(used for variant description)
(last modified October 6, 2014)
This file was created to facilitate the description of sequence variants in the FANCF gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007425.1 (identical to LRG_527), covering FANCF transcript NM_022725.3.
(upstream sequence)
. . . g.5031
tgaaagcggaagtagggccttcgcgcacctc c.-1
. . . . . . g.5091
ATGGAATCCCTTCTGCAGCACCTGGATCGCTTTTCCGAGCTTCTGGCGGTCTCAAGCACT c.60
M E S L L Q H L D R F S E L L A V S S T p.20
. . . . . . g.5151
ACCTACGTCAGCACCTGGGACCCCGCCACCGTGCGCCGGGCCTTGCAGTGGGCGCGCTAC c.120
T Y V S T W D P A T V R R A L Q W A R Y p.40
. . . . . . g.5211
CTGCGCCACATCCATCGGCGCTTTGGTCGGCATGGCCCCATTCGCACGGCTCTGGAGCGG c.180
L R H I H R R F G R H G P I R T A L E R p.60
. . . . . . g.5271
CGGCTGCACAACCAGTGGAGGCAAGAGGGCGGCTTTGGGCGGGGTCCAGTTCCGGGATTA c.240
R L H N Q W R Q E G G F G R G P V P G L p.80
. . . . . . g.5331
GCGAACTTCCAGGCCCTCGGTCACTGTGACGTCCTGCTCTCTCTGCGCCTGCTGGAGAAC c.300
A N F Q A L G H C D V L L S L R L L E N p.100
. . . . . . g.5391
CGGGCCCTCGGGGATGCAGCTCGTTACCACCTGGTGCAGCAACTCTTTCCCGGCCCGGGC c.360
R A L G D A A R Y H L V Q Q L F P G P G p.120
. . . . . . g.5451
GTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCTGGCCCGCCTTGCCCGCCGGCGG c.420
V R D A D E E T L Q E S L A R L A R R R p.140
. . . . . . g.5511
TCTGCGGTGCACATGCTGCGCTTCAATGGCTATAGAGAGAACCCAAATCTCCAGGAGGAC c.480
S A V H M L R F N G Y R E N P N L Q E D p.160
. . . . . . g.5571
TCTCTGATGAAGACCCAGGCGGAGCTGCTGCTGGAGCGTCTGCAGGAGGTGGGGAAGGCC c.540
S L M K T Q A E L L L E R L Q E V G K A p.180
. . . . . . g.5631
GAAGCGGAGCGTCCCGCCAGGTTTCTCAGCAGCCTGTGGGAGCGCTTGCCTCAGAACAAC c.600
E A E R P A R F L S S L W E R L P Q N N p.200
. . . . . . g.5691
TTCCTGAAGGTGATAGCGGTGGCGCTGTTGCAGCCGCCTTTGTCTCGTCGGCCCCAAGAA c.660
F L K V I A V A L L Q P P L S R R P Q E p.220
. . . . . . g.5751
GAGTTGGAACCCGGCATCCACAAATCACCTGGAGAGGGGAGCCAAGTGCTAGTCCACTGG c.720
E L E P G I H K S P G E G S Q V L V H W p.240
. . . . . . g.5811
CTTCTGGGGAATTCGGAAGTCTTTGCTGCCTTTTGTCGCGCCCTCCCAGCCGGGCTTTTG c.780
L L G N S E V F A A F C R A L P A G L L p.260
. . . . . . g.5871
ACTTTAGTGACTAGCCGCCACCCAGCGCTGTCTCCTGTCTATCTGGGTCTGCTAACAGAC c.840
T L V T S R H P A L S P V Y L G L L T D p.280
. . . . . . g.5931
TGGGGTCAACGTTTGCACTATGACCTTCAGAAAGGCATTTGGGTTGGAACTGAGTCCCAA c.900
W G Q R L H Y D L Q K G I W V G T E S Q p.300
. . . . . . g.5991
GATGTGCCCTGGGAGGAGTTGCACAATAGGTTTCAAAGCCTCTGTCAGGCCCCTCCACCT c.960
D V P W E E L H N R F Q S L C Q A P P P p.320
. . . . . . g.6051
CTGAAAGATAAAGTTCTAACTGCCCTGGAGACCTGTAAAGCGCAGGATGGAGATTTTGAA c.1020
L K D K V L T A L E T C K A Q D G D F E p.340
. . . . . . g.6111
GTACCTGGTCTTAGCATCTGGACAGACCTCTTATTAGCTCTTCGTAGTGGTGCATTTAGG c.1080
V P G L S I W T D L L L A L R S G A F R p.360
. . . . g.6156
AAAAGACAAGTTTTGGGTCTCAGCGCAGGCCTCAGTTCTGTATAG c.1125
K R Q V L G L S A G L S S V X p.374
. . . . . . g.6216
gcaatgctgtgttattacttgaatatagaatatatagtttacaaaatgaaaattacaatg c.*60
. . . . . . g.6276
ttctcaccaaatatatgccttcgtgtgtccaaagtataattattttagatgctaattttg c.*120
. . . . . . g.6336
aatagtttattaaacagttataaatatgcaaagtagctggcatgtagtgtcacggatttt c.*180
. . . . . . g.6396
ctggatagaggaagtgattggaagtactccacttaaagccatggaattagcaatagtttg c.*240
. . . . . . g.6456
ctttttaatagaaggcccatttgtaagaatgttgaaaatatgtgtaccgtttaaagaaaa c.*300
. . . . . . g.6516
agcagctttaaagtgacaaacaaaataccctttttcttttagtatggtttatttttctag c.*360
. . . . . . g.6576
gttttctgtccctccctcagtagtgaagagttttctttattcctggcagtgtcaggaata c.*420
. . . . . . g.6636
ttggtttgaaaagctgttggcctatctggagtttggccttgttaacctagtattctaacc c.*480
. . . . . . g.6696
agttaaccagccttagtatgcattaaaattgtattgttcagaaagtttgtttctcatttt c.*540
. . . . . . g.6756
ctgcaaattcttactttgaaaatgaatcaccacatagtatgtccctttaaagcattgacg c.*600
. . . . . . g.6816
cacagacaaatgtttaaagcacagtaaatacgaatatatgcctttggatattaaattaat c.*660
. . . . . . g.6876
gcttgatgataaaagaatcaaacttttttttttttgagatggagtctcgctctgtcaccc c.*720
. . . . . . g.6936
agactggagtgcagtggtgtgatcactgctcagtgcaacctctgcctcccaggatcaagc c.*780
. . . . . . g.6996
aattctgactcagcctcccaagtagctgggattacaggcgcaggccaccatgcccggcta c.*840
. . . . . . g.7056
attttttgtatttttagtagagacggggtttcaccatgctggccaggctggtctcaaaca c.*900
. . . . . . g.7116
cctgaccttgtgatccgtccgccttggcctcccaaagtgctgggattacaggcgtgagcc c.*960
. . . . . . g.7176
accgcgcctggccaaaacaacattttaagtagaagatccaggttttagtgcagcttctgc c.*1020
. . . . . . g.7236
cgttaactaggttaataaatcacaaccttggggccacagttgccttatatgtaaatgaag c.*1080
. . . . . . g.7296
tgtttagaataaaatagttaaatttccttatttttcccttggtggctgccctgtggaaac c.*1140
. . . . . . g.7356
agtttagaatatttgttttgtgtgtaggaacctagttgtgttagtttacctgggtgttcc c.*1200
. . . . . . g.7416
acagctgatagtgattgccttgaataaattcaagggcaatttattcatttttactaggga c.*1260
. . . . . . g.7476
gatagacctttacagcaatcaagatatttttgtccatatccaggttagctggtaagagga c.*1320
. . . . . . g.7536
tttttttggagaaaaaaatgatatttagaaagttaatttctaattccggaatggaataaa c.*1380
. . . . . . g.7596
aacaatatgagtagtgtaatcttgtagaaaaagagttgtataatcttgtagaatttctca c.*1440
. . . . . . g.7656
ttctgtggtacaacccaggggtaaactattattccagtagtcagtacacttttctagata c.*1500
. . . . . . g.7716
aatcttgagtgaaaaccagcaatttctttttccttgtggtctgattcctttttctaatcc c.*1560
. . . . . . g.7776
atgaaggccatcttgtagattacatttatcattaatgcaagaataaagacaattcctcct c.*1620
. . . . . . g.7836
gtcagttgcgtgaattttttttaagaaacaacccagtgaagagttctaccatagcaaggc c.*1680
. . . . . . g.7896
ctaatgttagctttagctttagaaaataacagtttgtgaacttacttccctatatttgca c.*1740
. . . . . . g.7956
gctgtatctcacactatgatttacaataaaattgtaaagattgacaatagacttaagaaa c.*1800
. . . . . . g.8016
taacattttaaaatctattttatacttaccatttattattctgttattttagtctccata c.*1860
. . . . . . g.8076
tgttcattacatacataatcttatttaatcttcacaccaaaactgtattcttatgaatat c.*1920
. . . . . . g.8136
acgctaaaagattaagtaaaatgcccaagggtataaacaaaagcaacatgaaagtggaag c.*1980
. . . . . . g.8196
ccgtatctgtcatttattttatttccagaagcctagcacagtgtccagcatatggtagat c.*2040
. . . . . . g.8256
acttgtagtgtttgaataaatgaaaccagcattagagctttatatactttctcttaagga c.*2100
. . . . . g.8309
cttgaaaagattaggaatctacgcatacactgagagagaaaaaagtgagagga c.*2153
(downstream sequence)
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