(used for variant description)
(last modified January 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_052985.2 in the IFT122 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023392.1, covering IFT122 transcript NM_052985.2.
(upstream sequence)
. . g.5026
attgcttttgctgcttttctggcttt c.-181
. . . . . . g.5086
ccctttcggacatgcgcgctcggagcaaggcgccctcgcactcagcttaccgcgcatgta c.-121
. . . . . . g.5146
cgttgccaggggtaacgcaggtagccaaagtggcttgtggagtggcgaccgttagtgagg c.-61
. . . . . . g.5206
cggttgctgagacagacgctgaggcgggtaggaggagcccgagccgtaagggaagccgtg c.-1
. . . . | 02 . . g.14765
ATGAGGGCCGTGTTGACGTGGAGAGATAAAGCCGAGCACTG | TATAAATGACATCGCATTT c.60
M R A V L T W R D K A E H C | I N D I A F p.20
. . . . | 03 . g.16801
AAGCCTGATGGAACTCAACTGATTTTGGCTGCCGGAAGCAGATTACTG | GTTTATGACACC c.120
K P D G T Q L I L A A G S R L L | V Y D T p.40
. . . . . . g.16861
TCTGATGGCACCTTACTTCAGCCCCTCAAGGGACACAAAGACACTGTGTACTGTGTGGCA c.180
S D G T L L Q P L K G H K D T V Y C V A p.60
. | 04 . . . . . g.23521
TATGCGAAGGATG | GCAAGCGCTTTGCTTCTGGATCAGCTGACAAAAGCGTTATTATCTGG c.240
Y A K D G | K R F A S G S A D K S V I I W p.80
. . . | 05 . . . g.25757
ACATCAAAACTGGAAGGCATTCTGAAGTACAC | ATCTTGGTCTGTGATGTCTTCATTGCAC c.300
T S K L E G I L K Y T | S W S V M S S L H p.100
. . . . . . g.25817
CTCCATCTTCCATTTCTGGGCCTCCACAAAACAGTAAGAGTAACAGCCACAGATAAAGCA c.360
L H L P F L G L H K T V R V T A T D K A p.120
. . . . . . g.25877
CCTAAAGGCCAAGGTGGGAGGATTGATTGCTTGAGGCCAAGCGTTCAAAACCAACCTGGC c.420
P K G Q G G R I D C L R P S V Q N Q P G p.140
| 06 . . . . . . g.26158
CAAAA | GCACAATGATGCTATACAATGTGTCTCCTACAATCCTATTACTCATCAACTGGCA c.480
Q K | H N D A I Q C V S Y N P I T H Q L A p.160
. . | 07 . . . . g.28473
TCTTGTTCCTCCAGTGACTTTG | GGTTGTGGTCTCCTGAACAGAAGTCTGTCTCCAAACAC c.540
S C S S S D F G | L W S P E Q K S V S K H p.180
. . | 08 . . . g.29541
AAATCAAGCAGCAAGATCATCTGCTGCAG | CTGGACAAATGATGGTCAGTACCTGGCGCTG c.600
K S S S K I I C C S | W T N D G Q Y L A L p.200
. . . . . . g.29601
GGGATGTTCAATGGGATCATCAGCATACGGAACAAAAATGGCGAGGAGAAAGTAAAGATC c.660
G M F N G I I S I R N K N G E E K V K I p.220
. . . . . | 09 . g.31769
GAGCGGCCGGGGGGCTCCCTCTCGCCAATATGGTCCATCTGCTGGAACCCTTCAAG | CCGA c.720
E R P G G S L S P I W S I C W N P S S | R p.240
. . . . . . g.31829
TGGGAGAGTTTCTGGATGAACAGAGAGAATGAGGATGCCGAGGATGTCATTGTCAACAGA c.780
W E S F W M N R E N E D A E D V I V N R p.260
. . . . . . g.31889
TATATTCAGGAAATCCCTTCCACTCTGAAGTCAGCAGTGTACAGTAGTCAGGGTAGTGAG c.840
Y I Q E I P S T L K S A V Y S S Q G S E p.280
. . . . . | 10 . g.34224
GCAGAGGAGGAAGAACCAGAGGAAGAGGACGACAGTCCCAGGGACGACAACTT | AGAGGAA c.900
A E E E E P E E E D D S P R D D N L | E E p.300
. . . . . . g.34284
CGTAATGACATCCTGGCTGTGGCTGACTGGGGACAGAAAGTTTCCTTCTACCAGCTGAGT c.960
R N D I L A V A D W G Q K V S F Y Q L S p.320
| 11 . . . . . g.41241
GGAAAACAG | ATTGGAAAGGATCGGGCACTGAACTTTGACCCCTGCTGCATCAGCTACTTT c.1020
G K Q | I G K D R A L N F D P C C I S Y F p.340
. . . . . . g.41301
ACTAAAGGCGAGTACATTTTGCTGGGGGGTTCAGACAAGCAAGTATCTCTTTTCACCAAG c.1080
T K G E Y I L L G G S D K Q V S L F T K p.360
. . . . . . g.41361
GATGGAGTGCGGCTTGGGACTGTTGGGGAGCAGAACTCCTGGGTGTGGACGTGTCAAGCG c.1140
D G V R L G T V G E Q N S W V W T C Q A p.380
. . | 12 . . . . g.41577
AAACCGGATTCCAACTATGTG | GTGGTCGGCTGCCAGGACGGCACCATTTCCTTCTACCAG c.1200
K P D S N Y V | V V G C Q D G T I S F Y Q p.400
. . . . . . g.41637
CTTATTTTCAGCACAGTCCATGGGCTTTACAAGGACCGCTATGCCTACAGGGATAGCATG c.1260
L I F S T V H G L Y K D R Y A Y R D S M p.420
. . . . | 13 . . g.42911
ACTGACGTCATTGTGCAGCACCTGATCACTGAGCAGAAAG | TTCGGATTAAATGCAAAGAG c.1320
T D V I V Q H L I T E Q K V | R I K C K E p.440
. . . . . . g.42971
CTTGTCAAGAAGATTGCCATCTACAGAAATCGATTGGCTATCCAACTGCCAGAGAAAATC c.1380
L V K K I A I Y R N R L A I Q L P E K I p.460
. . . . . . g.43031
CTCATCTATGAGTTGTATTCAGAGGACTTATCAGACATGCATTACCGGGTAAAGGAGAAG c.1440
L I Y E L Y S E D L S D M H Y R V K E K p.480
. . . . . . g.43091
ATTATCAAGAAGTTTGAGTGCAACCTCCTGGTGGTGTGTGCCAATCACATCATCCTGTGC c.1500
I I K K F E C N L L V V C A N H I I L C p.500
| 14 . . . . . . g.44717
CAG | GAGAAACGGCTGCAGTGCCTGTCCTTCAGCGGAGTGAAGGAGCGGGAGTGGCAGATG c.1560
Q | E K R L Q C L S F S G V K E R E W Q M p.520
. . . . . . g.44777
GAGTCTCTCATTCGTTACATCAAGGTGATCGGTGGCCCTCCTGGAAGAGAAGGCCTCTTA c.1620
E S L I R Y I K V I G G P P G R E G L L p.540
. . | 15 . . . . g.46444
GTGGGGCTGAAGAATGGACAG | ATCCTGAAGATCTTCGTGGACAATCTCTTTGCTATCGTC c.1680
V G L K N G Q | I L K I F V D N L F A I V p.560
. . . . . . g.46504
CTGCTGAAGCAGGCCACAGCTGTGCGCTGCTTGGACATGAGTGCCTCCCGTAAGAAGCTG c.1740
L L K Q A T A V R C L D M S A S R K K L p.580
. . . . . . g.46564
GCCGTGGTAGATGAAAATGACACTTGCCTGGTGTATGACATCGACACCAAGGAGCTGCTT c.1800
A V V D E N D T C L V Y D I D T K E L L p.600
| 16 . . . . . . g.48414
TTTCAG | GAACCAAACGCCAACAGTGTAGCTTGGAACACCCAGTGTGAGGACATGCTCTGC c.1860
F Q | E P N A N S V A W N T Q C E D M L C p.620
. . . . . . g.48474
TTCTCGGGAGGAGGCTACCTCAACATCAAAGCCAGCACCTTCCCTGTGCACCGGCAGAAG c.1920
F S G G G Y L N I K A S T F P V H R Q K p.640
. . . . . . g.48534
CTGCAGGGCTTTGTGGTCGGCTACAATGGCTCCAAGATCTTCTGCCTCCATGTCTTCTCC c.1980
L Q G F V V G Y N G S K I F C L H V F S p.660
. . | 17 . . . . g.53168
ATTTCTGCCGTGGAGGTGCCGCAG | TCCGCTCCCATGTACCAGTACCTGGATAGGAAACTG c.2040
I S A V E V P Q | S A P M Y Q Y L D R K L p.680
. . . . . . g.53228
TTCAAGGAAGCCTACCAGATTGCTTGCTTGGGTGTCACAGACACTGATTGGCGTGAACTG c.2100
F K E A Y Q I A C L G V T D T D W R E L p.700
. . . . | 18 . . g.57031
GCCATGGAAGCGCTAGAAGGTTTAGATTTTGAAACAGCAAAGAAG | GCCTTCATCAGAGTA c.2160
A M E A L E G L D F E T A K K | A F I R V p.720
. . . | 19 . . g.60342
CAAGACCTCCGATATTTAGAGCTCATCAGCAGCATTGAG | GAGAGGAAGAAGCGGGGAGAG c.2220
Q D L R Y L E L I S S I E | E R K K R G E p.740
. . . . . . g.60402
ACCAACAATGACCTGTTTCTGGCAGATGTGTTTTCCTACCAGGGGAAGTTCCATGAGGCC c.2280
T N N D L F L A D V F S Y Q G K F H E A p.760
. . . . . . g.60462
GCCAAACTGTACAAGAGGAGTGGGCACGAGAACCTCGCGCTTGAAATGTACACCGACCTC c.2340
A K L Y K R S G H E N L A L E M Y T D L p.780
. . | 20 . . . . g.64816
TGCATGTTTGAGTATGCCAAG | GATTTCCTTGGATCTGGAGACCCCAAAGAAACAAAGATG c.2400
C M F E Y A K | D F L G S G D P K E T K M p.800
. . . . . . g.64876
CTAATCACCAAACAGGCTGACTGGGCCAGAAATATCAAGGAGCCCAAAGCCGCCGTGGAG c.2460
L I T K Q A D W A R N I K E P K A A V E p.820
. . . . . . g.64936
ATGTACATCTCAGCAGGAGAGCACGTCAAGGCCATCGAGATCTGTGGTGACCATGGCTGG c.2520
M Y I S A G E H V K A I E I C G D H G W p.840
| 21 . . . . . g.67638
GTTGACAT | GTTGATCGACATCGCCCGCAAACTGGACAAGGCTGAGCGCGAGCCCCTGCTG c.2580
V D M | L I D I A R K L D K A E R E P L L p.860
. . . . . . g.67698
CTGTGCGCTACCTACCTCAAGAAGCTGGACAGCCCTGGCTATGCTGCTGAGACCTACCTG c.2640
L C A T Y L K K L D S P G Y A A E T Y L p.880
. . . . . . g.67758
AAGATGGGTGACCTCAAGTCCCTGGTGCAGCTGCACGTGGAGACCCAGCGCTGGGATGAG c.2700
K M G D L K S L V Q L H V E T Q R W D E p.900
| 22 . . . . . . g.69254
| GCCTTTGCTTTGGGTGAGAAGCATCCTGAGTTTAAGGATGACATCTACATGCCGTATGCT c.2760
| A F A L G E K H P E F K D D I Y M P Y A p.920
. . . . | 23 . . g.71301
CAGTGGCTAGCAGAGAACGATCGCTTTGAGGAAGCCCAGAAAG | CGTTCCACAAGGCTGGG c.2820
Q W L A E N D R F E E A Q K A | F H K A G p.940
. . . . . . g.71361
CGACAGAGAGAAGCGGTCCAGGTGCTGGAGCAGCTCACAAACAATGCCGTGGCGGAGAGC c.2880
R Q R E A V Q V L E Q L T N N A V A E S p.960
. . . . . . g.71421
AGGTTTAATGATGCTGCCTATTATTACTGGATGCTGTCCATGCAGTGCCTCGATATAGCT c.2940
R F N D A A Y Y Y W M L S M Q C L D I A p.980
| 24 . . . . . . g.72599
CAAG | ATCCTGCCCAGAAGGACACAATGCTTGGCAAGTTCTACCACTTCCAGCGTTTGGCA c.3000
Q D | P A Q K D T M L G K F Y H F Q R L A p.1000
. . . | 25 . . g.77208
GAGCTGTACCATGGTTACCATGCCATCCATCGCCACACG | GAAGATCCGTTCAGTGTCCAT c.3060
E L Y H G Y H A I H R H T | E D P F S V H p.1020
. . . . . . g.77268
CGTCCTGAAACTCTTTTCAACATCTCCAGGTTCCTGCTGCACAGCCTGCCCAAGGACACC c.3120
R P E T L F N I S R F L L H S L P K D T p.1040
. . | 26 . . . . g.79304
CCCTCGGGCATCTCTAAAGT | GAAAATACTCTTCACCTTGGCCAAGCAGAGCAAGGCCCTC c.3180
P S G I S K V | K I L F T L A K Q S K A L p.1060
. . . . . . g.79364
GGTGCCTACAGGCTGGCCCGGCACGCCTATGACAAGCTGCGTGGCCTGTACATCCCTGCC c.3240
G A Y R L A R H A Y D K L R G L Y I P A p.1080
. . . . . . g.79424
AGATTCCAAAAGTCCATTGAGCTGGGTACCCTGACCATCCGCGCCAAGCCCTTCCACGAC c.3300
R F Q K S I E L G T L T I R A K P F H D p.1100
| 27 . . . . . . g.80417
AGTGAG | GAGTTGGTGCCCTTGTGCTACCGCTGCTCCACCAACAACCCGCTGCTCAACAAC c.3360
S E | E L V P L C Y R C S T N N P L L N N p.1120
. . . . . | 28 g.82346
CTGGGCAACGTCTGCATCAACTGCCGCCAGCCCTTCATCTTCTCCGCCTCTTCCTACG | AC c.3420
L G N V C I N C R Q P F I F S A S S Y D | p.1140
. . . . . . g.82406
GTGCTACACCTGGTTGAGTTCTACCTGGAGGAAGGGATCACTGATGAAGAAGCCATCTCC c.3480
V L H L V E F Y L E E G I T D E E A I S p.1160
. . . . . . g.82466
CTCATCGACCTGGAGGTGCTGAGACCCAAGCGGGATGACAGACAGCTAGAGATTGCAAAC c.3540
L I D L E V L R P K R D D R Q L E I A N p.1180
| 29 . . . . . . g.84038
AACA | GCTCCCAGATTCTGCGGCTAGTGGAGACCAAGGACTCCATCGGAGATGAGGACCCG c.3600
N S | S Q I L R L V E T K D S I G D E D P p.1200
. . | 30 . . . . g.84479
TTCACAGCTAAGCTGAGCTTTGAG | CAAGGTGGCTCAGAGTTCGTGCCAGTGGTGGTGAGC c.3660
F T A K L S F E | Q G G S E F V P V V V S p.1220
. . . . . . g.84539
CGGCTGGTGCTGCGCTCCATGAGCCGCCGGGATGTCCTCATCAAGCGATGGCCCCCACCC c.3720
R L V L R S M S R R D V L I K R W P P P p.1240
. . . . . . g.84599
CTGAGGTGGCAATACTTCCGCTCACTGCTGCCTGACGCCTCCATTACCATGTGCCCCTCC c.3780
L R W Q Y F R S L L P D A S I T M C P S p.1260
| 31 . . . . . g.85102
TGCTTCCAG | ATGTTCCATTCTGAGGACTATGAGTTGCTGGTGCTTCAGCATGGCTGCTGC c.3840
C F Q | M F H S E D Y E L L V L Q H G C C p.1280
. . . g.85141
CCCTACTGCCGCAGGTGCAAGGATGACCCTGGCCCATGA c.3879
P Y C R R C K D D P G P X p.1292
. . . . . . g.85201
ccagcatcctggggacggcctgcaccctctgcccgccttggggtctgctgggctgtgaag c.*60
. . g.85224
gagaataaagagttaaactgtca c.*83
(downstream sequence)
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