(used for variant description)
(last modified November 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_025103.2 in the IFT74 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053083.1, covering IFT74 transcript NM_025103.2.
(upstream sequence)
. . . . g.14377
atcccgcccccgttgccgggatacgccgcggcgcacggcagtt c.-121
. . . . . . g.14437
agtgggtaggcctgagagccgaggaaaactgagcgtgggcctcagaaagaagttaaggca c.-61
. . . . . | 02 . g.19929
cccgcgagccgggcaactgccctccttccgcgccggcggag | cgattaaagtgaagaaaca c.-1
. . . . . . g.19989
ATGGCCAGCAATCACAAATCTTCAGCAGCTCGCCCTGTTTCAAGAGGTGGAGTTGGGTTA c.60
M A S N H K S S A A R P V S R G G V G L p.20
. . . . . . g.20049
ACAGGAAGGCCTCCTTCTGGGATACGACCCCTATCAGGAAATATTCGAGTGGCAACTGCA c.120
T G R P P S G I R P L S G N I R V A T A p.40
| 03 . . . . . . g.36149
| ATGCCACCTGGGACAGCAAGACCAGGTTCTCGTGGTTGTCCCATAGGGACTGGTGGAGTT c.180
| M P P G T A R P G S R G C P I G T G G V p.60
. . . . . . g.36209
CTGTCTTCTCAAATCAAAGTTGCCCATCGCCCTGTAACACAACAAGGTTTGACTGGAATG c.240
L S S Q I K V A H R P V T Q Q G L T G M p.80
. | 04 . . . . . g.38576
AAAACTGGGACGAAAG | GTCCCCAGAGGCAAATTTTAGACAAATCTTACTATCTTGGGCTT c.300
K T G T K G | P Q R Q I L D K S Y Y L G L p.100
| 05 . . . . . . g.42273
CTTAG | AAGTAAAATAAGTGAACTTACAACTGAAGTTAATAAACTTCAGAAGGGAATAGAA c.360
L R | S K I S E L T T E V N K L Q K G I E p.120
. . . . | 06 . . g.42476
ATGTACAATCAAGAGAATTCAGTATATTTGTCATATGAAAAGAG | GGCTGAGACTTTAGCT c.420
M Y N Q E N S V Y L S Y E K R | A E T L A p.140
. . . . | 07 . . g.46645
GTTGAGATAAAAGAGCTTCAAGGACAACTAGCAGACTACAACATG | TTGGTAGATAAACTT c.480
V E I K E L Q G Q L A D Y N M | L V D K L p.160
. . . . | 08 . . g.48110
AATACCAACACTGAAATGGAAGAAGTAATGAATGATTACAATATG | CTTAAAGCTCAAAAT c.540
N T N T E M E E V M N D Y N M | L K A Q N p.180
. . . . | 09. . g.66994
GATCGAGAAACACAAAGTTTGGATGTCATATTTACTGAAAGACAAGC | GAAAGAAAAACAA c.600
D R E T Q S L D V I F T E R Q A | K E K Q p.200
. . . . . . g.67054
ATCAGAAGTGTCGAAGAAGAAATTGAACAGGAAAAACAAGCAACAGATGACATTATCAAA c.660
I R S V E E E I E Q E K Q A T D D I I K p.220
. . . . . . g.67114
AATATGTCTTTTGAAAACCAAGTCAAGTACCTAGAGATGAAAACCACAAATGAGAAACTG c.720
N M S F E N Q V K Y L E M K T T N E K L p.240
| 10 . . . . . . g.69921
TTACAG | GAATTAGATACACTTCAACAACAATTGGATTCACAGAACATGAAAAAAGAGAGC c.780
L Q | E L D T L Q Q Q L D S Q N M K K E S p.260
| 11 . . . . . g.74919
CTGGAAGCA | GAAATAGCTCACTCCCAGGTGAAACAGGAGGCGGTATTGCTGCATGAAAAA c.840
L E A | E I A H S Q V K Q E A V L L H E K p.280
. . . . . . g.74979
CTTTATGAGTTGGAGTCCCATCGAGATCAAATGATTGCAGAAGACAAAAGCATAGGATCT c.900
L Y E L E S H R D Q M I A E D K S I G S p.300
. . . | 12 . . . g.76635
CCAATGGAAGAGAGAGAGAAATTACTTAAGCAG | ATTAAAGATGATAATCAGGAAATAGCC c.960
P M E E R E K L L K Q | I K D D N Q E I A p.320
. | 13 . . . . . g.87032
AGCATGGAAAGACA | GTTAACAGATACAAAAGAAAAGATAAATCAGTTTATTGAAGAAATT c.1020
S M E R Q | L T D T K E K I N Q F I E E I p.340
. . . | 14 . . . g.102729
AGACAACTTGACATGGATTTAGAGGAACACCAAG | GTGAAATGAACCAGAAATACAAGGAG c.1080
R Q L D M D L E E H Q G | E M N Q K Y K E p.360
. . | 15 . . . g.105267
CTAAAGAAAAGGGAGGAACATATGGACA | CTTTTATTGAGACTTTTGAGGAAACAAAGAAT c.1140
L K K R E E H M D T | F I E T F E E T K N p.380
. . . . . . g.105327
CAGGAACTGAAACGAAAGGCACAGATAGAAGCCAACATTGTTGCACTCTTGGAGCACTGC c.1200
Q E L K R K A Q I E A N I V A L L E H C p.400
| 16 . . . . . . g.106163
AGTCGA | AATATAAATCGTATAGAACAGATATCCTCTATCACCAATCAAGAGCTAAAGATG c.1260
S R | N I N R I E Q I S S I T N Q E L K M p.420
. . . . . . g.106223
ATGCAGGATGACCTCAATTTTAAATCTACTGAAGTGCAGAAATCACAAAGTACAGCTCAG c.1320
M Q D D L N F K S T E V Q K S Q S T A Q p.440
. | 17 . . . . . g.113617
AATTTGACTTCAG | ACATTCAACGTCTGCAGTTGGATCTGCAGAAAATGGAGCTTCTAGAA c.1380
N L T S D | I Q R L Q L D L Q K M E L L E p.460
. . . . . . g.113677
AGTAAGATGACTGAAGAACAGCATTCTCTAAAAAGCAAAATTAAGCAAATGACAACTGAT c.1440
S K M T E E Q H S L K S K I K Q M T T D p.480
. . . . . | 18. g.114298
CTGGAGATATATAATGATTTGCCAGCTTTAAAATCATCAGGTGAAGAAAAGATAAAG | AAA c.1500
L E I Y N D L P A L K S S G E E K I K | K p.500
. . . . . . g.114358
TTACATCAGGAGAGAATGATATTATCAACCCACAGAAATGCCTTTAAGAAAATAATGGAG c.1560
L H Q E R M I L S T H R N A F K K I M E p.520
. . . . . . g.114418
AAGCAAAACATAGAGTATGAGGCACTAAAAACACAATTGCAAGAAAATGAGACACATTCT c.1620
K Q N I E Y E A L K T Q L Q E N E T H S p.540
| 19 . . . . . . g.118609
CAG | CTTACAAATTTGGAGAGAAAGTGGCAACACCTTGAGCAAAATAATTTTGCGATGAAA c.1680
Q | L T N L E R K W Q H L E Q N N F A M K p.560
| 20 . . . . . . g.120635
GAAT | TCATAGCAACCAAGAGTCAAGAGAGTGATTACCAGCCAATTAAGAAAAATGTGACC c.1740
E F | I A T K S Q E S D Y Q P I K K N V T p.580
. . . . . . g.120695
AAGCAGATTGCAGAGTACAATAAAACCATCGTGGATGCTTTACATAGCACCAGCGGAAAC c.1800
K Q I A E Y N K T I V D A L H S T S G N p.600
g.120698
TGA c.1803
X p.600
. . . . . . g.120758
gtttaagtccactgaaagtctctaaggaagtatcctcttgctgctaaacttggtacaagt c.*60
. . . . . . g.120818
tgactaccaaaaaaaaaaaaagcttacttttggagtttacctaaaatttctgaatgttat c.*120
. . . . . . g.120878
aatttttgtggcctcttttaagaatgatattttaaaatagtaaatagttcaataaatggt c.*180
. g.120895
ttgcatattaaaaagta c.*197
(downstream sequence)
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