(used for variant description)
(last modified August 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004119.2 in the FLT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007066.1, covering FLT3 transcript NM_004119.2.
(upstream sequence)
. . g.4998
acctgcagcgcgaggcgcgccg c.-61
. . . . . . g.5058
ctccaggcggcatcgcagggctgggccggcgcggcctggggaccccgggctccggaggcc c.-1
. . . . | 02 . . g.34973
ATGCCGGCGTTGGCGCGCGACGGCGGCCAGCTGCCGCTGCTCG | TTGTTTTTTCTGCAATG c.60
M P A L A R D G G Q L P L L V | V F S A M p.20
. . . . . . g.35033
ATATTTGGGACTATTACAAATCAAGATCTGCCTGTGATCAAGTGTGTTTTAATCAATCAT c.120
I F G T I T N Q D L P V I K C V L I N H p.40
. . . . | 03 . . g.43514
AAGAACAATGATTCATCAGTGGGGAAGTCATCATCATATCCCATG | GTATCAGAATCCCCG c.180
K N N D S S V G K S S S Y P M | V S E S P p.60
. . . . . . g.43574
GAAGACCTCGGGTGTGCGTTGAGACCCCAGAGCTCAGGGACAGTGTACGAAGCTGCCGCT c.240
E D L G C A L R P Q S S G T V Y E A A A p.80
. . . . . . g.43634
GTGGAAGTGGATGTATCTGCTTCCATCACACTGCAAGTGCTGGTCGACGCCCCAGGGAAC c.300
V E V D V S A S I T L Q V L V D A P G N p.100
. . . . . . g.43694
ATTTCCTGTCTCTGGGTCTTTAAGCACAGCTCCCTGAATTGCCAGCCACATTTTGATTTA c.360
I S C L W V F K H S S L N C Q P H F D L p.120
| 04 . . . . . g.48158
CAAAACAG | AGGAGTTGTTTCCATGGTCATTTTGAAAATGACAGAAACCCAAGCTGGAGAA c.420
Q N R | G V V S M V I L K M T E T Q A G E p.140
. . . . . . g.48218
TACCTACTTTTTATTCAGAGTGAAGCTACCAATTACACAATATTGTTTACAGTGAGTATA c.480
Y L L F I Q S E A T N Y T I L F T V S I p.160
| 05 . . . . . . g.52950
AGAA | ATACCCTGCTTTACACATTAAGAAGACCTTACTTTAGAAAAATGGAAAACCAGGAC c.540
R N | T L L Y T L R R P Y F R K M E N Q D p.180
. . . . . . g.53010
GCCCTGGTCTGCATATCTGAGAGCGTTCCAGAGCCGATCGTGGAATGGGTGCTTTGCGAT c.600
A L V C I S E S V P E P I V E W V L C D p.200
. | 06 . . . . . g.55392
TCACAGGGGGAAAG | CTGTAAAGAAGAAAGTCCAGCTGTTGTTAAAAAGGAGGAAAAAGTG c.660
S Q G E S | C K E E S P A V V K K E E K V p.220
. . . . . . g.55452
CTTCATGAATTATTTGGGACGGACATAAGGTGCTGTGCCAGAAATGAACTGGGCAGGGAA c.720
L H E L F G T D I R C C A R N E L G R E p.240
. . | 07 . . . . g.55832
TGCACCAGGCTGTTCACAATAG | ATCTAAATCAAACTCCTCAGACCACATTGCCACAATTA c.780
C T R L F T I D | L N Q T P Q T T L P Q L p.260
. . . . . . g.55892
TTTCTTAAAGTAGGGGAACCCTTATGGATAAGGTGCAAAGCTGTTCATGTGAACCATGGA c.840
F L K V G E P L W I R C K A V H V N H G p.280
. . . . | 08 . . g.56049
TTCGGGCTCACCTGGGAATTAGAAAACAAAGCACTCGAGGAG | GGCAACTACTTTGAGATG c.900
F G L T W E L E N K A L E E | G N Y F E M p.300
. . . . . . g.56109
AGTACCTATTCAACAAACAGAACTATGATACGGATTCTGTTTGCTTTTGTATCATCAGTG c.960
S T Y S T N R T M I R I L F A F V S S V p.320
. . . . . . g.56169
GCAAGAAACGACACCGGATACTACACTTGTTCCTCTTCAAAGCATCCCAGTCAATCAGCT c.1020
A R N D T G Y Y T C S S S K H P S Q S A p.340
. | 09 . . . . . g.57169
TTGGTTACCATCGTAG | AAAAGGGATTTATAAATGCTACCAATTCAAGTGAAGATTATGAA c.1080
L V T I V E | K G F I N A T N S S E D Y E p.360
. . . . . . g.57229
ATTGACCAATATGAAGAGTTTTGTTTTTCTGTCAGGTTTAAAGCCTACCCACAAATCAGA c.1140
I D Q Y E E F C F S V R F K A Y P Q I R p.380
. . . . . . g.57289
TGTACGTGGACCTTCTCTCGAAAATCATTTCCTTGTGAGCAAAAGGGTCTTGATAACGGA c.1200
C T W T F S R K S F P C E Q K G L D N G p.400
| 10 . . . . . . g.68335
TACAG | CATATCCAAGTTTTGCAATCATAAGCACCAGCCAGGAGAATATATATTCCATGCA c.1260
Y S | I S K F C N H K H Q P G E Y I F H A p.420
. . . . | 11 . g.69536
GAAAATGATGATGCCCAATTTACCAAAATGTTCACGCTGAATATAAGAA | GGAAACCTCAA c.1320
E N D D A Q F T K M F T L N I R R | K P Q p.440
. . . . . . g.69596
GTGCTCGCAGAAGCATCGGCAAGTCAGGCGTCCTGTTTCTCGGATGGATACCCATTACCA c.1380
V L A E A S A S Q A S C F S D G Y P L P p.460
. . . | 12 . . g.69917
TCTTGGACCTGGAAGAAGTGTTCAGACAAGTCTCCCAA | CTGCACAGAAGAGATCACAGAA c.1440
S W T W K K C S D K S P N | C T E E I T E p.480
. . . . . . g.69977
GGAGTCTGGAATAGAAAGGCTAACAGAAAAGTGTTTGGACAGTGGGTGTCGAGCAGTACT c.1500
G V W N R K A N R K V F G Q W V S S S T p.500
. . . . . . g.70037
CTAAACATGAGTGAAGCCATAAAAGGGTTCCTGGTCAAGTGCTGTGCATACAATTCCCTT c.1560
L N M S E A I K G F L V K C C A Y N S L p.520
. . . | 13. . . g.71184
GGCACATCTTGTGAGACGATCCTTTTAAACTCTCCAG | GCCCCTTCCCTTTCATCCAAGAC c.1620
G T S C E T I L L N S P G | P F P F I Q D p.540
. . . . . . g.71244
AACATCTCATTCTATGCAACAATTGGTGTTTGTCTCCTCTTCATTGTCGTTTTAACCCTG c.1680
N I S F Y A T I G V C L L F I V V L T L p.560
. . | 14 . . . . g.71390
CTAATTTGTCACAAGTACAAAAAG | CAATTTAGGTATGAAAGCCAGCTACAGATGGTACAG c.1740
L I C H K Y K K | Q F R Y E S Q L Q M V Q p.580
. . . . . . g.71450
GTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAT c.1800
V T G S S D N E Y F Y V D F R E Y E Y D p.600
. . . | 15. . . g.71600
CTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTG | GGAAGGTACTAGGATCAGGTGCT c.1860
L K W E F P R E N L E F G | K V L G S G A p.620
. . . . . . g.71660
TTTGGAAAAGTGATGAACGCAACAGCTTATGGAATTAGCAAAACAGGAGTCTCAATCCAG c.1920
F G K V M N A T A Y G I S K T G V S I Q p.640
. . | 16 . . . . g.77318
GTTGCCGTCAAAATGCTGAAAG | AAAAAGCAGACAGCTCTGAAAGAGAGGCACTCATGTCA c.1980
V A V K M L K E | K A D S S E R E A L M S p.660
. . . . . . g.77378
GAACTCAAGATGATGACCCAGCTGGGAAGCCACGAGAATATTGTGAACCTGCTGGGGGCG c.2040
E L K M M T Q L G S H E N I V N L L G A p.680
. | 17 . . . . . g.78374
TGCACACTGTCAG | GACCAATTTACTTGATTTTTGAATACTGTTGCTATGGTGATCTTCTC c.2100
C T L S G | P I Y L I F E Y C C Y G D L L p.700
. . . . . . g.78434
AACTATCTAAGAAGTAAAAGAGAAAAATTTCACAGGACTTGGACAGAGATTTTCAAGGAA c.2160
N Y L R S K R E K F H R T W T E I F K E p.720
. . . . | 18. . g.80638
CACAATTTCAGTTTTTACCCCACTTTCCAATCACATCCAAATTCCAG | CATGCCTGGTTCA c.2220
H N F S F Y P T F Q S H P N S S | M P G S p.740
. . . . . . g.80698
AGAGAAGTTCAGATACACCCGGACTCGGATCAAATCTCAGGGCTTCATGGGAATTCATTT c.2280
R E V Q I H P D S D Q I S G L H G N S F p.760
. | 19 . . . . . g.82141
CACTCTGAAG | ATGAAATTGAATATGAAAACCAAAAAAGGCTGGAAGAAGAGGAGGACTTG c.2340
H S E D | E I E Y E N Q K R L E E E E D L p.780
. . . . . . g.82201
AATGTGCTTACATTTGAAGATCTTCTTTGCTTTGCATATCAAGTTGCCAAAGGAATGGAA c.2400
N V L T F E D L L C F A Y Q V A K G M E p.800
. | 20 . . . . g.87021
TTTCTGGAATTTAAGTCG | TGTGTTCACAGAGACCTGGCCGCCAGGAACGTGCTTGTCACC c.2460
F L E F K S | C V H R D L A A R N V L V T p.820
. . . . . . g.87081
CACGGGAAAGTGGTGAAGATATGTGACTTTGGATTGGCTCGAGATATCATGAGTGATTCC c.2520
H G K V V K I C D F G L A R D I M S D S p.840
. . | 21 . . . . g.89906
AACTATGTTGTCAGGGGCAAT | GCCCGTCTGCCTGTAAAATGGATGGCCCCCGAAAGCCTG c.2580
N Y V V R G N | A R L P V K W M A P E S L p.860
. . . . . . g.89966
TTTGAAGGCATCTACACCATTAAGAGTGATGTCTGGTCATATGGAATATTACTGTGGGAA c.2640
F E G I Y T I K S D V W S Y G I L L W E p.880
. | 22 . . . . . g.90359
ATCTTCTCACTTG | GTGTGAATCCTTACCCTGGCATTCCGGTTGATGCTAACTTCTACAAA c.2700
I F S L G | V N P Y P G I P V D A N F Y K p.900
. . . . . | 23 . g.91018
CTGATTCAAAATGGATTTAAAATGGATCAGCCATTTTATGCTACAGAAGAAAT | ATACATT c.2760
L I Q N G F K M D Q P F Y A T E E I | Y I p.920
. . . . . . g.91078
ATAATGCAATCCTGCTGGGCTTTTGACTCAAGGAAACGGCCATCCTTCCCTAATTTGACT c.2820
I M Q S C W A F D S R K R P S F P N L T p.940
. . . | 24 . . g.101415
TCGTTTTTAGGATGTCAGCTGGCAGATGCAGAAGAAGCG | ATGTATCAGAATGTGGATGGC c.2880
S F L G C Q L A D A E E A | M Y Q N V D G p.960
. . . . . . g.101475
CGTGTTTCGGAATGTCCTCACACCTACCAAAACAGGCGACCTTTCAGCAGAGAGATGGAT c.2940
R V S E C P H T Y Q N R R P F S R E M D p.980
. . . . g.101517
TTGGGGCTACTCTCTCCGCAGGCTCAGGTCGAAGATTCGTAG c.2982
L G L L S P Q A Q V E D S X p.993
. . . . . . g.101577
aggaacaatttagttttaaggacttcatccctccacctatccctaacaggctgtagatta c.*60
. . . . . . g.101637
ccaaaacaagattaatttcatcactaaaagaaaatctattatcaactgctgcttcaccag c.*120
. . . . . . g.101697
acttttctctagaagctgtctgcgtttactcttgttttcaaagggacttttgtaaaatca c.*180
. . . . . . g.101757
aatcatcctgtcacaaggcaggaggagctgataatgaactttattggagcattgatctgc c.*240
. . . . . . g.101817
atccaaggccttctcaggctggcttgagtgaattgtgtacctgaagtacagtatattctt c.*300
. . . . . . g.101877
gtaaatacataaaacaaaagcattttgctaaggagaagctaatatgattttttaagtcta c.*360
. . . . . . g.101937
tgttttaaaataatatgtaaatttttcagctatttagtgatatattttatgggtgggaat c.*420
. . . . . . g.101997
aaaatttctactacagaattgcccattattgaattatttacatggtataattagggcaag c.*480
. . . . . . g.102057
tcttaactggagttcacgaaccccctgaaattgtgcacccatagccacctacacattcct c.*540
. . . . . . g.102117
tccagagcacgtgtgcttttaccccaagatacaaggaatgtgtaggcagctatggttgtc c.*600
. . . . . . g.102177
acagcctaagatttctgcaacaacaggggttgtattgggggaagtttataatgaataggt c.*660
. . . . . . g.102237
gttctaccataaagagtaatacatcacctagacactttggcggccttcccagactcaggg c.*720
. . . . . g.102295
ccagtcagaagtaacatggaggattagtattttcaataaagttactcttgtccccaca c.*778
(downstream sequence)
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