(used for variant description)
(last modified October 7, 2014)
This file was created to facilitate the description of sequence variants in the FANCA gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_011706.1 (identical to LRG_495), covering FANCA transcript NM_000135.2
(upstream sequence)
. . . . g.5042
cgggcgcagggagccgccgccggggctgtaggcgccaaggcc c.-1
. . . . . . g.5102
ATGTCCGACTCGTGGGTCCCGAACTCCGCCTCGGGCCAGGACCCAGGGGGCCGCCGGAGG c.60
M S D S W V P N S A S G Q D P G G R R R p.20
. | 02 . . . . g.5712
GCCTGGGCCGAGCTGCTGG | CGGGAAGGGTCAAGAGGGAAAAATATAATCCTGAAAGGGCA c.120
A W A E L L A | G R V K R E K Y N P E R A p.40
. . . . . . g.5772
CAGAAATTAAAGGAATCAGCTGTGCGCCTCCTGCGAAGCCATCAGGACCTGAATGCCCTT c.180
Q K L K E S A V R L L R S H Q D L N A L p.60
| 03 . . . . . g.7095
TTGCTTGAG | GTAGAAGGTCCACTGTGTAAAAAATTGTCTCTCAGCAAAGTGATTGACTGT c.240
L L E | V E G P L C K K L S L S K V I D C p.80
. . . . | 04 . . g.10603
GACAGTTCTGAGGCCTATGCTAATCATTCTAGTTCATTTATAG | GCTCTGCTTTGCAGGAT c.300
D S S E A Y A N H S S S F I G | S A L Q D p.100
. . . . . . g.10663
CAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGC c.360
Q A S R L G V P V G I L S A G M V A S S p.120
. . . . . . g.10723
GTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAG c.420
V G Q I C T A P A E T S H P V L L T V E p.140
| 05 . . . . . . g.10909
CAGAGA | AAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATG c.480
Q R | K K L S S L L E F A Q Y L L A H S M p.160
. . . . | 06 . . g.13308
TTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAG | AGTTCTTTGTTGCTTGAA c.540
F S R L S F C Q E L W K I Q | S S L L L E p.180
. . . . . | 07 . g.16269
GCGGTGTGGCATCTTCACGTACAAGGCATTGTGAGCCTGCAAGAGCTGCTGGAAAG | CCAT c.600
A V W H L H V Q G I V S L Q E L L E S | H p.200
. . . . . . g.16329
CCCGACATGCATGCTGTGGGATCGTGGCTCTTCAGGAATCTGTGCTGCCTTTGTGAACAG c.660
P D M H A V G S W L F R N L C C L C E Q p.220
. . . . | 08 . g.18327
ATGGAAGCATCCTGCCAGCATGCTGACGTCGCCAGGGCCATGCTTTCTG | ATTTTGTTCAA c.720
M E A S C Q H A D V A R A M L S D | F V Q p.240
. . . . . . g.18387
ATGTTTGTTTTGAGGGGATTTCAGAAAAACTCAGATCTGAGAAGAACTGTGGAGCCTGAA c.780
M F V L R G F Q K N S D L R R T V E P E p.260
. | 09 . . . | 10 . . g.22439
AAAATGCCGCAG | GTCACGGTTGATGTACTGCAGAGAATGCTGATTT | TTGCACTTGACGCT c.840
K M P Q | V T V D V L Q R M L I F | A L D A p.280
. . . . . | 11 . g.25646
TTGGCTGCTGGAGTACAGGAGGAGTCCTCCACTCACAAGATCGTGAGGTGCTG | GTTCGGA c.900
L A A G V Q E E S S T H K I V R C W | F G p.300
. . . . . . g.25706
GTGTTCAGTGGACACACGCTTGGCAGTGTAATTTCCACAGATCCTCTGAAGAGGTTCTTC c.960
V F S G H T L G S V I S T D P L K R F F p.320
. . . . | 12 . . g.29124
AGTCATACCCTGACTCAGATACTCACTCACAGCCCTGTGCTGAAAG | CATCTGATGCTGTT c.1020
S H T L T Q I L T H S P V L K A | S D A V p.340
. . . . . . g.29184
CAGATGCAGAGAGAGTGGAGCTTTGCGCGGACACACCCTCTGCTCACCTCACTGTACCGC c.1080
Q M Q R E W S F A R T H P L L T S L Y R p.360
| 13 . . . . . . g.29646
AGG | CTCTTTGTGATGCTGAGTGCAGAGGAGTTGGTTGGCCATTTGCAAGAAGTTCTGGAA c.1140
R | L F V M L S A E E L V G H L Q E V L E p.380
. . . . . . g.29706
ACGCAGGAGGTTCACTGGCAGAGAGTGCTCTCCTTTGTGTCTGCCCTGGTTGTCTGCTTT c.1200
T Q E V H W Q R V L S F V S A L V V C F p.400
. . | 14 . . . . g.30156
CCAGAAGCGCAGCAGCTGCTTGAAG | ACTGGGTGGCGCGTTTGATGGCCCAGGCATTCGAG c.1260
P E A Q Q L L E D | W V A R L M A Q A F E p.420
. . . . . . g.30216
AGCTGCCAGCTGGACAGCATGGTCACTGCGTTCCTGGTTGTGCGCCAGGCAGCACTGGAG c.1320
S C Q L D S M V T A F L V V R Q A A L E p.440
. . . | 15 . . g.36714
GGCCCCTCTGCGTTCCTGTCATATGCAGACTGGTTCAAG | GCCTCCTTTGGGAGCACACGA c.1380
G P S A F L S Y A D W F K | A S F G S T R p.460
. . . . . . g.36774
GGCTACCATGGCTGCAGCAAGAAGGCCCTGGTCTTCCTGTTTACGTTCTTGTCAGAACTC c.1440
G Y H G C S K K A L V F L F T F L S E L p.480
. . . | 16 . . . g.38585
GTGCCTTTTGAGTCTCCCCGGTACCTGCAG | GTGCACATTCTCCACCCACCCCTGGTTCCC c.1500
V P F E S P R Y L Q | V H I L H P P L V P p.500
. . . . . . g.38645
GGCAAGTACCGCTCCCTCCTCACAGACTACATCTCATTGGCCAAGACACGGCTGGCCGAC c.1560
G K Y R S L L T D Y I S L A K T R L A D p.520
| 17 . . . . . . g.38793
CTCAAG | GTTTCTATAGAAAACATGGGACTCTACGAGGATTTGTCATCAGCTGGGGACATT c.1620
L K | V S I E N M G L Y E D L S S A G D I p.540
| 18 . . . . . . g.41754
ACTGAG | CCCCACAGCCAAGCTCTTCAGGATGTTGAAAAGGCCATCATGGTGTTTGAGCAT c.1680
T E | P H S Q A L Q D V E K A I M V F E H p.560
. . . | 19 . . . g.42679
ACGGGGAACATCCCAGTCACCGTCATGGAGGCCAG | CATATTCAGGAGGCCTTACTACGTG c.1740
T G N I P V T V M E A S | I F R R P Y Y V p.580
. . . | 20 . . . g.42831
TCCCACTTCCTCCCCGCCCTGCTCACACCTCGAGTG | CTCCCCAAAGTCCCTGACTCCCGT c.1800
S H F L P A L L T P R V | L P K V P D S R p.600
. . | 21 . . . . g.45876
GTGGCGTTTATAGAGTCTCTGAAGAG | AGCAGATAAAATCCCCCCATCTCTGTACTCCACC c.1860
V A F I E S L K R | A D K I P P S L Y S T p.620
. . . . | 22 . . g.48293
TACTGCCAGGCCTGCTCTGCTGCTGAAGAGAAGCCAGAAG | ATGCAGCCCTGGGAGTGAGG c.1920
Y C Q A C S A A E E K P E D | A A L G V R p.640
. . . . . . g.48353
GCAGAACCCAACTCTGCTGAGGAGCCCCTGGGACAGCTCACAGCTGCACTGGGAGAGCTG c.1980
A E P N S A E E P L G Q L T A A L G E L p.660
. . . | 23 . . . g.49869
AGAGCCTCCATGACAGACCCCAGCCAGCGTGATG | TTATATCGGCACAGGTGGCAGTGATT c.2040
R A S M T D P S Q R D V | I S A Q V A V I p.680
. . . . . . g.49929
TCTGAAAGACTGAGGGCTGTCCTGGGCCACAATGAGGATGACAGCAGCGTTGAGATATCA c.2100
S E R L R A V L G H N E D D S S V E I S p.700
. . . . . | 24 . g.51032
AAGATTCAGCTCAGCATCAACACGCCGAGACTGGAGCCACGGGAACACATG | GCTGTGGAC c.2160
K I Q L S I N T P R L E P R E H M | A V D p.720
. . . . . . g.51092
CTCCTGCTGACGTCTTTCTGTCAGAACCTGATGGCTGCCTCCAGTGTCGCTCCCCCGGAG c.2220
L L L T S F C Q N L M A A S S V A P P E p.740
| 25 . . . . . . g.51456
AG | GCAGGGTCCCTGGGCTGCCCTCTTCGTGAGGACCATGTGTGGACGTGTGCTCCCTGCA c.2280
R | Q G P W A A L F V R T M C G R V L P A p.760
. . . | 26 . . . g.51657
GTGCTCACCCGGCTCTGCCAGCTGCTCCGTCACCAG | GGCCCGAGCCTGAGTGCCCCACAT c.2340
V L T R L C Q L L R H Q | G P S L S A P H p.780
. . . . . . g.51717
GTGCTGGGGTTGGCTGCCCTGGCCGTGCACCTGGGTGAGTCCAGGTCTGCGCTCCCAGAG c.2400
V L G L A A L A V H L G E S R S A L P E p.800
. . . . . . g.51777
GTGGATGTGGGTCCTCCTGCACCTGGTGCTGGCCTTCCTGTCCCTGCGCTCTTTGACAGC c.2460
V D V G P P A P G A G L P V P A L F D S p.820
. . . . | 27 . . g.54436
CTCCTGACCTGTAGGACGAGGGATTCCTTGTTCTTCTGCCTGAA | ATTTTGTACAGCAGCA c.2520
L L T C R T R D S L F F C L K | F C T A A p.840
. . . . . . g.54496
ATTTCTTACTCTCTCTGCAAGTTTTCTTCCCAGTCACGAGATACTTTGTGCAGCTGCTTA c.2580
I S Y S L C K F S S Q S R D T L C S C L p.860
. . | 28 . . . . g.56630
TCTCCAGGCCTTATTAAAAAG | TTTCAGTTCCTCATGTTCAGATTGTTCTCAGAGGCCCGA c.2640
S P G L I K K | F Q F L M F R L F S E A R p.880
. . . . . . g.56690
CAGCCTCTTTCTGAGGAGGACGTAGCCAGCCTTTCCTGGAGACCCTTGCACCTTCCTTCT c.2700
Q P L S E E D V A S L S W R P L H L P S p.900
. . . . . . g.56750
GCAGACTGGCAGAGAGCTGCCCTCTCTCTCTGGACACACAGAACCTTCCGAGAGGTGTTG c.2760
A D W Q R A A L S L W T H R T F R E V L p.920
. | 29 . . . . g.59677
AAAGAGGAAGATGTTCAC | TTAACTTACCAAGACTGGTTACACCTGGAGCTGGAAATTCAA c.2820
K E E D V H | L T Y Q D W L H L E L E I Q p.940
. . . | 30 . . . g.62980
CCTGAAGCTGATGCTCTTTCAGATACTGAACG | GCAGGACTTCCACCAGTGGGCGATCCAT c.2880
P E A D A L S D T E R | Q D F H Q W A I H p.960
. . . . . . g.63040
GAGCACTTTCTCCCTGAGTCCTCGGCTTCAGGGGGCTGTGACGGAGACCTGCAGGCTGCG c.2940
E H F L P E S S A S G G C D G D L Q A A p.980
. . . . | 31 . . g.69454
TGTACCATTCTTGTCAACGCACTGATGGATTTCCACCAAAG | CTCAAGGAGTTATGACCAC c.3000
C T I L V N A L M D F H Q S | S R S Y D H p.1000
. . . . . . g.69514
TCAGAAAATTCTGATTTGGTCTTTGGTGGCCGCACAGGAAATGAGGATATTATTTCCAGA c.3060
S E N S D L V F G G R T G N E D I I S R p.1020
| 32 . . . . . . g.71809
TTGCAG | GAGATGGTAGCTGACCTGGAGCTGCAGCAAGACCTCATAGTGCCTCTCGGCCAC c.3120
L Q | E M V A D L E L Q Q D L I V P L G H p.1040
. . . . . . g.71869
ACCCCTTCCCAGGAGCACTTCCTCTTTGAGATTTTCCGCAGACGGCTCCAGGCTCTGACA c.3180
T P S Q E H F L F E I F R R R L Q A L T p.1060
. . . . . | 33 g.72891
AGCGGGTGGAGCGTGGCTGCCAGCCTTCAGAGACAGAGGGAGCTGCTAATGTACAAACG | G c.3240
S G W S V A A S L Q R Q R E L L M Y K R | p.1080
. . . . . . g.72951
ATCCTCCTCCGCCTGCCTTCGTCTGTCCTCTGCGGCAGCAGCTTCCAGGCAGAACAGCCC c.3300
I L L R L P S S V L C G S S F Q A E Q P p.1100
. . . . | 34 . g.74779
ATCACTGCCAGATGCGAGCAGTTCTTCCACTTGGTCAACTCTGAGATG | AGAAACTTCTGC c.3360
I T A R C E Q F F H L V N S E M | R N F C p.1120
. . . . | 35 . g.74981
TCCCACGGAGGTGCCCTGACACAGGACATCACTGCCCACTTCTTCAGG | GGCCTCCTGAAC c.3420
S H G G A L T Q D I T A H F F R | G L L N p.1140
. . . . . . g.75041
GCCTGTCTGCGGAGCAGAGACCCCTCCCTGATGGTCGACTTCATACTGGCCAAGTGCCAG c.3480
A C L R S R D P S L M V D F I L A K C Q p.1160
. . . | 36 . . . g.76613
ACGAAATGCCCCTTAATTTTGACCTCTGCTCTG | GTGTGGTGGCCGAGCCTGGAGCCTGTG c.3540
T K C P L I L T S A L | V W W P S L E P V p.1180
. . . . . . g.76673
CTGCTCTGCCGGTGGAGGAGACACTGCCAGAGCCCGCTGCCCCGGGAACTGCAGAAGCTA c.3600
L L C R W R R H C Q S P L P R E L Q K L p.1200
. . | 37 . . . . g.78753
CAAGAAGGCCGGCAGTTTGCCAGCGA | TTTCCTCTCCCCTGAGGCTGCCTCCCCAGCACCC c.3660
Q E G R Q F A S D | F L S P E A A S P A P p.1220
. . . . . . g.78813
AACCCGGACTGGCTCTCAGCTGCTGCACTGCACTTTGCGATTCAACAAGTCAGGGAAGAA c.3720
N P D W L S A A A L H F A I Q Q V R E E p.1240
. . . . | 38 . . g.80806
AACATCAGGAAGCAGCTAAAGAAGCTGGACTGCGAGAGAGAGGAG | CTATTGGTTTTCCTT c.3780
N I R K Q L K K L D C E R E E | L L V F L p.1260
. . . . | 39 . g.81570
TTCTTCTTCTCCTTGATGGGCCTGCTGTCGTCACATCTGACCTCAAAT | AGCACCACAGAC c.3840
F F F S L M G L L S S H L T S N | S T T D p.1280
. . . . . . g.81630
CTGCCAAAGGCTTTCCACGTTTGTGCAGCAATCCTCGAGTGTTTAGAGAAGAGGAAGATA c.3900
L P K A F H V C A A I L E C L E K R K I p.1300
. . . | 40 . . . g.82130
TCCTGGCTGGCACTCTTTCAGTTGACAGAGAGTG | ACCTCAGGCTGGGGCGGCTCCTCCTC c.3960
S W L A L F Q L T E S D | L R L G R L L L p.1320
. . . . . | 41 . g.82378
CGTGTGGCCCCGGATCAGCACACCAGGCTGCTGCCTTTCGCTTTTTACAG | TCTTCTCTCC c.4020
R V A P D Q H T R L L P F A F Y S | L L S p.1340
. . . . . . g.82438
TACTTCCATGAAGACGCGGCCATCAGGGAAGAGGCCTTCCTGCATGTTGCTGTGGACATG c.4080
Y F H E D A A I R E E A F L H V A V D M p.1360
. . . . . . g.82498
TACTTGAAGCTGGTCCAGCTCTTCGTGGCTGGGGATACAAGCACAGTTTCACCTCCAGCT c.4140
Y L K L V Q L F V A G D T S T V S P P A p.1380
. . | 42. . . . g.82716
GGCAGGAGCCTGGAGCTCAAGGGTCAG | GGCAACCCCGTGGAACTGATAACAAAAGCTCGT c.4200
G R S L E L K G Q | G N P V E L I T K A R p.1400
. . . . . . g.82776
CTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAG c.4260
L F L L Q L I P R C P K K S F S H V A E p.1420
| 43 . . . . . . g.83009
| CTGCTGGCTGATCGTGGGGACTGCGACCCAGAGGTGAGCGCCGCCCTCCAGAGCAGACAG c.4320
| L L A D R G D C D P E V S A A L Q S R Q p.1440
. . . . g.83057
CAGGCTGCCCCTGACGCTGACCTGTCCCAGGAGCCTCATCTCTTCTGA c.4368
Q A A P D A D L S Q E P H L F X p.1455
. . . . . . g.83117
cgggacctgccactgcacaccagcccagctcccgtgtaaataatttattacaagcataac c.*60
. . . . . . g.83177
atggagctcttgttgcactaaaaagtggattacaaatctcctcgactgctttagtgggga c.*120
. . . . . . g.83237
aaggaatcaattatttatgaactgtccggccccgagtcactcagcgtttgcgggaaaata c.*180
. . . . . . g.83297
aaccactggtcccagagcagaggaaggctacttgagccggacaccaagcccgcctccagc c.*240
. . . . . . g.83357
accaagggcgggcagcaccctccgaccctcccatgcgggtgcacacgaagggtgaggctg c.*300
. . . . . . g.83417
acacagccactgcggagtccaggctgctagaggtgctcatcctcactgccgtcctcaggt c.*360
. . . . . . g.83477
gggttcgggcttcaccgcctggccctctgtggtcacagaggggctcggtggcccaggtgg c.*420
. . . . . . g.83537
tggttccgcctccaggggcagggccttgtcctgggtctgtgtcagcgggtgcaccatgga c.*480
. . . . . . g.83597
catgtgtacattgaggttgtgggccttctcaaaccgccggccacactggtcacaggcaaa c.*540
. . . . . . g.83657
gtccagctcagtctcagccttgtgtttggtcatgtggtacttgagggatgcccgctgcct c.*600
. . . . . . g.83717
gcactggaacccacagacctcacacctgggggacagaggcagataagaaggtgcgagggc c.*660
. . . . . . g.83777
cacagccctgggagggggtcctgactcacacttactgcaaaggcttggctcccgaatgtc c.*720
. . . . . . g.83837
gcatttggtggacgagaaggtgcttccgctgcttgaaggtttgtccacattcgtcacaga c.*780
. . . . . . g.83897
tatagttccgcacctctgagaggggagagtccagtgagtccaggcccctgatgctccaac c.*840
. . . . . . g.83957
ctcccggggggacgacgatgacaatgtgaaaccatcacagctgggaagacatttctgcac c.*900
. . . . . . g.84017
atggttcaccatgcagtgggcccaagcaaggggcctatgagggcctcgtttattaagatc c.*960
. . . . . . g.84077
tttaaactgctttatacactgtcacgtggcttcatcagctgtgtgcatttcaggatggtt c.*1020
. . . g.84107
tttaaagaaacctcagaaagctatttcctt c.*1050
(downstream sequence)
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