(used for variant description)
(last modified October 5, 2014)
This file was created to facilitate the description of sequence variants in the FANCG gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007312.1 (identical to LRG_499), covering FANCG transcript NM_004629.1.
(upstream sequence)
. g.5012
aggaggacctgg c.-481
. . . . . . g.5072
gggtgtggcagcgaggaagggccgagccacggactgtggggccgaaactcgctcccgccc c.-421
. . . . . . g.5132
accctttctcgaggctgtggcctccgcgagagccgagcgggccgcaccgccggccgtgcg c.-361
. . . . . . g.5192
actgccccagtcagacacgaccccggcttctagcccgcctaagcctgtttggggttgctg c.-301
. . . . . . g.5252
actcgtttcctccccgagtttcccgcgggaactaactcttcaagaggaccaaccgcagcc c.-241
. . . . . . g.5312
cagagcttcgcagacccggccaaccagaggcgaggttgagagcccggcgggccgcgggga c.-181
. . . . . . g.5372
gagagcgtcccatctgtcctggaaagcctgggcgggtggattgggaccccgagagaagca c.-121
. . . . . . g.5432
ggggagctcggcggggtgcagaagtgcccaggcccctccccgctggggttgggagcttgg c.-61
. . . . . . g.5492
gcaggccagcttcacccttcctaagtccgcttctggtctccgggcccagcctcggccacc c.-1
. . . . . . g.5552
ATGTCCCGCCAGACCACCTCTGTGGGCTCCAGCTGCCTGGACCTGTGGAGGGAAAAGAAT c.60
M S R Q T T S V G S S C L D L W R E K N p.20
. . | 02 . . . . g.5811
GACCGGCTCGTTCGACAGGCCAAG | GTGGCTCAGAACTCCGGTCTGACTCTGAGGCGACAG c.120
D R L V R Q A K | V A Q N S G L T L R R Q p.40
. . . . . | 03 . g.6285
CAGTTGGCTCAGGATGCACTGGAAGGGCTCAGAGGGCTCCTCCATAGTCTGCAAG | GGCTC c.180
Q L A Q D A L E G L R G L L H S L Q G | L p.60
. . . . . . g.6345
CCTGCAGCTGTTCCTGTTCTTCCCTTGGAGCTGACTGTCACCTGCAACTTCATTATCCTG c.240
P A A V P V L P L E L T V T C N F I I L p.80
. . . . . . g.6405
AGGGCAAGCTTGGCCCAGGGTTTCACAGAGGATCAGGCCCAGGATATCCAGCGGAGCCTA c.300
R A S L A Q G F T E D Q A Q D I Q R S L p.100
| 04. . . . . . g.6726
GAGAGAG | TGCTGGAGACACAGGAGCAGCAGGGGCCCAGGTTGGAACAGGGGCTCAGGGAG c.360
E R V | L E T Q E Q Q G P R L E Q G L R E p.120
. . . . . . g.6786
CTGTGGGACTCTGTCCTTCGTGCTTCCTGCCTTCTGCCGGAGCTGCTGTCTGCCCTGCAC c.420
L W D S V L R A S C L L P E L L S A L H p.140
. . . . . . g.6846
CGCCTGGTTGGCCTGCAGGCTGCCCTCTGGTTGAGTGCTGACCGTCTTGGGGACCTGGCC c.480
R L V G L Q A A L W L S A D R L G D L A p.160
. . . | 05 . . . g.7647
TTGTTACTAGAGACCCTGAATGGCAGCCAG | AGTGGAGCCTCTAAGGATCTGCTGTTACTT c.540
L L L E T L N G S Q | S G A S K D L L L L p.180
. . . . . . g.7707
CTGAAAACTTGGAGTCCCCCAGCTGAGGAATTAGATGCTCCATTGACCCTGCAGGATGCC c.600
L K T W S P P A E E L D A P L T L Q D A p.200
. . . . | 06 . . g.7929
CAGGGATTGAAGGATGTCCTCCTGACAGCATTTGCCTACCGCCAAG | GTCTCCAGGAGCTG c.660
Q G L K D V L L T A F A Y R Q G | L Q E L p.220
. . . . . . g.7989
ATCACAGGGAACCCAGACAAGGCACTAAGCAGCCTTCATGAAGCGGCCTCAGGCCTGTGT c.720
I T G N P D K A L S S L H E A A S G L C p.240
. . . . . | 07. g.8149
CCACGGCCTGTGTTGGTCCAGGTGTACACAGCACTGGGGTCCTGTCACCGTAAGATG | GGA c.780
P R P V L V Q V Y T A L G S C H R K M | G p.260
. . . . . . g.8209
AATCCACAGAGAGCACTGTTGTACTTGGTTGCAGCCCTGAAAGAGGGATCAGCCTGGGGT c.840
N P Q R A L L Y L V A A L K E G S A W G p.280
. . . . . . g.8269
CCTCCACTTCTGGAGGCCTCTAGGCTCTATCAGCAACTGGGGGACACAACAGCAGAGCTG c.900
P P L L E A S R L Y Q Q L G D T T A E L p.300
. . | 08 . . . . g.8469
GAGAGTCTGGAGCTGCTAGTTGAG | GCCTTGAATGTCCCATGCAGTTCCAAAGCCCCGCAG c.960
E S L E L L V E | A L N V P C S S K A P Q p.320
. . . . . . g.8529
TTTCTCATTGAGGTAGAATTACTACTGCCACCACCTGACCTAGCCTCACCCCTTCATTGT c.1020
F L I E V E L L L P P P D L A S P L H C p.340
. . . . . | 09 . g.8992
GGCACTCAGAGCCAGACCAAGCACATACTAGCAAGCAGGTGCCTACAGACGGGGAG | GGCA c.1080
G T Q S Q T K H I L A S R C L Q T G R | A p.360
. . . . . . g.9052
GGAGACGCTGCAGAGCATTACTTGGACCTGCTGGCCCTGTTGCTGGATAGCTCGGAGCCA c.1140
G D A A E H Y L D L L A L L L D S S E P p.380
| 10 . . . . . . g.9319
AGG | TTCTCCCCACCCCCCTCCCCTCCAGGGCCCTGTATGCCTGAGGTGTTTTTGGAGGCA c.1200
R | F S P P P S P P G P C M P E V F L E A p.400
. . . . . . g.9379
GCGGTAGCACTGATCCAGGCAGGCAGAGCCCAAGATGCCTTGACTCTATGTGAGGAGTTG c.1260
A V A L I Q A G R A Q D A L T L C E E L p.420
. . . . . . g.9439
CTCAGCCGCACATCATCTCTGCTACCCAAGATGTCCCGGCTGTGGGAAGATGCCAGAAAA c.1320
L S R T S S L L P K M S R L W E D A R K p.440
. . . . . . g.9499
GGAACCAAGGAACTGCCATACTGCCCACTCTGGGTCTCTGCCACCCACCTGCTTCAGGGC c.1380
G T K E L P Y C P L W V S A T H L L Q G p.460
. . . . . | 11 . g.9698
CAGGCCTGGGTTCAACTGGGTGCCCAAAAAGTGGCAATTAGTGAATTTAGCAG | GTGCCTC c.1440
Q A W V Q L G A Q K V A I S E F S R | C L p.480
. . . . | 12 . . g.9954
GAGCTGCTCTTCCGGGCCACACCTGAGGAAAAAGAACAAG | GGGCAGCTTTCAACTGTGAG c.1500
E L L F R A T P E E K E Q G | A A F N C E p.500
. . . . . . g.10014
CAGGGATGTAAGTCAGATGCGGCACTGCAGCAGCTTCGGGCAGCCGCCCTAATTAGTCGT c.1560
Q G C K S D A A L Q Q L R A A A L I S R p.520
. . . . . . g.10074
GGACTGGAATGGGTAGCCAGCGGCCAGGATACCAAAGCCTTACAGGACTTCCTCCTCAGT c.1620
G L E W V A S G Q D T K A L Q D F L L S p.540
. | 13 . . . . . g.10566
GTGCAGATGTGCCCAG | GTAATCGAGACACTTACTTTCACCTGCTTCAGACTCTGAAGAGG c.1680
V Q M C P G | N R D T Y F H L L Q T L K R p.560
. . . . . . g.10626
CTAGATCGGAGGGATGAGGCCACTGCACTCTGGTGGAGGCTGGAGGCCCAAACTAAGGGG c.1740
L D R R D E A T A L W W R L E A Q T K G p.580
. . | 14 . . . . g.10840
TCACATGAAGATGCTCTGTG | GTCTCTCCCCCTGTACCTAGAAAGCTATTTGAGCTGGATC c.1800
S H E D A L W | S L P L Y L E S Y L S W I p.600
. . . . . . g.10900
CGTCCCTCTGATCGTGACGCCTTCCTTGAAGAATTTCGGACATCTCTGCCAAAGTCTTGT c.1860
R P S D R D A F L E E F R T S L P K S C p.620
g.10909
GACCTGTAG c.1869
D L X p.622
. . . . . . g.10969
ctgccacgttttgaagagcttgagctgggtccccagtgggctgtctctctgtggggaggg c.*60
. . . . . . g.11029
ctttctgcttcaccatcattaggaatgtgaccattcctatataattcctggactggtgag c.*120
. . . . . . g.11089
attggtggtaggcctgtgaaatttgccctagttactaccattctcgttttggaggaaaca c.*180
. . . . . . g.11149
atctctgccaccaccaagtcattgactttgctcgaggcaccttttttcctgtttctcctt c.*240
. . . g.11179
ttctgttgtcgagtaaaatttcatatttat c.*270
(downstream sequence)
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