(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_182925.4 in the FLT4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011536.1, covering FLT4 transcript NM_182925.4.
(upstream sequence)
. g.5019
aggccagccggcgcccgcg c.-61
. . . . . . g.5079
cggacactttcagccccgagccgcggccgctcgggtcggacccacgcgcagcggccggag c.-1
. . . . . | 02 g.22848
ATGCAGCGGGGCGCCGCGCTGTGCCTGCGACTGTGGCTCTGCCTGGGACTCCTGGACG | GC c.60
M Q R G A A L C L R L W L C L G L L D G | p.20
. . . . . . g.22908
CTGGTGAGTGGCTACTCCATGACCCCCCCGACCTTGAACATCACGGAGGAGTCACACGTC c.120
L V S G Y S M T P P T L N I T E E S H V p.40
. . . | 03 . . . g.23850
ATCGACACCGGTGACAGCCTGTCCATCTCCTGCAG | GGGACAGCACCCCCTCGAGTGGGCT c.180
I D T G D S L S I S C R | G Q H P L E W A p.60
. . . . . . g.23910
TGGCCAGGAGCTCAGGAGGCGCCAGCCACCGGAGACAAGGACAGCGAGGACACGGGGGTG c.240
W P G A Q E A P A T G D K D S E D T G V p.80
. . . . . . g.23970
GTGCGAGACTGCGAGGGCACAGACGCCAGGCCCTACTGCAAGGTGTTGCTGCTGCACGAG c.300
V R D C E G T D A R P Y C K V L L L H E p.100
. . . . . . g.24030
GTACATGCCAACGACACAGGCAGCTACGTCTGCTACTACAAGTACATCAAGGCACGCATC c.360
V H A N D T G S Y V C Y Y K Y I K A R I p.120
. . . . | 04 . . g.24307
GAGGGCACCACGGCCGCCAGCTCCTACGTGTTCGTGAGAG | ACTTTGAGCAGCCATTCATC c.420
E G T T A A S S Y V F V R D | F E Q P F I p.140
. . . . . . g.24367
AACAAGCCTGACACGCTCTTGGTCAACAGGAAGGACGCCATGTGGGTGCCCTGTCTGGTG c.480
N K P D T L L V N R K D A M W V P C L V p.160
. . . | 05 . . . g.24546
TCCATCCCCGGCCTCAATGTCACGCTGCGCTCG | CAAAGCTCGGTGCTGTGGCCAGACGGG c.540
S I P G L N V T L R S | Q S S V L W P D G p.180
. . . . . . g.24606
CAGGAGGTGGTGTGGGATGACCGGCGGGGCATGCTCGTGTCCACGCCACTGCTGCACGAT c.600
Q E V V W D D R R G M L V S T P L L H D p.200
. . . . . . g.24666
GCCCTGTACCTGCAGTGCGAGACCACCTGGGGAGACCAGGACTTCCTTTCCAACCCCTTC c.660
A L Y L Q C E T T W G D Q D F L S N P F p.220
. | 06 . . . . . g.24833
CTGGTGCACATCACAG | GCAACGAGCTCTATGACATCCAGCTGTTGCCCAGGAAGTCGCTG c.720
L V H I T G | N E L Y D I Q L L P R K S L p.240
. . . . . . g.24893
GAGCTGCTGGTAGGGGAGAAGCTGGTCCTGAACTGCACCGTGTGGGCTGAGTTTAACTCA c.780
E L L V G E K L V L N C T V W A E F N S p.260
. . . | 07 . . . g.25221
GGTGTCACCTTTGACTGGGACTACCCAGGGAAGCAG | GCAGAGCGGGGTAAGTGGGTGCCC c.840
G V T F D W D Y P G K Q | A E R G K W V P p.280
. . . . . . g.25281
GAGCGACGCTCCCAGCAGACCCACACAGAACTCTCCAGCATCCTGACCATCCACAACGTC c.900
E R R S Q Q T H T E L S S I L T I H N V p.300
. . . . . . g.25341
AGCCAGCACGACCTGGGCTCGTATGTGTGCAAGGCCAACAACGGCATCCAGCGATTTCGG c.960
S Q H D L G S Y V C K A N N G I Q R F R p.320
. . | 08 . . . . g.25660
GAGAGCACCGAGGTCATTGTGCATG | AAAATCCCTTCATCAGCGTCGAGTGGCTCAAAGGA c.1020
E S T E V I V H E | N P F I S V E W L K G p.340
. . . . . . g.25720
CCCATCCTGGAGGCCACGGCAGGAGACGAGCTGGTGAAGCTGCCCGTGAAGCTGGCAGCG c.1080
P I L E A T A G D E L V K L P V K L A A p.360
. . | 09 . . . . g.28396
TACCCCCCGCCCGAGTTCCAGTG | GTACAAGGATGGAAAGGCACTGTCCGGGCGCCACAGT c.1140
Y P P P E F Q W | Y K D G K A L S G R H S p.380
. . . . . . g.28456
CCACATGCCCTGGTGCTCAAGGAGGTGACAGAGGCCAGCACAGGCACCTACACCCTCGCC c.1200
P H A L V L K E V T E A S T G T Y T L A p.400
. . . . . | 10 g.28595
CTGTGGAACTCCGCTGCTGGCCTGAGGCGCAACATCAGCCTGGAGCTGGTGGTGAATG | TG c.1260
L W N S A A G L R R N I S L E L V V N V | p.420
. . . . . . g.28655
CCCCCCCAGATACATGAGAAGGAGGCCTCCTCCCCCAGCATCTACTCGCGTCACAGCCGC c.1320
P P Q I H E K E A S S P S I Y S R H S R p.440
. . . . . . g.28715
CAGGCCCTCACCTGCACGGCCTACGGGGTGCCCCTGCCTCTCAGCATCCAGTGGCACTGG c.1380
Q A L T C T A Y G V P L P L S I Q W H W p.460
. . . . | 11 . . g.30582
CGGCCCTGGACACCCTGCAAGATGTTTGCCCAGCGTAGTCT | CCGGCGGCGGCAGCAGCAA c.1440
R P W T P C K M F A Q R S L | R R R Q Q Q p.480
. . . . . . g.30642
GACCTCATGCCACAGTGCCGTGACTGGAGGGCGGTGACCACGCAGGATGCCGTGAACCCC c.1500
D L M P Q C R D W R A V T T Q D A V N P p.500
. . . . | 12 . g.31797
ATCGAGAGCCTGGACACCTGGACCGAGTTTGTGGAGGGAAAGAATAAG | ACTGTGAGCAAG c.1560
I E S L D T W T E F V E G K N K | T V S K p.520
. . . . . . g.31857
CTGGTGATCCAGAATGCCAACGTGTCTGCCATGTACAAGTGTGTGGTCTCCAACAAGGTG c.1620
L V I Q N A N V S A M Y K C V V S N K V p.540
. . . | 13. . . g.32743
GGCCAGGATGAGCGGCTCATCTACTTCTATGTGACCA | CCATCCCCGACGGCTTCACCATC c.1680
G Q D E R L I Y F Y V T T | I P D G F T I p.560
. . . . . . g.32803
GAATCCAAGCCATCCGAGGAGCTACTAGAGGGCCAGCCGGTGCTCCTGAGCTGCCAAGCC c.1740
E S K P S E E L L E G Q P V L L S C Q A p.580
. . . . . . g.32863
GACAGCTACAAGTACGAGCATCTGCGCTGGTACCGCCTCAACCTGTCCACGCTGCACGAT c.1800
D S Y K Y E H L R W Y R L N L S T L H D p.600
. . . . . . g.32923
GCGCACGGGAACCCGCTTCTGCTCGACTGCAAGAACGTGCATCTGTTCGCCACCCCTCTG c.1860
A H G N P L L L D C K N V H L F A T P L p.620
. . . . . . g.32983
GCCGCCAGCCTGGAGGAGGTGGCACCTGGGGCGCGCCACGCCACGCTCAGCCTGAGTATC c.1920
A A S L E E V A P G A R H A T L S L S I p.640
. . . . . . g.33043
CCCCGCGTCGCGCCCGAGCACGAGGGCCACTATGTGTGCGAAGTGCAAGACCGGCGCAGC c.1980
P R V A P E H E G H Y V C E V Q D R R S p.660
. . . . | 14 . . g.33392
CATGACAAGCACTGCCACAAGAAGTACCTGTCGGTGCAGG | CCCTGGAAGCCCCTCGGCTC c.2040
H D K H C H K K Y L S V Q A | L E A P R L p.680
. . . . . . g.33452
ACGCAGAACTTGACCGACCTCCTGGTGAACGTGAGCGACTCGCTGGAGATGCAGTGCTTG c.2100
T Q N L T D L L V N V S D S L E M Q C L p.700
. . . . . . g.33512
GTGGCCGGAGCGCACGCGCCCAGCATCGTGTGGTACAAAGACGAGAGGCTGCTGGAGGAA c.2160
V A G A H A P S I V W Y K D E R L L E E p.720
| 15. . . . . . g.33670
AAGTCTG | GAGTCGACTTGGCGGACTCCAACCAGAAGCTGAGCATCCAGCGCGTGCGCGAG c.2220
K S G | V D L A D S N Q K L S I Q R V R E p.740
. . . . . . g.33730
GAGGATGCGGGACGCTATCTGTGCAGCGTGTGCAACGCCAAGGGCTGCGTCAACTCCTCC c.2280
E D A G R Y L C S V C N A K G C V N S S p.760
. | 16 . . . . g.33950
GCCAGCGTGGCCGTGGAAG | GCTCCGAGGATAAGGGCAGCATGGAGATCGTGATCCTTGTC c.2340
A S V A V E G | S E D K G S M E I V I L V p.780
. . . . . . g.34010
GGTACCGGCGTCATCGCTGTCTTCTTCTGGGTCCTCCTCCTCCTCATCTTCTGTAACATG c.2400
G T G V I A V F F W V L L L L I F C N M p.800
| 17 . . . . . . g.34370
AGGAGG | CCGGCCCACGCAGACATCAAGACGGGCTACCTGTCCATCATCATGGACCCCGGG c.2460
R R | P A H A D I K T G Y L S I I M D P G p.820
. . . . . . g.34430
GAGGTGCCTCTGGAGGAGCAATGCGAATACCTGTCCTACGATGCCAGCCAGTGGGAATTC c.2520
E V P L E E Q C E Y L S Y D A S Q W E F p.840
. . | 18 . . . . g.34893
CCCCGAGAGCGGCTGCACCTGG | GGAGAGTGCTCGGCTACGGCGCCTTCGGGAAGGTGGTG c.2580
P R E R L H L G | R V L G Y G A F G K V V p.860
. . . . . . g.34953
GAAGCCTCCGCTTTCGGCATCCACAAGGGCAGCAGCTGTGACACCGTGGCCGTGAAAATG c.2640
E A S A F G I H K G S S C D T V A V K M p.880
| 19. . . . . . g.35311
CTGAAAG | AGGGCGCCACGGCCAGCGAGCACCGCGCGCTGATGTCGGAGCTCAAGATCCTC c.2700
L K E | G A T A S E H R A L M S E L K I L p.900
. . . . . . g.35371
ATTCACATCGGCAACCACCTCAACGTGGTCAACCTCCTCGGGGCGTGCACCAAGCCGCAG c.2760
I H I G N H L N V V N L L G A C T K P Q p.920
| 20 . . . . . . g.35574
G | GCCCCCTCATGGTGATCGTGGAGTTCTGCAAGTACGGCAACCTCTCCAACTTCCTGCGC c.2820
G | P L M V I V E F C K Y G N L S N F L R p.940
. . . | 21 . . . g.35734
GCCAAGCGGGACGCCTTCAGCCCCTGCGCG | GAGAAGTCTCCCGAGCAGCGCGGACGCTTC c.2880
A K R D A F S P C A | E K S P E Q R G R F p.960
. . . . . . g.35794
CGCGCCATGGTGGAGCTCGCCAGGCTGGATCGGAGGCGGCCGGGGAGCAGCGACAGGGTC c.2940
R A M V E L A R L D R R R P G S S D R V p.980
. . . . . . g.35854
CTCTTCGCGCGGTTCTCGAAGACCGAGGGCGGAGCGAGGCGGGCTTCTCCAGACCAAGAA c.3000
L F A R F S K T E G G A R R A S P D Q E p.1000
| 22 . . . . . . g.37689
G | CTGAGGACCTGTGGCTGAGCCCGCTGACCATGGAAGATCTTGTCTGCTACAGCTTCCAG c.3060
A | E D L W L S P L T M E D L V C Y S F Q p.1020
. . . | 23 . . . g.38159
GTGGCCAGAGGGATGGAGTTCCTGGCTTCCCGAAAG | TGCATCCACAGAGACCTGGCTGCT c.3120
V A R G M E F L A S R K | C I H R D L A A p.1040
. . . . . . g.38219
CGGAACATTCTGCTGTCGGAAAGCGACGTGGTGAAGATCTGTGACTTTGGCCTTGCCCGG c.3180
R N I L L S E S D V V K I C D F G L A R p.1060
. . . | 24 . . g.40466
GACATCTACAAAGACCCCGACTACGTCCGCAAGGGCAGT | GCCCGGCTGCCCCTGAAGTGG c.3240
D I Y K D P D Y V R K G S | A R L P L K W p.1080
. . . . . . g.40526
ATGGCCCCTGAAAGCATCTTCGACAAGGTGTACACCACGCAGAGTGACGTGTGGTCCTTT c.3300
M A P E S I F D K V Y T T Q S D V W S F p.1100
. . . | 25 . . . g.41543
GGGGTGCTTCTCTGGGAGATCTTCTCTCTGG | GGGCCTCCCCGTACCCTGGGGTGCAGATC c.3360
G V L L W E I F S L G | A S P Y P G V Q I p.1120
. . . . . . g.41603
AATGAGGAGTTCTGCCAGCGGCTGAGAGACGGCACAAGGATGAGGGCCCCGGAGCTGGCC c.3420
N E E F C Q R L R D G T R M R A P E L A p.1140
. | 26 . . . . . g.42062
ACTCCCGCCAT | ACGCCGCATCATGCTGAACTGCTGGTCCGGAGACCCCAAGGCGAGACCT c.3480
T P A I | R R I M L N C W S G D P K A R P p.1160
. . . . . | 27. g.43148
GCATTCTCGGAGCTGGTGGAGATCCTGGGGGACCTGCTCCAGGGCAGGGGCCTGCAA | GAG c.3540
A F S E L V E I L G D L L Q G R G L Q | E p.1180
. . . . . . g.43208
GAAGAGGAGGTCTGCATGGCCCCGCGCAGCTCTCAGAGCTCAGAAGAGGGCAGCTTCTCG c.3600
E E E V C M A P R S S Q S S E E G S F S p.1200
. . . . . . g.43268
CAGGTGTCCACCATGGCCCTACACATCGCCCAGGCTGACGCTGAGGACAGCCCGCCAAGC c.3660
Q V S T M A L H I A Q A D A E D S P P S p.1220
. . | 28 . . . . g.44633
CTGCAGCGCCACAGCCTGGCCGCCAG | GTATTACAACTGGGTGTCCTTTCCCGGGTGCCTG c.3720
L Q R H S L A A R | Y Y N W V S F P G C L p.1240
. . . . . . g.44693
GCCAGAGGGGCTGAGACCCGTGGTTCCTCCAGGATGAAGACATTTGAGGAATTCCCCATG c.3780
A R G A E T R G S S R M K T F E E F P M p.1260
. . | 29. . . . g.45604
ACCCCAACGACCTACAAAGGCTCTGTG | GACAACCAGACAGACAGTGGGATGGTGCTGGCC c.3840
T P T T Y K G S V | D N Q T D S G M V L A p.1280
. . . . . | 30 . g.51241
TCGGAGGAGTTTGAGCAGATAGAGAGCAGGCATAGACAAGAAAGCGGCTTCAG | CTGTAAA c.3900
S E E F E Q I E S R H R Q E S G F S | C K p.1300
. . . . . . g.51301
GGACCTGGCCAGAATGTGGCTGTGACCAGGGCACACCCTGACTCCCAAGGGAGGCGGCGG c.3960
G P G Q N V A V T R A H P D S Q G R R R p.1320
. . . . . . g.51361
CGGCCTGAGCGGGGGGCCCGAGGAGGCCAGGTGTTTTACAACAGCGAGTATGGGGAGCTG c.4020
R P E R G A R G G Q V F Y N S E Y G E L p.1340
. . . . . . g.51421
TCGGAGCCAAGCGAGGAGGACCACTGCTCCCCGTCTGCCCGCGTGACTTTCTTCACAGAC c.4080
S E P S E E D H C S P S A R V T F F T D p.1360
. g.51433
AACAGCTACTAA c.4092
N S Y X p.1363
. . . . . . g.51493
gcagcatcggacaagacccccagcacttgggggttcaggcccggcagggcgggcagaggg c.*60
. . . . . . g.51553
ctggaggcccaggctgggaactcatctggttgaactctggtggcacaggagtgtcctctt c.*120
. . . . . . g.51613
ccctctctgcagacttcccagctaggaagagcaggactccaggcccaaggctcccggaat c.*180
. . . . . . g.51673
tccgtcaccacgactggccagggccacgctccagctgccccggcccctccccctgagatt c.*240
. . . . . . g.51733
cagatgtcatttagttcagcatccgcaggtgctggtcccggggccagcacttccatggga c.*300
. . . . . . g.51793
atgtctctttggcgacctcctttcatcacactgggtggtggcctggtccctgttttccca c.*360
. . . . . . g.51853
cgaggaatctgtgggtctgggagtcacacagtgttggaggttaaggcatacgagagcaga c.*420
. . . . . . g.51913
ggtctcccaaacgccctttcctcctcaggcacacagctactctccccacgagggctggct c.*480
. . . . . . g.51973
ggcctcacccacccctgcacagttgaagggaggggctgtgtttccatctcaaagaaggca c.*540
. . . . . . g.52033
tttgcagggtcctcttctgggcctgaccaaacagccaactagcccctggggtggccacca c.*600
. . . . . . g.52093
gtatgacagtattatacgctggcaacacagaggcagcccgcacacctgcgcctgggtgtt c.*660
. . . . . . g.52153
gagagccatcctgcaagtctttttcaacagaacttcacagactgttagagctgctgagaa c.*720
. . . . . . g.52213
gaatttgctttccgaattcagcctggaaggcgcccagggacagctgtactgagtctagat c.*780
. . . . . . g.52273
gactctgacccccgccccaggtcaaggccagcagagcagtcagtgcctctggagaaggcc c.*840
. . . . . . g.52333
cttgctctcccacctggcccagactccgaggagcctgggtctggagctgccggtctggtt c.*900
. . . . . . g.52393
cttccctttagagcccggatctgccacctgcggcccctcccaagccgtgaaccagctcat c.*960
. . . . . . g.52453
gagagatgaacactgtgggatccactcaggaaggctcggggctggcacaaaggaccaccc c.*1020
. . . . . . g.52513
agcattgccctgtgccacccagcactcagtggacattctggggacctgccttcagccttt c.*1080
. . . . . . g.52573
tcctgccctgtgcctgacatcagcaccctggctggtcagaatgccgccctcccagaggag c.*1140
. . . . . . g.52633
cagccgagagatcccctgaaggctggaggcattctgctcaggacccctatcccagctcac c.*1200
. . . . . . g.52693
agtgcccaaccatctcaccaggagaaagagccacatccccacgttaggaccacggagact c.*1260
. . . . . . g.52753
gaccaccaccctgaccccccaaacccacgcaccagacgcttgcaggacaggcgccgcgca c.*1320
. . . . . . g.52813
gcgggcaggggcttgcccggccgaccctcccctccccacctcccccactgcgcgttactc c.*1380
. . . . . . g.52873
caggatatgccgagtgcacgtataaggtcatcttcgtcgtccccgtggacctcccccttc c.*1440
. . . . . . g.52933
ctctgcacgtcgtccaacgtgggactggcgtgtcaggcttccctgggaggatctggaggt c.*1500
. . . . . . g.52993
tgttctctgcagagaaccagcctggctcctggcgcgcacctctgctcccttctcctcact c.*1560
. . . . . . g.53053
acccacccacgcatgtaccgggaaaaaaactactatgcccttctagaccatgttctgaga c.*1620
. . . . . . g.53113
aaagatcgaaaatatttaacaagagataataataaatctgatgccggtctttgtgtgtgt c.*1680
g.53119
tgcgga c.*1686
(downstream sequence)
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