(used for variant description)
(last modified October 6, 2014)
This file was created to facilitate the description of sequence variants in the FANCE gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_011707.1 (identical to LRG_497), covering FANCE transcript NM_000136.2.
(upstream sequence)
. . g.5022
agaatgcactgctgacacgtgt c.-241
. . . . . . g.5082
gcgcgcgcgcggctccactgccgggcgaccgcgggaaaattccaaaaaaactcaaaaagc c.-181
. . . . . . g.5142
caatacgaggcaaagccaaattttcaagccacagatcccgggcggtggcttcctttccgc c.-121
. . . . . | 02 . g.73358
cactgcccaaactgctgaagcagctcccgcgaggaccacccg | atttaatgtgtgccgacc c.-61
. . . . . . g.73418
atttccttcagtgctggacaggctgctgtgaagggacatcaccttttcgctttttccaag c.-1
. . . . . . g.73478
ATGGCTCAAGATTCAGTAGATCTTTCTTGTGATTATCAGTTTTGGATGCAGAAGCTTTCT c.60
M A Q D S V D L S C D Y Q F W M Q K L S p.20
. . . . . . g.73538
GTATGGGATCAGGCTTCCACTTTGGAAACCCAGCAAGACACCTGTCTTCACGTGGCTCAG c.120
V W D Q A S T L E T Q Q D T C L H V A Q p.40
. . . . | 03 . . g.75208
TTCCAGGAGTTCCTAAGGAAGATGTATGAAGCCTTGAAAGAGATG | GATTCTAATACAGTC c.180
F Q E F L R K M Y E A L K E M | D S N T V p.60
. . . . . . g.75268
ATTGAAAGATTCCCCACAATTGGTCAACTGTTGGCAAAAGCTTGTTGGAATCCTTTTATT c.240
I E R F P T I G Q L L A K A C W N P F I p.80
. | 04 . . . . . g.82016
TTAGCATATG | ATGAAAGCCAAAAAATTCTAATATGGTGCTTATGTTGTCTAATTAACAAA c.300
L A Y D | E S Q K I L I W C L C C L I N K p.100
. . . . | 05 . . g.150577
GAACCACAGAATTCTGGACAATCAAAACTTAACTCCTGGATACAG | GGTGTATTATCTCAT c.360
E P Q N S G Q S K L N S W I Q | G V L S H p.120
. . . . . . g.150637
ATACTTTCAGCACTCAGATTTGATAAAGAAGTTGCTCTTTTCACTCAAGGTCTTGGGTAT c.420
I L S A L R F D K E V A L F T Q G L G Y p.140
. . . | 06 . . . g.151590
GCACCTATAGATTACTATCCTGGTTTGCTTAAAAAT | ATGGTTTTATCATTAGCGTCTGAA c.480
A P I D Y Y P G L L K N | M V L S L A S E p.160
. . . . | 07 . . g.172641
CTCAGAGAGAATCATCTTAATGGATTTAACACTCAAAGGCG | AATGGCTCCCGAGCGAGTG c.540
L R E N H L N G F N T Q R R | M A P E R V p.180
. . . . . . g.172701
GCGTCCCTGTCACGAGTTTGTGTCCCACTTATTACCCTGACAGATGTTGACCCCCTGGTG c.600
A S L S R V C V P L I T L T D V D P L V p.200
. . . . . . g.172761
GAGGCTCTCCTCATCTGTCATGGACGTGAACCTCAGGAAATCCTCCAGCCAGAGTTCTTT c.660
E A L L I C H G R E P Q E I L Q P E F F p.220
. . | 08 . . . . g.187241
GAGGCTGTAAACGAGGCCATTTTGCT | GAAGAAGATTTCTCTCCCCATGTCAGCTGTAGTC c.720
E A V N E A I L L | K K I S L P M S A V V p.240
. . . . . . g.187301
TGCCTCTGGCTTCGGCACCTTCCCAGCCTTGAAAAAGCAATGCTGCATCTTTTTGAAAAG c.780
C L W L R H L P S L E K A M L H L F E K p.260
. . . . . . g.187361
CTAATCTCCAGTGAGAGAAATTGTCTGAGAAGGATCGAATGCTTTATAAAAGATTCATCG c.840
L I S S E R N C L R R I E C F I K D S S p.280
| 09 . . . . . | 10 . g.197528
CTG | CCTCAAGCAGCCTGCCACCCTGCCATATTCCGGGTTGTTGATGAGATGTTCAG | GTGT c.900
L | P Q A A C H P A I F R V V D E M F R | C p.300
. . . . . . g.197588
GCACTCCTGGAAACCGATGGGGCCCTGGAAATCATAGCCACTATTCAGGTGTTTACGCAG c.960
A L L E T D G A L E I I A T I Q V F T Q p.320
. . . | 11 . . . g.205343
TGCTTTGTAGAAGCTCTGGAGAAAGCAAGCAAGCAG | CTGCGGTTTGCACTCAAGACCTAC c.1020
C F V E A L E K A S K Q | L R F A L K T Y p.340
. . . . . | 12 . g.208007
TTTCCTTACACTTCTCCATCTCTTGCCATGGTGCTGCTGCAAGACCCTCAAG | ATATCCCT c.1080
F P Y T S P S L A M V L L Q D P Q D | I P p.360
. . . . . . g.208067
CGGGGACACTGGCTCCAGACACTGAAGCATATTTCTGAACTGCTCAGAGAAGCAGTTGAA c.1140
R G H W L Q T L K H I S E L L R E A V E p.380
. | 13 . . . . . g.211118
GACCAGACTCATGG | GTCCTGCGGAGGTCCCTTTGAGAGCTGGTTCCTGTTCATTCACTTC c.1200
D Q T H G | S C G G P F E S W F L F I H F p.400
. . . . . . g.211178
GGAGGATGGGCTGAGATGGTGGCAGAGCAATTACTGATGTCGGCAGCCGAACCCCCCACG c.1260
G G W A E M V A E Q L L M S A A E P P T p.420
. . . . . . g.211238
GCCCTGCTGTGGCTCTTGGCCTTCTACTACGGCCCCCGTGATGGGAGGCAGCAGAGAGCA c.1320
A L L W L L A F Y Y G P R D G R Q Q R A p.440
| 14 . . . . . g.215491
CAGACTATG | GTCCAGGTGAAGGCCGTGCTGGGCCACCTCCTGGCAATGTCCAGAAGCAGC c.1380
Q T M | V Q V K A V L G H L L A M S R S S p.460
. . . . . . g.215551
AGCCTCTCAGCCCAGGACCTGCAGACGGTAGCAGGACAGGGCACAGACACAGACCTCAGA c.1440
S L S A Q D L Q T V A G Q G T D T D L R p.480
. . . . . . g.215611
GCTCCTGCACAACAGCTGATCAGGCACCTTCTCCTCAACTTCCTGCTCTGGGCTCCTGGA c.1500
A P A Q Q L I R H L L L N F L L W A P G p.500
. . . | 15 . . . g.220886
GGCCACACGATCGCCTGGGATGTCATCACCCTG | ATGGCTCACACTGCTGAGATAACTCAC c.1560
G H T I A W D V I T L | M A H T A E I T H p.520
. . . . . . g.220946
GAGATCATTGGCTTTCTTGACCAGACCTTGTACAGATGGAATCGTCTTGGCATTGAAAGC c.1620
E I I G F L D Q T L Y R W N R L G I E S p.540
. . . . . g.221003
CCTAGATCAGAAAAACTGGCCCGAGAGCTCCTTAAAGAGCTGCGAACTCAAGTCTAG c.1677
P R S E K L A R E L L K E L R T Q V X p.558
. . . . . . g.221063
aaggcacgcaggccgtgtgggtgcccggcgtgagggatcaggctcgccagggccacagga c.*60
. . . . . . g.221123
caggtgatgacctgtggccacgcatttgtggagtaagtgccctcgctgggctgtgagaat c.*120
. . . . . . g.221183
gagctgtacacatcttgggacaatctgctagtatctattttacaaaatgcagagccaggt c.*180
. . . . . . g.221243
ccctcagcccagactcagtcagacatgttcactaatgactcaagtgagccttcggtactc c.*240
. . . . . . g.221303
ctggtgcccgcccggccagaccgtcagcttgataattactaaagcaaaggcctgggtggg c.*300
. . . . . . g.221363
agaacaggtttctagtttttacccaagtcaagctgcacatctattatttaaaaattcaaa c.*360
. . . . . . g.221423
gtcttagaaccaagaatttggtcatgaaccattaaagaatttagagagaacttagctctt c.*420
. . . . . . g.221483
tttagactctttttaggagtcagggatctgggataaagccacactgtcttgctgtatgga c.*480
. . . . . . g.221543
gaaattcttcaaggggagtcagggtccctcaggcttcccttgtgtctccctggacctgcc c.*540
. . . . . . g.221603
tgacaggccacaggagcagacagcacacccaagcccgggcctccggcacactctttccac c.*600
. . . . . . g.221663
tctgtatttgctaaatgatgctaactgctaccaaaaggcccttgggacatcagaggagcc c.*660
. . . . . . g.221723
ggcaggcgaaggtagaggatgtgttccagaaacattagaaggcaggattaattcagttag c.*720
. . . . . . g.221783
ttagttctcttgttaaatggaaatgggaattggaaattcctgataaagaattggcctggc c.*780
. . . . . . g.221843
tgggtgcagtggctcacacctgtgatcccagcactttgggaggccaaggcagggggatta c.*840
. . . . . . g.221903
cttcagcccaggagttccagactgcctggctaacatggcaataccctatctctactaaaa c.*900
. . . . . . g.221963
atacaaaaattatcggggtgcaatggcatgcatctgtaatcccagctattcaagaggctg c.*960
. . . . . . g.222023
aggcatgaggatctcttgaacccgggaggtgggagttgtagtgagccgagatcatgacac c.*1020
. . . . . . g.222083
tgcactccagcctgggcaacagagcgagaccatctcttaaaaaaaggcattgttagtgta c.*1080
. . . . . . g.222143
atctcaaggttaacatttatttcatgtcagtacagggtgctttttcctttcagggacatt c.*1140
. . . . . . g.222203
ctggaattgtattggttgtacattcttttgtgtctattctgtttgtcaagtgagtcaaga c.*1200
. . . . . . g.222263
cttgcttttgtccattttgatttgtgtgtattagtctgagtcttggctccgttttgaggt c.*1260
. . . . . . g.222323
atgagcaaagttttgctggattagaagttaacctttagggaaattccttattttggtatg c.*1320
. . . . . . g.222383
tggcaatgctaatagatccactgaagatctggaaaattccaggaacttttcacctgagcc c.*1380
. . . . . . g.222443
tttcttctgagaaatgctgcagtcagaagggtgtgctggtaaagtattttggtggcagct c.*1440
. . . . . . g.222503
gccatcatggtcattgccttcatataacatgcttcgtgctcatggtcattgccttcatat c.*1500
. . . . . . g.222563
aacatgcttcgtgccatcatgatccttgccttcatataacaaacatgcttcgtcagaggt c.*1560
. . . . . . g.222623
gttggggttgaaaaaggagctgcatgcttcactggagttgagggcctctctcctgttctg c.*1620
. . . . . . g.222683
actttaagccagaacttgtggctgggccatggaagctgtgactcctctgtggacatggtg c.*1680
. . . . . . g.222743
gcagcagggaacccctagagagaggggccactgggaccaggcctcctgttgtggagggac c.*1740
. . . . . . g.222803
tcctgggacagtcctccaccctgtcctgtggtcctgtgtacagggttggcctcttcctcc c.*1800
. . . . . . g.222863
tcccctgccaggcctctgcccatgccccttccttccttctcctgggactggtgaagctag c.*1860
. . . . . . g.222923
gcatctggaagacttcttcctagcctggaagccctgacctcggcccatctgcagaatctc c.*1920
. . . . . . g.222983
ccagttccttcacagctgccgagtcctctcacgggtgcggtggaggcggccttgccggtg c.*1980
. . . . . . g.223043
gtgctttctgggcagccaggggttcctgggtgggaggactgtccctctggggacgtggca c.*2040
. . . . . . g.223103
ctgaagtgcctgctggcttcatgtggccctttgccctttcccagcctgagagatgctcaa c.*2100
. . . . . . g.223163
aggtggggagctgggggagccacccctcggccattccctccacctccaagacaggtggcg c.*2160
. . . . . . g.223223
gccgggcaggcactcttaagcccacctccccctcttgttgccttcgatttcggcaaagcc c.*2220
. . . . . . g.223283
tgggcaggtgccaccgggaaggaatggcatccgagatgctgggcggggacgcggcgtggc c.*2280
. . . . . . g.223343
cgagggggccttgacggcgttggcggggcctgggcacaggggcagccgcagggaggcagg c.*2340
. . . . . . g.223403
gatggcaaggcgtgaagccaccctggaaggaactggaccaaggtcttcagaggtgcgaca c.*2400
. . . . . . g.223463
gggtctggaatctgaccttactctagcaggagtttttgtagactctccctgatagtttag c.*2460
. . . . . . g.223523
tttttgataaagcatgctggtaaaaccactaccctcagagagagccaaaaatacagaaga c.*2520
. . . . . . g.223583
ggcggagagcgcccctccaaccaggctgttattcccctggactccgtgacatctgtggaa c.*2580
. . . . . . g.223643
ttttttagctctttaaaatctgtaatttgttgtctattttttcattctaaataaaacttc c.*2640
. g.223656
agtttgcacctaa c.*2653
(downstream sequence)
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