(used for variant description)
(last modified September 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_019074.3 in the DLL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering DLL4 transcript NM_019074.3.
(upstream sequence)
. . . g.5036
aggtttcagtagcggcgctgcgcgcaggccgggaac c.-301
. . . . . . g.5096
acgaggccaagagccgcagccccagccgccttggtgcagcgtacaccggcactagcccgc c.-241
. . . . . . g.5156
ttgcagccccaggattagacagaagacgcgtcctcggcgcggtcgccgcccagccgtagt c.-181
. . . . . . g.5216
cacctggattacctacagcggcagctgcagcggagccagcgagaaggccaaaggggagca c.-121
. . . . . . g.5276
gcgtcccgagaggagcgcctcttttcagggaccccgccggctggcggacgcgcgggaaag c.-61
. . . . . . g.5336
cggcgtcgcgaacagagccagattgagggcccgcgggtggagagagcgacgcccgagggg c.-1
. . . . . . g.5396
ATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGG c.60
M A A A S R S A S G W A L L L L V A L W p.20
| 02 . . . . . . g.5568
CAGCAG | CGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAG c.120
Q Q | R A A G S G V F Q L Q L Q E F I N E p.40
. . . . . . g.5628
CGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTC c.180
R G V L A S G R P C E P G C R T F F R V p.60
. . . . . . g.5688
TGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCC c.240
C L K H F Q A V V S P G P C T F G T V S p.80
. . . . . . g.5748
ACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGC c.300
T P V L G T N S F A V R D D S S G G G R p.100
. . . | 03 . . . g.6316
AACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCG | GGTACCTTCTCGCTCATCATCGAA c.360
N P L Q L P F N F T W P | G T F S L I I E p.120
. . . | 04 . . . g.7196
GCTTGGCACGCGCCAGGAGACGACCTGCGGCCAG | AGGCCTTGCCACCAGATGCACTCATC c.420
A W H A P G D D L R P E | A L P P D A L I p.140
. . . . . . g.7256
AGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAA c.480
S K I A I Q G S L A V G Q N W L L D E Q p.160
. . . . . . g.7316
ACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTAT c.540
T S T L T R L R Y S Y R V I C S D N Y Y p.180
. . . . . . g.7376
GGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGC c.600
G D N C S R L C K K R N D H F G H Y V C p.200
. . . . . | 05 g.7840
CAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGC | CT c.660
Q P D G N L S C L P G W T G E Y C Q Q P | p.220
. . . . . | 06 g.7985
ATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCT | C c.720
I C L S G C H E Q N G Y C S K P A E C L | p.240
. . . . . . g.8045
TGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGC c.780
C R P G W Q G R L C N E C I P H N G C R p.260
. . . . . . g.8105
CACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTT c.840
H G T C S T P W Q C T C D E G W G G L F p.280
. | 07 . . . . . g.10265
TGTGACCAAG | ATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGC c.900
C D Q D | L N Y C T H H S P C K N G A T C p.300
. . . . . . g.10325
TCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGAC c.960
S N S G Q R S Y T C T C R P G Y T G V D p.320
. . . . . . g.10385
TGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAG c.1020
C E L E L S E C D S N P C R N G G S C K p.340
| 08 . . . . . . g.10625
| GACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAA c.1080
| D Q E D G Y H C L C P P G Y Y G L H C E p.360
. . . . . . g.10685
CACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGC c.1140
H S T L S C A D S P C F N G G S C R E R p.380
. . . . . . g.10745
AACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAG c.1200
N Q G A N Y A C E C P P N F T G S N C E p.400
. . . . | 09 . . g.11915
AAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACG | GGGGACAGTGCCTGAACCGA c.1260
K K V D R C T S N P C A N G | G Q C L N R p.420
. . . . . . g.11975
GGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCAC c.1320
G P S R M C R C R P G F T G T Y C E L H p.440
. . . . . . g.12035
GTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAAT c.1380
V S D C A R N P C A H G G T C H D L E N p.460
. . . . . . g.12095
GGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCC c.1440
G L M C T C P A G F S G R R C E V R T S p.480
. . . . . . g.12155
ATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCC c.1500
I D A C A S S P C F N R A T C Y T D L S p.500
. . . . . . g.12215
ACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCC c.1560
T D T F V C N C P Y G F V G S R C E F P p.520
. . . . . . g.12275
GTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTG c.1620
V G L P P S F P W V A V S L G V G L A V p.540
. . . . . . g.12335
CTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCG c.1680
L L V L L G M V A V A V R Q L R L R R P p.560
. . . . . . g.12395
GACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATT c.1740
D D G S R E A M N N L S D F Q K D N L I p.580
. . . . . . g.12455
CCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTG c.1800
P A A Q L K N T N Q K K E L E V D C G L p.600
. . . . . . g.12515
GACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGG c.1860
D K S N C G K Q Q N H T L D Y N L A P G p.620
. . . . . . g.12575
CCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAG c.1920
P L G R G T M P G K F P H S D K S L G E p.640
. . | 10 . . . . g.13122
AAGGCGCCACTGCGGTTACACAG | TGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCC c.1980
K A P L R L H S | E K P E C R I S A I C S p.660
. . . . . . g.13182
CCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTC c.2040
P R D S M Y Q S V C L I S E E R N E C V p.680
. | 11 g.13744
ATTGCCACGGAG | GTATAA c.2058
I A T E | V X p.685
. . . . . . g.13804
ggcaggagcctacctggacatccctgctcagccccgcggctggaccttccttctgcattg c.*60
. . . . . . g.13864
tttacattgcatcctggatgggacgtttttcatatgcaacgtgctgctctcaggaggagg c.*120
. . . . . . g.13924
agggaatggcaggaaccggacagactgtgaacttgccaagagatgcaatacccttccaca c.*180
. . . . . . g.13984
cctttgggtgtctgtctggcatcagattggcagctgcaccaaccagaggaacagaagaga c.*240
. . . . . . g.14044
agagagatgccactgggcactgccctgccagtagtggccttcagggggctccttccgggg c.*300
. . . . . . g.14104
ctccggcctgttttccagagagagtggcagtagccccatggggcccggagctgctgtggc c.*360
. . . . . . g.14164
ctccactggcatccgtgtttccaaaagtgcctttggcccaggctccacggcgacagttgg c.*420
. . . . . . g.14224
gcccaaatcagaaaggagagagggggccaatgagggcagggcctcctgtgggctggaaaa c.*480
. . . . . . g.14284
ccactgggtgcgtctcttgctggggtttgccctggaggtgaggtgagtgctcgagggagg c.*540
. . . . . . g.14344
ggagtgctttctgccccatgcctccaactactgtatgcaggcctggctctctggtctagg c.*600
. . . . . . g.14404
ccctttgggcaagaatgtccgtctacccggcttccaccaccctctggccctgggcttctg c.*660
. . . . . . g.14464
taagcagacaggcagagggcctgcccctcccaccagccaagggtgccaggcctaactggg c.*720
. . . . . . g.14524
gcactcagggcagtgtgttggaaattccactgagggggaaatcaggtgctgcggccgcct c.*780
. . . . . . g.14584
gggccctttcctccctcaagcccatctccacaacctcgagcctgggctctggtccactac c.*840
. . . . . . g.14644
tgccccagaccaccctcaaagctggtcttcagaaatcaataatatgagtttttattttgt c.*900
. . . . . . g.14704
ttttttttttttttttgtagtttattttggagtctagtatttcaataatttaagaatcag c.*960
. . . . . . g.14764
aagcactgacctttctacattttataacattattttgtatataatgtgtatttataatat c.*1020
g.14770
gaaaca c.*1026
(downstream sequence)
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