(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_007409.2 (identical to LRG_300), covering FANCA transcript NM_032043.2.
(upstream sequence)
g.5006
gctatt c.-301
. . . . . . g.5066
gggcgctgggagtcgagggggcgggaggcgggaattcgtctcgggttgtgtggttgaggg c.-241
. . . . . . g.5126
gtctggtgggtcgaggaaaggtaacggcggccccagtcctgcacacaaggccggggaagt c.-181
. . . . . . g.5186
agcagcacccccaggaagagggaggaggaagggctcgtgccctttcttctcttccagggc c.-121
. . . . . . g.5246
tccgctttatttgctctcagaagtcggtttcctttccttttcttcagtgaatcggagctc c.-61
. . . | 02 . . g.7020
agagcgttgcttcggtttccctccagacag | ttaggaatctgaaataaacaggaaagcact c.-1
. . . . . . g.7080
ATGTCTTCAATGTGGTCTGAATATACAATTGGTGGGGTGAAGATTTACTTTCCTTATAAA c.60
M S S M W S E Y T I G G V K I Y F P Y K p.20
. . . | 03 . . . g.8679
GCTTACCCGTCACAGCTTGCTATGATGAATTCT | ATTCTCAGAGGATTAAACAGCAAGCAA c.120
A Y P S Q L A M M N S | I L R G L N S K Q p.40
. . . . . . g.8739
CATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGCTTAGCCTTACTTTGTTCTGCT c.180
H C L L E S P T G S G K S L A L L C S A p.60
. . | 04 . . . . g.11363
TTAGCATGGCAACAATCTCTTAGTG | GGAAACCAGCAGATGAGGGCGTAAGTGAAAAAGCT c.240
L A W Q Q S L S G | K P A D E G V S E K A p.80
. . . . . . g.11423
GAAGTACAATTGTCATGTTGTTGTGCATGCCATTCAAAGGATTTTACAAACAATGACATG c.300
E V Q L S C C C A C H S K D F T N N D M p.100
. . . . . . g.11483
AACCAAGGAACTTCACGTCATTTCAACTATCCAAGCACACCACCTTCTGAAAGAAATGGC c.360
N Q G T S R H F N Y P S T P P S E R N G p.120
. | 05 . . . . g.19344
ACTTCATCAACTTGTCAAG | ACTCCCCTGAAAAAACCACTCTGGCTGCAAAGTTATCTGCT c.420
T S S T C Q D | S P E K T T L A A K L S A p.140
. . . . . . g.19404
AAGAAACAGGCATCCATATACAGAGATGAAAATGATGATTTTCAAGTAGAGAAGAAAAGA c.480
K K Q A S I Y R D E N D D F Q V E K K R p.160
. . | 06. . . . g.21372
ATTCGACCCTTAGAAACTACACAGCAG | ATTAGAAAACGTCATTGCTTTGGAACAGAAGTA c.540
I R P L E T T Q Q | I R K R H C F G T E V p.180
. . . . . . g.21432
CACAATTTGGATGCAAAAGTTGATTCAGGAAAGACTGTAAAACTCAACTCTCCACTGGAA c.600
H N L D A K V D S G K T V K L N S P L E p.200
. . | 07. . . . g.59835
AAGATAAACTCCTTTTCGCCACAGAAA | CCCCCTGGCCACTGTTCTAGGTGCTGTTGTTCT c.660
K I N S F S P Q K | P P G H C S R C C C S p.220
. . . . . . g.59895
ACTAAACAAGGAAACAGTCAAGAGTCATCGAATACCATTAAGAAGGATCATACAGGGAAA c.720
T K Q G N S Q E S S N T I K K D H T G K p.240
. . . . . . g.59955
TCCAAGATACCCAAAATATATTTTGGGACACGCACACACAAGCAGATTGCTCAGATTACT c.780
S K I P K I Y F G T R T H K Q I A Q I T p.260
. . . . . . g.60015
AGAGAGCTCCGGAGGACGGCATATTCAGGGGTTCCAATGACTATTCTTTCCAGCAGGGAT c.840
R E L R R T A Y S G V P M T I L S S R D p.280
. . . . . . g.60075
CATACTTGTGTCCATCCTGAGGTAGTCGGTAACTTCAACAGAAATGAGAAGTGCATGGAA c.900
H T C V H P E V V G N F N R N E K C M E p.300
. | 08 . . . . g.67127
TTGCTAGATGGGAAAAAC | GGAAAATCCTGCTATTTTTATCATGGAGTTCATAAAATTAGT c.960
L L D G K N | G K S C Y F Y H G V H K I S p.320
. . . . . . g.67187
GATCAGCACACATTACAGACTTTCCAAGGGATGTGCAAAGCCTGGGATATAGAAGAACTT c.1020
D Q H T L Q T F Q G M C K A W D I E E L p.340
. . . . . . g.67247
GTCAGCCTGGGGAAGAAACTAAAGGCCTGTCCATATTACACAGCCCGAGAACTAATACAA c.1080
V S L G K K L K A C P Y Y T A R E L I Q p.360
. . . . . . g.67307
GATGCTGACATCATATTTTGTCCCTACAACTATCTTCTAGATGCACAAATAAGGGAAAGT c.1140
D A D I I F C P Y N Y L L D A Q I R E S p.380
| 09 . . . . . . g.69320
| ATGGATTTAAATCTGAAAGAACAGGTTGTCATTTTAGATGAAGCTCATAACATCGAGGAC c.1200
| M D L N L K E Q V V I L D E A H N I E D p.400
. . . . . . g.69380
TGTGCTCGGGAATCAGCAAGTTACAGTGTAACAGAAGTTCAGCTTCGGTTTGCTCGGGAT c.1260
C A R E S A S Y S V T E V Q L R F A R D p.420
. . . . . . g.69440
GAACTAGATAGTATGGTCAACAATAATATAAGGAAGAAAGATCATGAACCCCTACGAGCT c.1320
E L D S M V N N N I R K K D H E P L R A p.440
. . | 10 . . . . g.74870
GTGTGCTGTAGCCTCATTAA | TTGGTTAGAAGCAAACGCTGAATATCTTGTAGAAAGAGAT c.1380
V C C S L I N | W L E A N A E Y L V E R D p.460
. . . . . . g.74930
TATGAATCAGCTTGTAAAATATGGAGTGGAAATGAAATGCTCTTAACTTTACACAAAATG c.1440
Y E S A C K I W S G N E M L L T L H K M p.480
. . . | 11 . . . g.84162
GGTATCACCACTGCTACTTTTCCCATTTTGCAG | GGACATTTTTCTGCTGTTCTTCAAAAA c.1500
G I T T A T F P I L Q | G H F S A V L Q K p.500
. . . . . . g.84222
GAGGAAAAAATCTCACCAATTTATGGTAAAGAGGAGGCAAGAGAAGTACCTGTTATTAGT c.1560
E E K I S P I Y G K E E A R E V P V I S p.520
. . . . . . g.84282
GCATCAACTCAAATAATGCTTAAAGGACTTTTTATGGTACTTGACTATCTTTTTAGGCAA c.1620
A S T Q I M L K G L F M V L D Y L F R Q p.540
| 12 . . . . . g.87606
AATAGCAG | ATTTGCAGATGATTATAAAATTGCGATTCAACAGACTTACTCCTGGACAAAT c.1680
N S R | F A D D Y K I A I Q Q T Y S W T N p.560
. . . . . . g.87666
CAGATTGATATTTCAGACAAAAATGGGTTGTTGGTTCTACCAAAAAATAAGAAACGTTCA c.1740
Q I D I S D K N G L L V L P K N K K R S p.580
. . . . . | 13 . g.88164
CGACAGAAAACTGCAGTTCATGTGCTAAACTTTTGGTGCTTAAATCCAGCTGTG | GCCTTT c.1800
R Q K T A V H V L N F W C L N P A V | A F p.600
. . . . . . g.88224
TCAGATATTAATGGCAAAGTTCAGACCATTGTTTTGACATCTGGTACATTATCACCAATG c.1860
S D I N G K V Q T I V L T S G T L S P M p.620
. . . . . . g.88284
AAATCCTTTTCGTCAGAACTTGGTGTTACATTTACTATCCAGCTGGAGGCTAATCATATC c.1920
K S F S S E L G V T F T I Q L E A N H I p.640
. | 14 . . . . . g.92042
ATTAAAAATTCACAG | GTTTGGGTTGGTACCATTGGGTCAGGCCCCAAGGGTCGGAATCTC c.1980
I K N S Q | V W V G T I G S G P K G R N L p.660
. . . . . . g.92102
TGTGCTACCTTCCAGAATACTGAAACATTTGAGTTCCAAGATGAAGTGGGAGCACTTTTG c.2040
C A T F Q N T E T F E F Q D E V G A L L p.680
. . . . . | 15. g.123971
TTATCTGTGTGCCAGACTGTGAGCCAAGGAATTTTGTGTTTCTTGCCATCTTACAAG | TTA c.2100
L S V C Q T V S Q G I L C F L P S Y K | L p.700
. . . . . . g.124031
TTAGAAAAATTAAAAGAACGTTGGCTCTCTACTGGTTTATGGCATAATCTGGAGTTGGTG c.2160
L E K L K E R W L S T G L W H N L E L V p.720
. . . . . . g.124091
AAGACAGTCATTGTAGAACCACAGGGAGGAGAAAAAACAAATTTTGATGAATTACTGCAG c.2220
K T V I V E P Q G G E K T N F D E L L Q p.740
. . . | 16. . . g.125448
GTGTACTATGACGCAATCAAATACAAAGGAGAGAAAG | ATGGAGCTCTCCTGGTAGCAGTT c.2280
V Y Y D A I K Y K G E K D | G A L L V A V p.760
. . . . . . g.125508
TGTCGTGGTAAAGTGAGTGAGGGTCTGGATTTCTCAGATGACAATGCCCGTGCTGTCATA c.2340
C R G K V S E G L D F S D D N A R A V I p.780
. . . | 17 . . g.152517
ACAATAGGAATTCCTTTTCCAAATGTGAAAGATCTACAG | GTTGAACTAAAACGACAATAC c.2400
T I G I P F P N V K D L Q | V E L K R Q Y p.800
. . . . . . g.152577
AATGACCACCATTCAAAATTGAGAGGTCTTCTACCTGGCCGTCAGTGGTATGAAATTCAA c.2460
N D H H S K L R G L L P G R Q W Y E I Q p.820
. . . | 18 . . . g.175075
GCATACAGGGCCTTAAACCAGGCCCTTGGTAG | ATGTATTAGACACAGAAATGATTGGGGA c.2520
A Y R A L N Q A L G R | C I R H R N D W G p.840
. . . . . | 19 . g.182399
GCTCTTATTCTAGTGGATGATCGCTTTAGGAATAACCCAAGTCGCTATATATCTG | GACTT c.2580
A L I L V D D R F R N N P S R Y I S G | L p.860
. . . . . . g.182459
TCTAAATGGGTACGGCAGCAGATTCAGCACCATTCAACCTTTGAAAGTGCACTGGAATCC c.2640
S K W V R Q Q I Q H H S T F E S A L E S p.880
. . . . . . g.182519
TTGGCTGAATTTTCCAAAAAGCATCAAAAAGTTCTTAATGTATCCATAAAGGACAGAACC c.2700
L A E F S K K H Q K V L N V S I K D R T p.900
. . . . . . g.182579
AATATACAGGACAATGAGTCTACACTTGAAGTGACCTCTTTAAAGTACAGTACCTCACCT c.2760
N I Q D N E S T L E V T S L K Y S T S P p.920
. . . . . . g.182639
TATTTACTGGAAGCAGCAAGTCATCTATCACCAGAAAATTTTGTGGAAGATGAAGCAAAG c.2820
Y L L E A A S H L S P E N F V E D E A K p.940
. . . . . . g.182699
ATATGTGTCCAGGAACTACAGTGTCCTAAAATTATTACCAAAAATTCACCTCTACCAAGT c.2880
I C V Q E L Q C P K I I T K N S P L P S p.960
. . | 20 . . . . g.184454
AGCATTATCTCCAGAAAGGAGAAAA | ATGATCCAGTATTCCTGGAAGAAGCAGGGAAAGCA c.2940
S I I S R K E K N | D P V F L E E A G K A p.980
. . . . . . g.184514
GAAAAAATTGTGATTTCCAGATCCACAAGCCCAACTTTCAACAAACAAACAAAGAGAGTT c.3000
E K I V I S R S T S P T F N K Q T K R V p.1000
. . . . . . g.184574
AGCTGGTCAAGCTTTAATTCTTTGGGACAGTATTTTACTGGTAAAATACCGAAGGCAACA c.3060
S W S S F N S L G Q Y F T G K I P K A T p.1020
. . . . . . g.184634
CCTGAGCTCGGGTCATCAGAGAATAGTGCCTCTAGTCCTCCCCGTTTCAAAACAGAGAAG c.3120
P E L G S S E N S A S S P P R F K T E K p.1040
. . . . . . g.184694
ATGGAAAGTAAAACTGTTTTGCCCTTCACTGATAAATGTGAATCCTCAAATCTGACAGTA c.3180
M E S K T V L P F T D K C E S S N L T V p.1060
. . . . . . g.184754
AACACATCGTTTGGATCATGCCCTCAATCAGAAACCATTATTTCATCATTAAAGATTGAT c.3240
N T S F G S C P Q S E T I I S S L K I D p.1080
. . . . . . g.184814
GCCACCCTTACTAGAAAAAATCATTCTGAACATCCGCTCTGTTCTGAAGAAGCCCTGGAT c.3300
A T L T R K N H S E H P L C S E E A L D p.1100
. . . . . . g.184874
CCAGACATTGAATTGTCTCTAGTAAGTGAAGAAGATAAACAGTCCACTTCAAATAGAGAT c.3360
P D I E L S L V S E E D K Q S T S N R D p.1120
. . . . . . g.184934
TTTGAAACAGAAGCAGAAGATGAATCTATCTATTTTACACCTGAACTTTATGATCCTGAA c.3420
F E T E A E D E S I Y F T P E L Y D P E p.1140
. . . . . . g.184994
GATACAGATGAAGAAAAAAATGACCTAGCTGAAACTGATAGAGGAAATAGATTGGCTAAC c.3480
D T D E E K N D L A E T D R G N R L A N p.1160
. . . . . . g.185054
AATTCAGATTGCATTTTAGCTAAAGACCTTTTTGAAATTAGAACTATAAAAGAAGTAGAT c.3540
N S D C I L A K D L F E I R T I K E V D p.1180
. . . . . . g.185114
TCAGCCAGAGAAGTGAAAGCTGAGGATTGCATAGATACAAAGTTGAATGGAATTCTGCAT c.3600
S A R E V K A E D C I D T K L N G I L H p.1200
. . . . . . g.185174
ATTGAAGAAAGTAAAATTGATGACATTGATGGTAATGTAAAAACAACTTGGATAAATGAA c.3660
I E E S K I D D I D G N V K T T W I N E p.1220
. . . . . . g.185234
CTGGAACTGGGAAAAACTCATGAAATAGAAATAAAGAACTTTAAACCATCTCCTTCCAAA c.3720
L E L G K T H E I E I K N F K P S P S K p.1240
. . . g.185264
AATAAAGGCATGTTTCCTGGTTTTAAGTAA c.3750
N K G M F P G F K X p.1249
. . . . . . g.185324
taatacttaactctcaagctaagtaaaaatatgtcatcatgcttatgttaaactctgttg c.*60
. . . . . . g.185384
taagtaataatttgtaaattgaataagtggcatactttttaaaaaactattttatgttca c.*120
. . . . . . g.185444
gaaatgtaaatgttattattcttgagtttttgggtttttttttttgagacagagtcttgg c.*180
. . . . . . g.185504
tctgttgcccaggctggaatgcagtggtgtgctctgggctcactgcaaccttcacctcca c.*240
. . . . . . g.185564
ggttcaagtgattctcctgcctcagccttctgagtagctgggactacaggtgtgcaccac c.*300
. . . . . . g.185624
catgcccagctagtttttgtatttttagtagagatggggtttcaccatgttggccaggct c.*360
. . . . . . g.185684
ggtctcgaactcctggcctcgtgatctgcccttctctgcctccctaagttgctgggatta c.*420
. . . . . . g.185744
caggtgtgagccacagtgcctggcccattcttgagttttgataaagtaattcatacaaag c.*480
. . . . . . g.185804
tactgtcctcaaataagtcttccttagctaaatgcaatttaaaattattcaaagatccta c.*540
. . . . . . g.185864
gggcacttctagtttcacgtaaatattcatattaggtggttctcttcatccatttgtttt c.*600
. . . . . . g.185924
cacactgatacataaaaattaacagcagtctaatctagtgacacctcagtcatatttcgc c.*660
. . . . . . g.185984
tatagattttacctcaaatcagtccaagactttttcagagatcaccatttgtcttgaaag c.*720
. . . . . . g.186044
gtttatttcgttattaaactgcctacttataagtaattaagagaaattaagaaagtagta c.*780
. . . . . . g.186104
tgcatttttaattgaaattgttttacattctttgtataataaacctaaaaccaaacatgt c.*840
. . . . . . g.186164
cataaacaaattgacgtaaagatataaaatgccaaatgaagtattccaaattttctattc c.*900
. . . . . . g.186224
taattatttagcttcaccatcattgtggaaaaaaatactagatcctgcttagtattatat c.*960
. . . . . . g.186284
atttttcctagtggatcagtgagtaataagtaccaaacactagactagaaggtaatttct c.*1020
. . . . . . g.186344
acattgtttagaaagggtgaaacaatttatcccctctggtattgttctagcataagcttt c.*1080
. . . . . . g.186404
agttatacaatgattaagatagaaaacttcatatataaatttgataagcaaacccacatt c.*1140
. . . . . . g.186464
tatagctgcagctaaaatatgtttccttagggcacagtaatcctttctgtgaattttgac c.*1200
. . . . . . g.186524
cttgtttgtgtttttgtgaatgaagctatatgtctaatcaaaaatgattataaaagaggc c.*1260
. . . . . . g.186584
tcatctctgacatcattccaaaaatacattcattgatctctttttaagaaacatctgtta c.*1320
. . . . . . g.186644
ttcactgggcattgggactttttgtgagtaatttgaattgaaattttatgagctatccaa c.*1380
. . . . . . g.186704
gaattctgtatggtctattattttcaagtcaaaatttccagtaaggatttactttacatt c.*1440
. . . . . . g.186764
tcatttggataaatgaatcattatataggtatgtctttgcttccattttgagacatttag c.*1500
. . . . . . g.186824
atttttacagcctgtttctatagcatttgatgttacaactctaagcgtagttcaaagaca c.*1560
. . . . . . g.186884
tttaaattgacaagttaccagttaaagaatttagaatatattagatcccatctagtatta c.*1620
. . . . . . g.186944
tatattttttctagttgatcattgagcagtaaataccaaatactcgattagaaggtaatt c.*1680
. . . . . . g.187004
tttacattgttttgaaagggtgaaacaatttatctcctctggtattattcttaaaccaca c.*1740
. . . . . . g.187064
gatagggatagtagggtagtgaaacgaataaatacctggtagaagacaagagacttgggc c.*1800
. . . . . . g.187124
tctacacctggctctgccactgatttgctaagtcatattggcaatcaccacacccttcag c.*1860
. . . . . . g.187184
ggaattagtttcatctgtaaaatgcagcggttagtactataaaatcatacaaatttcttt c.*1920
. . . . . . g.187244
gtgctttgagaatctataaaggaatgtctgttgatattctgagtcgattttcatttgctt c.*1980
. . . . . . g.187304
ttgttccagaacggttaaaataaagcatattatttcatttaaaaagtaaagtggctctta c.*2040
. . . . . . g.187364
ctcatttacatttagggaacgatggtgacgtggtttggctatgtccccagccagatctca c.*2100
. . . . . . g.187424
tcttgaattgtagttcccataatcccgacgtgttgtgggaaggacccagtgggaggtaat c.*2160
. . . . . . g.187484
tgaatcgtgggggcggttaccctcatgcggttctcgtgatactgagttcttatgagacct c.*2220
. . . . . . g.187544
gatgattttataaggagcttttccctgcttcactctcattcttctctcctgctgccctgt c.*2280
. . . . . . g.187604
gaaaagttgccttccgccatgattgtaagtttcttgaggcctcctcagtcatgcagaact c.*2340
. . . . . . g.187664
gtgagtcaattaaacctctttcctttataaattacccagtcttgggtatgactttattag c.*2400
. . . . . . g.187724
cagcatgagaacagactgacacagatggtatatgtgcataataacttggaaagctagata c.*2460
. . . . . . g.187784
tttattttcgcaatgctacaattaaaacattttgaggacttttaaaattacctttagggc c.*2520
. . . . . . g.187844
caggcgcggtggctcacgcctgtaatcccagcactttgggaggccgaggcgggcggatca c.*2580
. . . . . . g.187904
cgaggtcaggagatcgagaccatcctggttaacacggtgaaaccccgtctctactaaaaa c.*2640
. . . . . . g.187964
tacaaaaaattagccaggcgtggtggcgggcgcctgtagtcccagctactcaggaggctg c.*2700
. . . . . . g.188024
aggcaggagaatggcgtgaacccgggaggtggagcttgcagtgagccgagattgcgccac c.*2760
. . . . . . g.188084
tgcactccagcctgggcgacagagcgggactccgtctcaaaaaaaaaaaaaaaaagaaat c.*2820
. . . . . . g.188144
tacctttagaattggtaaactacatgagaaaattaagcatattattcatatcttagtgtt c.*2880
. . . . . . g.188204
attacccaacttcatctccaatactttcccctttccctagctagatatgtttttgtttgt c.*2940
. . . . . . g.188264
ttgttttagacagtcttgctctgtcgctcaggctggagtgcaaaggcacgatcttggctc c.*3000
. . . . . . g.188324
actgcaacctctgcctcgcaggttaaagcgattctcatgtctcagcctcctgcgtagctg c.*3060
. . . . . . g.188384
ggattacaggtgtacaccactgcacccagctaatttttttttttttttttttttaagtat c.*3120
. . . . . . g.188444
cgacagggtttcaccatgttggccaggctggtctcaaactcctgacctcaagtgatctgc c.*3180
. . . . . . g.188504
ccacctcggcctcccaaagtgttgggattacaggcgtgagccaccatgcctggcctagat c.*3240
. . . . . . g.188564
attttttattctttccaaaatttaattctccctgaagttaaaaattttcattactgagaa c.*3300
. . . . . . g.188624
tgtacatagagatgtgtcacaaccctttagtaattccaaaaggtgtttcaaaaattttat c.*3360
. . . . . . g.188684
acaatgataatcactgttgaaacaggtgtatattctcctcagatcatgactgaccaagat c.*3420
. . . . . . g.188744
gatattccaagaagtaaactactggcctttatagagtaggatgtaggccattttcattac c.*3480
. . . . . . g.188804
tgataacatacttttaaaagaaatgtttacagatttaaataagttaaaacatctaaatgc c.*3540
. . . . . . g.188864
ttttaaaagagcacctggcacattgcaagttattcattattaattagtagatgaatcata c.*3600
. . . . . . g.188924
tatctggagtgcacccttgctctatatgaaagcttccctaactatagatatataggtgat c.*3660
. . . . . . g.188984
agactgacaataaagatttgaggaaagaaaaattatttggctggcttattttttaagctt c.*3720
. . . . . . g.189044
ttgagatgtataaggtagagattgtttatcaaataatttatgtgacacattcaatgcata c.*3780
. . . . . . g.189104
tgaaataattatctaatactgaatttattcaaggactgaaagtatatagagcacacaggc c.*3840
. . . . . . g.189164
tgcaaaccaggaaaactaccagttagagacagggctttattcttggaataaaggtacaat c.*3900
. . . . . . g.189224
gtaaagagtagatgtttcatgacttgattaaattatttaaaactgtctagaattgtgtta c.*3960
. . . . . . g.189284
taaaactattactatgtttctatgcacttagttattacatgggtttaaatttggcactgt c.*4020
. . . . . . g.189344
ttctaagtttctataaggctttgttgttaagatctttctattcaaaacattaattttaac c.*4080
. . . g.189374
aaaaagcttttccccgttatttttctgcaa c.*4110
(downstream sequence)
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