(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014055.3 in the IFT81 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052859.1, covering IFT81 transcript NM_014055.3.
(upstream sequence)
g.5008
gtaactct c.-541
. . . . . . g.5068
acggcctagcaaccgttgccaaggagctcgactctgggagcggtctagagcccgggcgcc c.-481
. . . . . . g.5128
tcctggggggtggggaaacggtttcgtgaggagaatttgaggtaacctcgccaactcgcg c.-421
. . . . . . g.5188
gtcggaagctcctctgaaccccgaaataggagagagctcccgtcctctctcggtcctgat c.-361
. . . . . . g.5248
gcagcacctcgcaagtggaaggggtcgtcgcggttaagcccccggataggggaatcgggc c.-301
. . . . . . g.5308
cccttctgggattcgagcggatccaggccgctccctggagggatgaactgtcgaggggcc c.-241
. . . . . . g.5368
cagggcagcccccgctagaggcccggtcgggtgtggggtcccctgtcccctgtcccgagc c.-181
. . . . . . g.5428
ccggggagggggacactatttctggtactcccaggaggctgcgggtcgatgctcgtgcca c.-121
. . . . . . g.5488
gcctgggacccaggcagcacggtttctctcccaaattgtgccagagaacacgcacgtcct c.-61
. . . . | 02 . g.8046
ggttttcattgttccccgcctcctgcgactcgtttgtgg | ttaaaattataagacctaatt c.-1
. . . . . . g.8106
ATGAGTGATCAAATTAAATTCATTATGGACAGTCTCAATAAGGAGCCCTTTAGGAAGAAC c.60
M S D Q I K F I M D S L N K E P F R K N p.20
. . . . . . g.8166
TATAATTTAATCACGTTTGATTCCTTGGAGCCAATGCAACTATTACAAGTTCTCAGTGAT c.120
Y N L I T F D S L E P M Q L L Q V L S D p.40
. . | 03 . . . . g.8747
GTTCTGGCTGAGATTGACCCAAAG | CAACTTGTGGATATCAGAGAGGAGATGCCAGAGCAG c.180
V L A E I D P K | Q L V D I R E E M P E Q p.60
. . . . . . g.8807
ACAGCCAAACGAATGTTGAGCCTTCTTGGTATTCTTAAGTACAAACCTTCAGGAAATGCC c.240
T A K R M L S L L G I L K Y K P S G N A p.80
| 04 . . . . . g.9667
ACAGATAT | GAGTACTTTTCGTCAGGGTTTGGTGATTGGAAGTAAACCTGTAATTTACCCA c.300
T D M | S T F R Q G L V I G S K P V I Y P p.100
. . . . . . g.9727
GTGCTCCACTGGCTTCTTCAGAGGACTAATGAACTGAAGAAAAGAGCATATTTAGCTCGT c.360
V L H W L L Q R T N E L K K R A Y L A R p.120
. . . . . . g.9787
TTTTTAATAAAACTTGAGGTACCAAGTGAGTTTCTTCAGGATGAAACTGTGGCTGACACC c.420
F L I K L E V P S E F L Q D E T V A D T p.140
| 05 . . . . . g.13263
AATAAACAG | TATGAAGAGTTAATGGAAGCCTTTAAAACTTTGCATAAAGAATATGAGCAG c.480
N K Q | Y E E L M E A F K T L H K E Y E Q p.160
. . . | 06 . . g.15634
CTCAAGATATCTGGATTTTCTACAGCAGAAATAAGAAAG | GATATCAGTGCAATGGAAGAA c.540
L K I S G F S T A E I R K | D I S A M E E p.180
. . . . | 07 . . g.16007
GAAAAGGATCAGCTCATTAAGAGAGTTGAACATTTGAAGAAAAGG | GTTGAGACAGCTCAG c.600
E K D Q L I K R V E H L K K R | V E T A Q p.200
. . . . . . g.16067
AATCATCAATGGATGCTTAAAATAGCAAGGCAACTTCGAGTTGAAAAAGAGAGAGAAGAA c.660
N H Q W M L K I A R Q L R V E K E R E E p.220
. . . | 08 . . . g.17465
TATCTTGCACAACAGAAACAGGAACAAAAGAATCAG | CTATTTCATGCAGTGCAAAGATTG c.720
Y L A Q Q K Q E Q K N Q | L F H A V Q R L p.240
. . . . . . g.17525
CAAAGAGTACAAAACCAGCTGAAAAGCATGCGCCAAGCTGCAGCAGATGCAAAGCCTGAA c.780
Q R V Q N Q L K S M R Q A A A D A K P E p.260
| 09 . . . . . . g.24106
A | GTTTAATGAAGAGGCTAGAGGAGGAGATAAAATTTAATTTATATATGGTAACTGAAAAA c.840
S | L M K R L E E E I K F N L Y M V T E K p.280
. . . . . . g.24166
TTTCCTAAAGAATTAGAAAATAAGAAAAAGGAATTACATTTTTTACAAAAAGTAGTTTCA c.900
F P K E L E N K K K E L H F L Q K V V S p.300
. . . . | 10 . . g.27633
GAGCCAGCTATGGGCCATTCTGATCTTCTTGAACTTGAATCTAAA | ATAAATGAAATAAAC c.960
E P A M G H S D L L E L E S K | I N E I N p.320
. . . . . . g.27693
ACAGAAATTAACCAGTTGATTGAAAAGAAAATGATGAGAAATGAGCCCATTGAAGGCAAA c.1020
T E I N Q L I E K K M M R N E P I E G K p.340
. . | 11 . . . . g.43623
CTCTCACTGTATAGGCAACAG | GCATCTATCATTTCCCGTAAAAAAGAAGCCAAAGCTGAG c.1080
L S L Y R Q Q | A S I I S R K K E A K A E p.360
. . . . . . g.43683
GAACTTCAGGAGGCCAAGGAGAAGTTAGCCAGCCTAGAGAGAGAAGCATCAGTAAAGAGA c.1140
E L Q E A K E K L A S L E R E A S V K R p.380
. . . . | 12 . g.61099
AATCAGACCCGTGAATTTGATGGTACTGAAGTTTTAAAGGGAGATGAG | TTCAAACGATAT c.1200
N Q T R E F D G T E V L K G D E | F K R Y p.400
. . . . . . g.61159
GTCAATAAACTTCGAAGCAAGAGTACAGTTTTCAAAAAGAAGCATCAGATAATAGCTGAA c.1260
V N K L R S K S T V F K K K H Q I I A E p.420
. . . . . . g.61219
CTTAAAGCTGAATTCGGTCTTTTGCAGAGGACTGAAGAACTTCTTAAGCAACGTCATGAA c.1320
L K A E F G L L Q R T E E L L K Q R H E p.440
. | 13 . . . . g.71627
AATATTCAACAACAACTG | CAAACTATGGAGGAGAAAAAGGGTATATCTGGATATAGTTAC c.1380
N I Q Q Q L | Q T M E E K K G I S G Y S Y p.460
. . . . . . g.71687
ACCCAAGAAGAGCTAGAAAGAGTATCTGCACTGAAGAGTGAAGTTGATGAAATGAAAGGA c.1440
T Q E E L E R V S A L K S E V D E M K G p.480
. . | 14. . . . g.73315
CGAACATTGGATGATATGTCTGAAATG | GTGAAAAAACTGTATTCATTGGTATCTGAAAAG c.1500
R T L D D M S E M | V K K L Y S L V S E K p.500
. . . . . | 15. g.84532
AAGTCAGCTCTTGCCTCAGTTATAAAAGAGCTACGACAGTTGCGTCAAAAATATCAA | GAA c.1560
K S A L A S V I K E L R Q L R Q K Y Q | E p.520
. . . . . . g.84592
CTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAA c.1620
L T Q E C D E K K S Q Y D S C A A G L E p.540
. . | 16 . . . . g.86144
AGCAATCGGTCCAAATTAGAACAG | GAAGTTAGAAGACTCCGTGAAGAATGTCTTCAAGAA c.1680
S N R S K L E Q | E V R R L R E E C L Q E p.560
. . . | 17 . . . g.86284
GAAAGTAGATACCATTATACAAATTGTATGATTAAG | AACCTAGAAGTTCAACTTCGTCGT c.1740
E S R Y H Y T N C M I K | N L E V Q L R R p.580
. . . . . . g.86344
GCTACTGATGAGATGAAGGCATATATCTCTTCTGATCAACAAGAAAAAAGAAAGGCAATT c.1800
A T D E M K A Y I S S D Q Q E K R K A I p.600
| 18 . . . . | 19 . g.98721
AG | GGAACAGTATACCAAAAATACTGCTGAACAAGAAAACCTTGGAAAG | AAACTTCGGGAA c.1860
R | E Q Y T K N T A E Q E N L G K | K L R E p.620
. . . . . . g.98781
AAACAAAAAGTTATACGAGAAAGTCATGGTCCAAATATGAAACAAGCAAAAATGTGGCGT c.1920
K Q K V I R E S H G P N M K Q A K M W R p.640
. . . . . . g.98841
GATTTGGAACAATTAATGGAATGTAAGAAACAGTGCTTTCTGAAACAACAAAGCCAAACT c.1980
D L E Q L M E C K K Q C F L K Q Q S Q T p.660
. . . . . g.98892
TCCATTGGTCAGGTAATTCAGGAGGGTGGGGAGGACCGGCTAATACTGTGA c.2031
S I G Q V I Q E G G E D R L I L X p.676
. . . . . . g.98952
attcttgtgtcatcgtttggggttttacttgataccactagctataagcctaatctcata c.*60
. . . . . . g.99012
atgtatttcttttttgaaactgatttgtatagcattttgttttcagaagagccattcttt c.*120
. . . . . . g.99072
attaagttttcatagaaaataatgttaaggtagatttagtttgaatgttttttcatatga c.*180
. . . . . . g.99132
aaaagaggcttttattcttttccatagtttagacatcactggcgtcttctgagttttatg c.*240
. . . . . . g.99192
agacaggaaactaagtttactatctgtaaatgtaaacatatgtccattaagaaacatgta c.*300
. . . . . . g.99252
gtttttttttagaatgtaataacccagtggcttactgtttttcttaatctcttttaaaaa c.*360
. . . . . . g.99312
aactttagaagaatcttttaggaactaatatctcttgttctgaagaaacatttatctgac c.*420
. . . . . . g.99372
gttcagcagttcctacagttttacttcagtttatttttcttctgtaaaatgcaagaaaat c.*480
. . . . . . g.99432
ttaatattttgactaacatgtcttttctgtttgtatcatttaaaggcaaataaacttggt c.*540
. . g.99461
acgtatttcatatctatttaaaaaatgta c.*569
(downstream sequence)
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