(used for variant description)
(last modified June 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002253.2 in the KDR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012004.1, covering KDR transcript NM_002253.2.
(upstream sequence)
g.5002
ac c.-301
. . . . . . g.5062
tgagtcccgggaccccgggagagcggtcaatgtgtggtcgctgcgtttcctctgcctgcg c.-241
. . . . . . g.5122
ccgggcatcacttgcgcgccgcagaaagtccgtctggcagcctggatatcctctcctacc c.-181
. . . . . . g.5182
ggcacccgcagacgcccctgcagccgcggtcggcgcccgggctccctagccctgtgcgct c.-121
. . . . . . g.5242
caactgtcctgcgctgcggggtgccgcgagttccacctccgcgcctccttctctagacag c.-61
. . . . . . g.5302
gcgctgggagaaagaaccggctcccgagttctgggcatttcgcccggctcgaggtgcagg c.-1
. . . . . . g.5362
ATGCAGAGCAAGGTGCTGCTGGCCGTCGCCCTGTGGCTCTGCGTGGAGACCCGGGCCGCC c.60
M Q S K V L L A V A L W L C V E T R A A p.20
| 02. . . . . . g.9458
TCTGTGG | GTTTGCCTAGTGTTTCTCTTGATCTGCCCAGGCTCAGCATACAAAAAGACATA c.120
S V G | L P S V S L D L P R L S I Q K D I p.40
. . . . | 03 . . g.11814
CTTACAATTAAGGCTAATACAACTCTTCAAATTACTTGCAG | GGGACAGAGGGACTTGGAC c.180
L T I K A N T T L Q I T C R | G Q R D L D p.60
. . . . . . g.11874
TGGCTTTGGCCCAATAATCAGAGTGGCAGTGAGCAAAGGGTGGAGGTGACTGAGTGCAGC c.240
W L W P N N Q S G S E Q R V E V T E C S p.80
. . . . . . g.11934
GATGGCCTCTTCTGTAAGACACTCACAATTCCAAAAGTGATCGGAAATGACACTGGAGCC c.300
D G L F C K T L T I P K V I G N D T G A p.100
. . . . . | 04 g.15186
TACAAGTGCTTCTACCGGGAAACTGACTTGGCCTCGGTCATTTATGTCTATGTTCAAG | AT c.360
Y K C F Y R E T D L A S V I Y V Y V Q D | p.120
. . . . . . g.15246
TACAGATCTCCATTTATTGCTTCTGTTAGTGACCAACATGGAGTCGTGTACATTACTGAG c.420
Y R S P F I A S V S D Q H G V V Y I T E p.140
. . . . . . g.15306
AACAAAAACAAAACTGTGGTGATTCCATGTCTCGGGTCCATTTCAAATCTCAACGTGTCA c.480
N K N K T V V I P C L G S I S N L N V S p.160
| 05 . . . . . g.15604
CTTTGTGCA | AGATACCCAGAAAAGAGATTTGTTCCTGATGGTAACAGAATTTCCTGGGAC c.540
L C A | R Y P E K R F V P D G N R I S W D p.180
. . . . . . g.15664
AGCAAGAAGGGCTTTACTATTCCCAGCTACATGATCAGCTATGCTGGCATGGTCTTCTGT c.600
S K K G F T I P S Y M I S Y A G M V F C p.200
. . . . . | 06 g.16332
GAAGCAAAAATTAATGATGAAAGTTACCAGTCTATTATGTACATAGTTGTCGTTGTAG | GG c.660
E A K I N D E S Y Q S I M Y I V V V V G | p.220
. . . . . . g.16392
TATAGGATTTATGATGTGGTTCTGAGTCCGTCTCATGGAATTGAACTATCTGTTGGAGAA c.720
Y R I Y D V V L S P S H G I E L S V G E p.240
. . . . . . g.16452
AAGCTTGTCTTAAATTGTACAGCAAGAACTGAACTAAATGTGGGGATTGACTTCAACTGG c.780
K L V L N C T A R T E L N V G I D F N W p.260
. | 07 . . . . g.17156
GAATACCCTTCTTCGAAG | CATCAGCATAAGAAACTTGTAAACCGAGACCTAAAAACCCAG c.840
E Y P S S K | H Q H K K L V N R D L K T Q p.280
. . . . . . g.17216
TCTGGGAGTGAGATGAAGAAATTTTTGAGCACCTTAACTATAGATGGTGTAACCCGGAGT c.900
S G S E M K K F L S T L T I D G V T R S p.300
. . . . . . g.17276
GACCAAGGATTGTACACCTGTGCAGCATCCAGTGGGCTGATGACCAAGAAGAACAGCACA c.960
D Q G L Y T C A A S S G L M T K K N S T p.320
. | 08 . . . . . g.19871
TTTGTCAGGGTCCATG | AAAAACCTTTTGTTGCTTTTGGAAGTGGCATGGAATCTCTGGTG c.1020
F V R V H E | K P F V A F G S G M E S L V p.340
. . . . . . g.19931
GAAGCCACGGTGGGGGAGCGTGTCAGAATCCCTGCGAAGTACCTTGGTTACCCACCCCCA c.1080
E A T V G E R V R I P A K Y L G Y P P P p.360
. | 09 . . . . . g.20078
GAAATAAAATG | GTATAAAAATGGAATACCCCTTGAGTCCAATCACACAATTAAAGCGGGG c.1140
E I K W | Y K N G I P L E S N H T I K A G p.380
. . . . . . g.20138
CATGTACTGACGATTATGGAAGTGAGTGAAAGAGACACAGGAAATTACACTGTCATCCTT c.1200
H V L T I M E V S E R D T G N Y T V I L p.400
. . . . . | 10 . g.22707
ACCAATCCCATTTCAAAGGAGAAGCAGAGCCATGTGGTCTCTCTGGTTGTGTATG | TCCCA c.1260
T N P I S K E K Q S H V V S L V V Y V | P p.420
. . . . . . g.22767
CCCCAGATTGGTGAGAAATCTCTAATCTCTCCTGTGGATTCCTACCAGTACGGCACCACT c.1320
P Q I G E K S L I S P V D S Y Q Y G T T p.440
. . . . . . g.22827
CAAACGCTGACATGTACGGTCTATGCCATTCCTCCCCCGCATCACATCCACTGGTATTGG c.1380
Q T L T C T V Y A I P P P H H I H W Y W p.460
. . . | 11 . . . g.23813
CAGTTGGAGGAAGAGTGCGCCAACGAGCCCAG | CCAAGCTGTCTCAGTGACAAACCCATAC c.1440
Q L E E E C A N E P S | Q A V S V T N P Y p.480
. . . . . . g.23873
CCTTGTGAAGAATGGAGAAGTGTGGAGGACTTCCAGGGAGGAAATAAAATTGAAGTTAAT c.1500
P C E E W R S V E D F Q G G N K I E V N p.500
. . . | 12 . . . g.24679
AAAAATCAATTTGCTCTAATTGAAGGAAAAAACAAA | ACTGTAAGTACCCTTGTTATCCAA c.1560
K N Q F A L I E G K N K | T V S T L V I Q p.520
. . . . . . g.24739
GCGGCAAATGTGTCAGCTTTGTACAAATGTGAAGCGGTCAACAAAGTCGGGAGAGGAGAG c.1620
A A N V S A L Y K C E A V N K V G R G E p.540
. . | 13 . . . . g.25646
AGGGTGATCTCCTTCCACGTGACCA | GGGGTCCTGAAATTACTTTGCAACCTGACATGCAG c.1680
R V I S F H V T R | G P E I T L Q P D M Q p.560
. . . . . . g.25706
CCCACTGAGCAGGAGAGCGTGTCTTTGTGGTGCACTGCAGACAGATCTACGTTTGAGAAC c.1740
P T E Q E S V S L W C T A D R S T F E N p.580
. . . . . . g.25766
CTCACATGGTACAAGCTTGGCCCACAGCCTCTGCCAATCCATGTGGGAGAGTTGCCCACA c.1800
L T W Y K L G P Q P L P I H V G E L P T p.600
. . . . . . g.25826
CCTGTTTGCAAGAACTTGGATACTCTTTGGAAATTGAATGCCACCATGTTCTCTAATAGC c.1860
P V C K N L D T L W K L N A T M F S N S p.620
. . . . . . g.25886
ACAAATGACATTTTGATCATGGAGCTTAAGAATGCATCCTTGCAGGACCAAGGAGACTAT c.1920
T N D I L I M E L K N A S L Q D Q G D Y p.640
. . . . . . g.25946
GTCTGCCTTGCTCAAGACAGGAAGACCAAGAAAAGACATTGCGTGGTCAGGCAGCTCACA c.1980
V C L A Q D R K T K K R H C V V R Q L T p.660
| 14. . . . . . g.28140
GTCCTAG | AGCGTGTGGCACCCACGATCACAGGAAACCTGGAGAATCAGACGACAAGTATT c.2040
V L E | R V A P T I T G N L E N Q T T S I p.680
. . . . . . g.28200
GGGGAAAGCATCGAAGTCTCATGCACGGCATCTGGGAATCCCCCTCCACAGATCATGTGG c.2100
G E S I E V S C T A S G N P P P Q I M W p.700
. . . | 15 . . . g.28593
TTTAAAGATAATGAGACCCTTGTAGAAGACTCAG | GCATTGTATTGAAGGATGGGAACCGG c.2160
F K D N E T L V E D S G | I V L K D G N R p.720
. . . . . . g.28653
AACCTCACTATCCGCAGAGTGAGGAAGGAGGACGAAGGCCTCTACACCTGCCAGGCATGC c.2220
N L T I R R V R K E D E G L Y T C Q A C p.740
. . . . | 16 . . g.31806
AGTGTTCTTGGCTGTGCAAAAGTGGAGGCATTTTTCATAATAGAAG | GTGCCCAGGAAAAG c.2280
S V L G C A K V E A F F I I E G | A Q E K p.760
. . . . . . g.31866
ACGAACTTGGAAATCATTATTCTAGTAGGCACGGCGGTGATTGCCATGTTCTTCTGGCTA c.2340
T N L E I I I L V G T A V I A M F F W L p.780
. . . | 17 . . . g.32350
CTTCTTGTCATCATCCTACGGACCGTTAAGCGG | GCCAATGGAGGGGAACTGAAGACAGGC c.2400
L L V I I L R T V K R | A N G G E L K T G p.800
. . . . . . g.32410
TACTTGTCCATCGTCATGGATCCAGATGAACTCCCATTGGATGAACATTGTGAACGACTG c.2460
Y L S I V M D P D E L P L D E H C E R L p.820
. . . . | 18 . g.32840
CCTTATGATGCCAGCAAATGGGAATTCCCCAGAGACCGGCTGAAGCTAG | GTAAGCCTCTT c.2520
P Y D A S K W E F P R D R L K L G | K P L p.840
. . . . . . g.32900
GGCCGTGGTGCCTTTGGCCAAGTGATTGAAGCAGATGCCTTTGGAATTGACAAGACAGCA c.2580
G R G A F G Q V I E A D A F G I D K T A p.860
. . . | 19 . . . g.34279
ACTTGCAGGACAGTAGCAGTCAAAATGTTGAAAG | AAGGAGCAACACACAGTGAGCATCGA c.2640
T C R T V A V K M L K E | G A T H S E H R p.880
. . . . . . g.34339
GCTCTCATGTCTGAACTCAAGATCCTCATTCATATTGGTCACCATCTCAATGTGGTCAAC c.2700
A L M S E L K I L I H I G H H L N V V N p.900
. . | 20 . . . g.34962
CTTCTAGGTGCCTGTACCAAGCCAGGAG | GGCCACTCATGGTGATTGTGGAATTCTGCAAA c.2760
L L G A C T K P G G | P L M V I V E F C K p.920
. . . . . | 21. g.35643
TTTGGAAACCTGTCCACTTACCTGAGGAGCAAGAGAAATGAATTTGTCCCCTACAAG | ACC c.2820
F G N L S T Y L R S K R N E F V P Y K | T p.940
. . . . . . g.35703
AAAGGGGCACGATTCCGTCAAGGGAAAGACTACGTTGGAGCAATCCCTGTGGATCTGAAA c.2880
K G A R F R Q G K D Y V G A I P V D L K p.960
. . . . . . g.35763
CGGCGCTTGGACAGCATCACCAGTAGCCAGAGCTCAGCCAGCTCTGGATTTGTGGAGGAG c.2940
R R L D S I T S S Q S S A S S G F V E E p.980
. . . | 22 . . . g.37910
AAGTCCCTCAGTGATGTAGAAGAAGAGGAAG | CTCCTGAAGATCTGTATAAGGACTTCCTG c.3000
K S L S D V E E E E A | P E D L Y K D F L p.1000
. . . . . . g.37970
ACCTTGGAGCATCTCATCTGTTACAGCTTCCAAGTGGCTAAGGGCATGGAGTTCTTGGCA c.3060
T L E H L I C Y S F Q V A K G M E F L A p.1020
| 23 . . . . . g.40568
TCGCGAAAG | TGTATCCACAGGGACCTGGCGGCACGAAATATCCTCTTATCGGAGAAGAAC c.3120
S R K | C I H R D L A A R N I L L S E K N p.1040
. . . . . . g.40628
GTGGTTAAAATCTGTGACTTTGGCTTGGCCCGGGATATTTATAAAGATCCAGATTATGTC c.3180
V V K I C D F G L A R D I Y K D P D Y V p.1060
. | 24 . . . . . g.40841
AGAAAAGGAGAT | GCTCGCCTCCCTTTGAAATGGATGGCCCCAGAAACAATTTTTGACAGA c.3240
R K G D | A R L P L K W M A P E T I F D R p.1080
. . . . . . g.40901
GTGTACACAATCCAGAGTGACGTCTGGTCTTTTGGTGTTTTGCTGTGGGAAATATTTTCC c.3300
V Y T I Q S D V W S F G V L L W E I F S p.1100
| 25 . . . . . . g.41178
TTAG | GTGCTTCTCCATATCCTGGGGTAAAGATTGATGAAGAATTTTGTAGGCGATTGAAA c.3360
L G | A S P Y P G V K I D E E F C R R L K p.1120
. . . . | 26 . . g.41638
GAAGGAACTAGAATGAGGGCCCCTGATTATACTACACCAGAAAT | GTACCAGACCATGCTG c.3420
E G T R M R A P D Y T T P E M | Y Q T M L p.1140
. . . . . . g.41698
GACTGCTGGCACGGGGAGCCCAGTCAGAGACCCACGTTTTCAGAGTTGGTGGAACATTTG c.3480
D C W H G E P S Q R P T F S E L V E H L p.1160
. . . | 27 . . . g.42867
GGAAATCTCTTGCAAGCTAATGCTCAGCAG | GATGGCAAAGACTACATTGTTCTTCCGATA c.3540
G N L L Q A N A Q Q | D G K D Y I V L P I p.1180
. . . . . . g.42927
TCAGAGACTTTGAGCATGGAAGAGGATTCTGGACTCTCTCTGCCTACCTCACCTGTTTCC c.3600
S E T L S M E E D S G L S L P T S P V S p.1200
. . . . . . g.42987
TGTATGGAGGAGGAGGAAGTATGTGACCCCAAATTCCATTATGACAACACAGCAGGAATC c.3660
C M E E E E V C D P K F H Y D N T A G I p.1220
| 28 . . . . . . g.48018
AG | TCAGTATCTGCAGAACAGTAAGCGAAAGAGCCGGCCTGTGAGTGTAAAAACATTTGAA c.3720
S | Q Y L Q N S K R K S R P V S V K T F E p.1240
. . . . | 29 . . g.48572
GATATCCCGTTAGAAGAACCAGAAGTAAAAGTAATCCCAGAT | GACAACCAGACGGACAGT c.3780
D I P L E E P E V K V I P D | D N Q T D S p.1260
. . . . . . g.48632
GGTATGGTTCTTGCCTCAGAAGAGCTGAAAACTTTGGAAGACAGAACCAAATTATCTCCA c.3840
G M V L A S E E L K T L E D R T K L S P p.1280
| 30 . . . . . g.50484
TCTTTTGG | TGGAATGGTGCCCAGCAAAAGCAGGGAGTCTGTGGCATCTGAAGGCTCAAAC c.3900
S F G | G M V P S K S R E S V A S E G S N p.1300
. . . . . . g.50544
CAGACAAGCGGCTACCAGTCCGGATATCACTCCGATGACACAGACACCACCGTGTACTCC c.3960
Q T S G Y Q S G Y H S D D T D T T V Y S p.1320
. . . . . . g.50604
AGTGAGGAAGCAGAACTTTTAAAGCTGATAGAGATTGGAGTGCAAACCGGTAGCACAGCC c.4020
S E E A E L L K L I E I G V Q T G S T A p.1340
. . . . . g.50655
CAGATTCTCCAGCCTGACTCGGGGACCACACTGAGCTCTCCTCCTGTTTAA c.4071
Q I L Q P D S G T T L S S P P V X p.1356
. . . . . . g.50715
aaggaagcatccacacccccaactcctggacatcacatgagaggtgctgctcagattttc c.*60
. . . . . . g.50775
aagtgttgttctttccaccagcaggaagtagccgcatttgattttcatttcgacaacaga c.*120
. . . . . . g.50835
aaaaggacctcggactgcagggagccagtcttctaggcatatcctggaagaggcttgtga c.*180
. . . . . . g.50895
cccaagaatgtgtctgtgtcttctcccagtgttgacctgatcctctttttcattcattta c.*240
. . . . . . g.50955
aaaagcatttatcatgccccctgctgcgggtctcaccatgggtttagaacaaagacgttc c.*300
. . . . . . g.51015
aagaaatggccccatcctcaaagaagtagcagtacctggggagctgacacttctgtaaaa c.*360
. . . . . . g.51075
ctagaagataaaccaggcaatgtaagtgttcgaggtgttgaagatgggaaggatttgcag c.*420
. . . . . . g.51135
ggctgagtctatccaagaggctttgtttaggacgtgggtcccaagccaagccttaagtgt c.*480
. . . . . . g.51195
ggaattcggattgatagaaaggaagactaacgttaccttgctttggagagtactggagcc c.*540
. . . . . . g.51255
tgcaaatgcattgtgtttgctctggtggaggtgggcatggggtctgttctgaaatgtaaa c.*600
. . . . . . g.51315
gggttcagacggggtttctggttttagaaggttgcgtgttcttcgagttgggctaaagta c.*660
. . . . . . g.51375
gagttcgttgtgctgtttctgactcctaatgagagttccttccagaccgttacgtgtctc c.*720
. . . . . . g.51435
ctggccaagccccaggaaggaaatgatgcagctctggctccttgtctcccaggctgatcc c.*780
. . . . . . g.51495
tttattcagaataccacaaagaaaggacattcagctcaaggctccctgccgtgttgaaga c.*840
. . . . . . g.51555
gttctgactgcacaaaccagcttctggtttcttctggaatgaataccctcatatctgtcc c.*900
. . . . . . g.51615
tgatgtgatatgtctgagactgaatgcgggaggttcaatgtgaagctgtgtgtggtgtca c.*960
. . . . . . g.51675
aagtttcaggaaggattttacccttttgttcttccccctgtccccaacccactctcaccc c.*1020
. . . . . . g.51735
cgcaacccatcagtattttagttatttggcctctactccagtaaacctgattgggtttgt c.*1080
. . . . . . g.51795
tcactctctgaatgattattagccagacttcaaaattattttatagcccaaattataaca c.*1140
. . . . . . g.51855
tctattgtattatttagacttttaacatatagagctatttctactgatttttgcccttgt c.*1200
. . . . . . g.51915
tctgtcctttttttcaaaaaagaaaatgtgttttttgtttggtaccatagtgtgaaatgc c.*1260
. . . . . . g.51975
tgggaacaatgactataagacatgctatggcacatatatttatagtctgtttatgtagaa c.*1320
. . . . . . g.52035
acaaatgtaatatattaaagccttatatataatgaactttgtactattcacattttgtat c.*1380
. . . . . . g.52095
cagtattatgtagcataacaaaggtcataatgctttcagcaattgatgtcattttattaa c.*1440
. . . . . . g.52155
agaacattgaaaaacttgaaggaatccctttgcaaggttgcattactgtacccatcattt c.*1500
. . . . . . g.52215
ctaaaatggaagagggggtggctgggcacagtggccgacacctaaaaacccagcactttg c.*1560
. . . . . . g.52275
gggggccaaggtgggaggatcgcttgagcccaggagttcaagaccagtctggccaacatg c.*1620
. . . . . . g.52335
gtcagattccatctcaaagaaaaaaggtaaaaataaaataaaatggagaagaaggaatca c.*1680
g.52337
ga c.*1682
(downstream sequence)
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