(used for variant description)
(last modified October 7, 2014)
This file was created to facilitate the description of sequence variants in the FANCB gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007310.1 (identical to LRG_496), covering FANCB transcript NM_001018113.1.
(upstream sequence)
. . g.5028
agcgcgctggcgggaggtttggagcaga c.-241
. . . . . | 02 g.9030
tggataccgtatcgacgtggggcctccggtatgttgccgctgcgttgag | tttcataagta c.-181
. . . . . . g.9090
caagccagacctttgatttacctaccctatcttctttactgatgaagctgaaactacttt c.-121
. . . . . | 03 g.12492
gtgatgcctattgtcccagatctttctgttaattgcctaacaacaaacca | gtttagaaac c.-61
. . . . . . g.12552
atcaactggaatcaatttgcatttgaaaattagatcagcacaaagacttgatattgtgga c.-1
. . . . . . g.12612
ATGACTAGCAAACAAGCAATGTCATCTAACGAACAAGAAAGGCTCTTGTGTTATAATGGG c.60
M T S K Q A M S S N E Q E R L L C Y N G p.20
. . . . . . g.12672
GAAGTCCTTGTTTTCCAGTTGTCTAAAGGAAATTTTGCAGATAAAGAGCCTACAAAAACA c.120
E V L V F Q L S K G N F A D K E P T K T p.40
. . . . . . g.12732
CCCATATTACATGTCAGAAGAATGGTATTTGACAGAGGAACAAAAGTATTTGTTCAGAAG c.180
P I L H V R R M V F D R G T K V F V Q K p.60
. . . . . . g.12792
TCCACTGGATTTTTTACCATAAAGGAAGAAAACTCTCATTTAAAAATCATGTGTTGCAAC c.240
S T G F F T I K E E N S H L K I M C C N p.80
. . . . . . g.12852
TGTGTGTCAGATTTCAGAACTGGAATTAACCTCCCTTACATTGTGATAGAAAAAAATAAA c.300
C V S D F R T G I N L P Y I V I E K N K p.100
. . . . . . g.12912
AAGAATAATGTTTTTGAATATTTTTTACTAATCCTTCACAGTACTAATAAATTTGAAATG c.360
K N N V F E Y F L L I L H S T N K F E M p.120
. . . . . . g.12972
CGTTTGAGTTTTAAACTAGGCTATGAGATGAAGGATGGCCTAAGGGTCCTTAATGGCCCT c.420
R L S F K L G Y E M K D G L R V L N G P p.140
. . . . . . g.13032
TTAATTTTATGGAGGCATGTCAAAGCATTCTTCTTTATCTCTTCTCAAACTGGCAAAGTT c.480
L I L W R H V K A F F F I S S Q T G K V p.160
. . . . . . g.13092
GTTAGTGTGTCAGGTAACTTTTCCTCTATTCAGTGGGCAGGGGAGATTGAAAATTTAGGT c.540
V S V S G N F S S I Q W A G E I E N L G p.180
. . . . . . g.13152
ATGGTTTTATTGGGACTAAAGGAATGTTGTTTATCTGAGGAAGAATGTACTCAAGAGCCT c.600
M V L L G L K E C C L S E E E C T Q E P p.200
. . . . . . g.13212
TCAAAATCAGATTATGCAATTTGGAATACCAAATTTTGTGTATATTCTCTTGAAAGTCAA c.660
S K S D Y A I W N T K F C V Y S L E S Q p.220
. . . . . . g.13272
GAAGTATTAAGTGATATATACATTATTCCTCCTGCTTACAGCAGTGTGGTGACTTATGTA c.720
E V L S D I Y I I P P A Y S S V V T Y V p.240
. . . . . . g.13332
CATATTTGTGCAACTGAGATCATCAAAAACCAGTTAAGAATATCTCTCATTGCCCTTACT c.780
H I C A T E I I K N Q L R I S L I A L T p.260
. . . . . . g.13392
CGAAAGAATCAGCTGATTTCATTTCAGAATGGAACTCCTAAAAATGTGTGCCAGCTTCCA c.840
R K N Q L I S F Q N G T P K N V C Q L P p.280
. . . . . . g.13452
TTTGGAGATCCTTGTGCAGTTCAACTTATGGATTCAGGTGGAGGAAACCTCTTTTTCGTT c.900
F G D P C A V Q L M D S G G G N L F F V p.300
. . . . . | 04 . g.18737
GTATCCTTTATATCCAATAATGCTTGTGCTGTATGGAAAGAGAGCTTTCAG | GTTGCTGCT c.960
V S F I S N N A C A V W K E S F Q | V A A p.320
. . . . . . g.18797
AAATGGGAAAAACTTAGCTTAGTACTGATAGATGACTTTATTGGAAGTGGAACTGAACAA c.1020
K W E K L S L V L I D D F I G S G T E Q p.340
. . . . . . g.18857
GTACTCCTACTTTTTAAGGACTCCTTGAACTCAGACTGCCTGACTTCATTTAAAATAACG c.1080
V L L L F K D S L N S D C L T S F K I T p.360
. . | 05 . . . . g.20144
GATCTTGGAAAAATAAACTATTCG | AGTGAACCATCAGATTGCAATGAAGATGACTTATTT c.1140
D L G K I N Y S | S E P S D C N E D D L F p.380
. . . . . | 06. g.24898
GAAGACAAACAAGAGAATCGTTACCTGGTGGTTCCACCTCTAGAAACAGGACTGAAA | GTT c.1200
E D K Q E N R Y L V V P P L E T G L K | V p.400
. . . . . . g.24958
TGTTTTTCTTCTTTTCGGGAATTACGGCAGCATCTGTTGCTTAAGGAAAAAATTATTTCA c.1260
C F S S F R E L R Q H L L L K E K I I S p.420
. . . . . . g.25018
AAATCTTACAAAGCTTTAATAAACCTAGTTCAAGGAAAAGATGATAATACGTCAAGTGCA c.1320
K S Y K A L I N L V Q G K D D N T S S A p.440
| 07 . . . . . . g.27442
GAGGAG | AAGGAATGTCTTGTTCCTCTTTGTGGTGAAGAAGAAAATTCTGTCCATATCTTA c.1380
E E | K E C L V P L C G E E E N S V H I L p.460
. . . . . . g.27502
GATGAAAAGTTATCAGACAATTTTCAAGATTCAGAACAGCTAGTAGAGAAGATATGGTAT c.1440
D E K L S D N F Q D S E Q L V E K I W Y p.480
. . . . . | 08 . g.32780
CGTGTAATAGATGATAGCTTGGTTGTTGGAGTGAAAACTACATCTTCTTTGAAGCT | GTCC c.1500
R V I D D S L V V G V K T T S S L K L | S p.500
. . . . . . g.32840
CTGAATGATGTGACTTTATCATTGTTAATGGATCAAGCCCATGACTCCAGATTTCGGCTT c.1560
L N D V T L S L L M D Q A H D S R F R L p.520
. . . . . . g.32900
CTAAAGTGTCAAAATAGGGTGATTAAGTTGAGTACAAATCCTTTCCCAGCACCATACTTG c.1620
L K C Q N R V I K L S T N P F P A P Y L p.540
. . . . . . g.32960
ATGCCATGTGAAATAGGATTGGAAGCAAAAAGGGTCACGTTGACCCCTGATAGCAAGAAA c.1680
M P C E I G L E A K R V T L T P D S K K p.560
. . . . . . g.33020
GAGGAAAGCTTTGTTTGTGAACACCCATCTAAGAAAGAGTGTGTACAGATAATTACTGCT c.1740
E E S F V C E H P S K K E C V Q I I T A p.580
. . . . . . g.33080
GTAACATCTCTTTCACCACTTTTAACATTCAGTAAATTTTGTTGCACTGTACTGCTACAA c.1800
V T S L S P L L T F S K F C C T V L L Q p.600
. . . . . . g.33140
ATTATGGAGAGAGAAAGTGGTAACTGTCCTAAAGATCGTTATGTTGTGTGTGGCAGAGTT c.1860
I M E R E S G N C P K D R Y V V C G R V p.620
. . . . . . g.33200
TTTTTAAGTCTAGAAGATCTTTCAACTGGGAAGTACCTACTGACATTTCCAAAGAAGAAA c.1920
F L S L E D L S T G K Y L L T F P K K K p.640
| 09. . . . . . g.33375
CCTATAG | AGCACATGGAAGATCTTTTTGCACTTCTTGCAGCATTCCATAAATCTTGTTTT c.1980
P I E | H M E D L F A L L A A F H K S C F p.660
. . . . . . g.33435
CAAATCACATCACCCGGCTATGCCCTGAATTCAATGAAGGTGTGGCTCTTAGAACATATG c.2040
Q I T S P G Y A L N S M K V W L L E H M p.680
. . . . . . g.33495
AAATGTGAAATAATCAAAGAATTTCCAGAAGTGTACTTTTGTGAAAGACCGGGAAGTTTC c.2100
K C E I I K E F P E V Y F C E R P G S F p.700
. . . . . . g.33555
TATGGGACACTCTTCACTTGGAAACAGAGAACACCATTCGAAGGGATTTTAATAATCTAT c.2160
Y G T L F T W K Q R T P F E G I L I I Y p.720
| 10 . . . . . . g.34136
TCCAG | GAATCAAACAGTTATGTTCCAGTGCCTTCATAATCTCATCAGAATTCTCCCTATA c.2220
S R | N Q T V M F Q C L H N L I R I L P I p.740
. . . . . . g.34196
AACTGTTTCCTCAAAAATCTAAAATCAGGAAGTGAGAATTTCCTAATTGATAATATGGCA c.2280
N C F L K N L K S G S E N F L I D N M A p.760
. . . . . . g.34256
TTTACTTTGGAGAAGGAACTAGTCACCCTTAGTTCTCTTTCTTCTGCCATAGCTAAACAT c.2340
F T L E K E L V T L S S L S S A I A K H p.780
. . . . . . g.34316
GAAAGCAATTTTATGCAGAGGTGTGAAGTGAGCAAAGGAAAGAGTAGTGTCGTCGCGGCT c.2400
E S N F M Q R C E V S K G K S S V V A A p.800
. . . . . . g.34376
GCTTTATCAGACAGAAGGGAAAATATCCATCCCTACAGAAAAGAACTTCAGAGAGAAAAG c.2460
A L S D R R E N I H P Y R K E L Q R E K p.820
. . . . . . g.34436
AAGAAAATGTTGCAAACGAACCTAAAAGTGAGTGGTGCCCTTTACAGAGAAATAACTTTG c.2520
K K M L Q T N L K V S G A L Y R E I T L p.840
. . . . . . g.34496
AAAGTAGCTGAGGTTCAGTTGAAATCAGACTTTGCTGCACAGAAACTGAGTAATTTATAA c.2580
K V A E V Q L K S D F A A Q K L S N L X p.859
. . . . . . g.34556
ttataatttcaatttgatcatattttaaaatatgttttcaccaccatataagattttggt c.*60
. . . . . . g.34616
tctacttgctatatgcctcctttgtaaaaataaacaccgaggcttactgtagtagaaact c.*120
. . . . g.34656
ttagttttgatgatgcacaaaataaacagcagtggttctc c.*160
(downstream sequence)
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