Q L I I K P L Q P N A K p.180
| 07 . . . . . g.47005
GTTTTGCAG | TGGAAAGCTCATGATGGCATTATTTTAAAAGTAGATTGGAACTCGGTCAAT c.600
V L Q | W K A H D G I I L K V D W N S V N p.200
. . . | 08 . . g.48403
GATCTTATTTTATCTGCTGGTGAAGACTGTAAATATAAG | GTATGGGATAGTTACGGCCGC c.660
D L I L S A G E D C K Y K | V W D S Y G R p.220
. . . . . . g.48463
CCACTGTACAATTCACAACCTCATGAGCATCCCATTACTTCAGTTGCCTGGGCTCCAGAT c.720
P L Y N S Q P H E H P I T S V A W A P D p.240
. . . . . | 09. g.84596
GGAGAATTATTTGCTGTTGGATCGTTTCATACTTTACGCTTGTGTGATAAAACTGGG | TGG c.780
G E L F A V G S F H T L R L C D K T G | W p.260
. . . . . . g.84656
TCATATGCATTAGAAAAACCCAACACTGGCAGCATATTTAATATTGCATGGTCTATCGAT c.840
S Y A L E K P N T G S I F N I A W S I D p.280
. . . . . . g.84716
GGCACTCAGATTGCTGGAGCCTGTGGAAATGGACATGTCGTTTTTGCACATGTGGTGGAA c.900
G T Q I A G A C G N G H V V F A H V V E p.300
. . . . . | 10. g.96754
CAACATTGGGAGTGGAAAAATTTTCAAGTAACATTAACGAAAAGAAGAGCCATGCAG | GTT c.960
Q H W E W K N F Q V T L T K R R A M Q | V p.320
. . . . . . g.96814
CGTAATGTTCTTAATGATGCAGTGGATTTACTGGAATTCCGTGATAGAGTCATTAAAGCA c.1020
R N V L N D A V D L L E F R D R V I K A p.340
. . . . . | 11 . g.100547
TCTTTGAACTATGCACACTTAGTTGTTTCAACGTCTCTTCAATGTTACGTGTTCTC | CACG c.1080
S L N Y A H L V V S T S L Q C Y V F S | T p.360
. . . . . . g.100607
AAGAACTGGAACACACCAATTATATTTGATCTCAAAGAAGGAACTGTTAGTTTGATTCTG c.1140
K N W N T P I I F D L K E G T V S L I L p.380
. | 12 . . . . . g.103535
CAGGCAGAAAG | ACATTTTCTTCTTGTAGATGGTAGTAGTATCTATTTATATTCATATGAA c.1200
Q A E R | H F L L V D G S S I Y L Y S Y E p.400
. . . . . . g.103595
GGGCGCTTTATTTCATCTCCAAAATTTCCTGGAATGAGAACAGATATTCTGAATGCACAG c.1260
G R F I S S P K F P G M R T D I L N A Q p.420
. . . . . | 13 . g.118669
ACTGTGTCTTTGAGTAATGATACCATAGCAATAAGAGACAAAGCTGATGAAAAAA | TAATC c.1320
T V S L S N D T I A I R D K A D E K I | I p.440
. . . . . . g.118729
TTCCTCTTTGAGGCATCAACCGGAAAGCCGTTAGGTGATGGAAAGTTTCTTTCTCATAAG c.1380
F L F E A S T G K P L G D G K F L S H K p.460
| 14 . . . . . . g.121979
| AATGAAATCTTGGAAATTGCTCTGGATCAAAAAGGACTTACCAATGATAGAAAAATTGCT c.1440
| N E I L E I A L D Q K G L T N D R K I A p.480
. . . . . . g.122039
TTCATTGATAAAAATAGAGATCTCTGTATCACTTCTGTGAAACGATTTGGGAAGGAAGAA c.1500
F I D K N R D L C I T S V K R F G K E E p.500
. | 15 . . . . . g.123762
CAAATTATCAAGCTTG | GAACAATGGTGCATACTTTGGCATGGAACGATACATGCAATATC c.1560
Q I I K L G | T M V H T L A W N D T C N I p.520
. . . . . . g.123822
CTTTGTGGACTTCAAGATACTCGATTTATAGTGTGGTATTACCCCAATACAGTTTATGTG c.1620
L C G L Q D T R F I V W Y Y P N T V Y V p.540
. . . . | 16 . . g.125184
GACAGAGACATTTTGCCTAAAACATTATATGAAAGGGATGCAAG | TGAATTTAGTAAAAAT c.1680
D R D I L P K T L Y E R D A S | E F S K N p.560
. . . . . . g.125244
CCCCATATTGTGAGTTTTGTTGGAAATCAAGTAACTATTAGAAGAGCTGATGGCTCCCTG c.1740
P H I V S F V G N Q V T I R R A D G S L p.580
. . . . . . g.125304
GTTCACATCAGCATAACACCATATCCTGCTATTCTCCATGAATATGTAAGCAGTTCAAAA c.1800
V H I S I T P Y P A I L H E Y V S S S K p.600
. . . | 17 . . . g.126886
TGGGAAGATGCTGTGAGACTTTGTCGCTTTGTTAAG | GAGCAAACCATGTGGGCTTGTCTA c.1860
W E D A V R L C R F V K | E Q T M W A C L p.620
. . . . . . g.126946
GCTGCTATGGCAGTTGCTAATCGAGATATGACTACTGCAGAAATAGCCTATGCAGCAATT c.1920
A A M A V A N R D M T T A E I A Y A A I p.640
| 18 . . . . . . g.127108
GGTGAA | ATTGATAAGGTTCAGTACATCAATTCTATAAAAAATCTTCCATCTAAAGAATCA c.1980
G E | I D K V Q Y I N S I K N L P S K E S p.660
. . . . . . g.127168
AAAATGGCCCACATACTACTGTTTAGTGGGAACATACAGGAGGCTGAAATAGTACTTCTT c.2040
K M A H I L L F S G N I Q E A E I V L L p.680
. . . . . | 19 g.135997
CAGGCTGGCCTTGTTTATCAAGCAATCCAGATCAATATTAATCTCTACAACTGGGAAAG | G c.2100
Q A G L V Y Q A I Q I N I N L Y N W E R | p.700
. . . . . . g.136057
GCACTGGAATTGGCTGTAAAATACAAAACACATGTTGATACAGTTCTTGCTTACCGTCAA c.2160
A L E L A V K Y K T H V D T V L A Y R Q p.720
. . . . . . g.136117
AAGTTTTTGGAGACATTTGGTAAACAGGAAACTAATAAACGATACTTGCATTATGCAGAA c.2220
K F L E T F G K Q E T N K R Y L H Y A E p.740
| 20 . . . . . . g.145954
GGT | CTCCAAATAGATTGGGAGAAAATCAAAGCCAAAATTGAGATGGAAATTACAAAAGAA c.2280
G | L Q I D W E K I K A K I E M E I T K E p.760
. . . . . g.146008
AGAGAGCAATCATCAAGCAGCCAATCCAGCAAGAGTATAGGTTTAAAGCCCTAA c.2334
R E Q S S S S Q S S K S I G L K P X p.777
. . . . . . g.146068
atgccatgcgtatctttaagaaattttatcttttgaaacacgttctgattaaccaagggt c.*60
. . . . . . g.146128
aagcatgttttggttgctaaagaaaaaagcataatctttaaccgagtataagtacttgct c.*120
. . . . . . g.146188
gtgtatttagtgtaaaagtacatgcagaaagatgaaacacaaagtaattgatgtatttct c.*180
. . . . . . g.146248
atcttttatattttttagtccaataattagcaaaatattactatgtacttaagagatacc c.*240
. . . . . . g.146308
tgtgtagtgtcgattatatgtcagttttttgcccattacttcatccctaaatcttcagca c.*300
. . . . . . g.146368
tgaacaaatattaatgtcgataataaaacattggactctttgaaatgtatgttaccatta c.*360
. . . . . . g.146428
atttctatttgacctctaaattgtaaaatgcctccaaaagtttatttatagaacaaaaat c.*420
. . . . . . g.146488
acatgaggatggatttgtacaaatgtataaaatgccactatttatacaccaagttcatag c.*480
. . . . . . g.146548
cagcattactggaatagcaaaagatggaaacagctcaagtgtctatcatgaatggataaa c.*540
. . . . . . g.146608
caaatgtgctataatacatacaatggaatattatttagctttaaaaaggaatgaaattct c.*600
. . . . . . g.146668
gataaatactacctcaggataaaccttgaaaacactatgctaagtgaaataagccagaca c.*660
. . . . . . g.146728
caaaaggccaaatatgatgccacttttatgaggtaccagcataggcaagttcacagaaac c.*720
. . . . . . g.146788
agaaaggagaatagtggttgccagggactgcagggaggaggaaatggggggtggggttat c.*780
. . . . . . g.146848
tgtttaacgagtacatagtttctgtttgggatgaacaaattctggaaatggatagcgatg c.*840
. . . . . . g.146908
atggttgctcaacattttgaatgttaatgccactaaattgtacccataaaaatggttaaa c.*900
. . . . . . g.146968
atggtaaattttgttatgtatattttatcataatttaaaaaatatatctagaatgggcaa c.*960
. . . . . . g.147028
gaaggattctcctcattcctctcttgacttgagaatgatcagtcaataggccctgaagtc c.*1020
. . . . . . g.147088
tgaatttgtgaaaatttccttgggtgacaaacttgtttgattactctatttagtgtatcc c.*1080
. . . . . . g.147148
caaagttattaccacataatcttttaaacaataaaacaaataccccttagaaagtcttct c.*1140
. . . . . . g.147208
gcaaacccatttctgaaaatggtacattatagggtgggtatagatgcatagatatgggat c.*1200
. . . . . . g.147268
tatgtatgatatatatatatatacacacacacacaaagggatagagagattacctctctt c.*1260
. . . . . . g.147328
aacccccattttaattactatgtctaggttttttaaataaaaatcttttctttttaacat c.*1320
. . . . . . g.147388
gtttcttttcttttccggaatattggaatattctgttcttgatccagatgaaatctgatt c.*1380
. . . . . . g.147448
gagcagtgtacttacaagttgtactgtgtatgtgtttcctatattgttatatttcaataa c.*1440
. . . . . . g.147508
gaagcttaaaatgtttaaaaataaatggttaaaaggttttatgttatgtatattttacca c.*1500
. . . g.147547
caataaatgcaaaaaataaaaagtctgtgttctaaacaa c.*1539
(downstream sequence)
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