(used for variant description)
(last modified March 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004333.4 in the BRAF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007873.2, covering BRAF transcript NM_004333.4.
(upstream sequence)
g.5001
c c.-61
. . . . . . g.5061
gcctcccttccccctccccgcccgacagcggccgctcgggccccggctctcggttataag c.-1
. . . . . . g.5121
ATGGCGGCGCTGAGCGGTGGCGGTGGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAAC c.60
M A A L S G G G G G G A E P G Q A L F N p.20
. . . . . . g.5181
GGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGAC c.120
G D M E P E A G A G A G A A A S S A A D p.40
. | 02 . . . . g.79594
CCTGCCATTCCGGAGGAG | GTGTGGAATATCAAACAAATGATTAAGTTGACACAGGAACAT c.180
P A I P E E | V W N I K Q M I K L T Q E H p.60
. . . . . . g.79654
ATAGAGGCCCTATTGGACAAATTTGGTGGGGAGCATAATCCACCATCAATATATCTGGAG c.240
I E A L L D K F G G E H N P P S I Y L E p.80
| 03 . . . . . . g.94952
| GCCTATGAAGAATACACCAGCAAGCTAGATGCACTCCAACAAAGAGAACAACAGTTATTG c.300
| A Y E E Y T S K L D A L Q Q R E Q Q L L p.100
. . . . . . g.95012
GAATCTCTGGGGAACGGAACTGATTTTTCTGTTTCTAGCTCTGCATCAATGGATACCGTT c.360
E S L G N G T D F S V S S S A S M D T V p.120
. . . . . . g.95072
ACATCTTCTTCCTCTTCTAGCCTTTCAGTGCTACCTTCATCTCTTTCAGTTTTTCAAAAT c.420
T S S S S S S L S V L P S S L S V F Q N p.140
. . . . . . g.95132
CCCACAGATGTGGCACGGAGCAACCCCAAGTCACCACAAAAACCTATCGTTAGAGTCTTC c.480
P T D V A R S N P K S P Q K P I V R V F p.160
. . | 04 . . . . g.120805
CTGCCCAACAAACAGAGGACAGTG | GTACCTGCAAGGTGTGGAGTTACAGTCCGAGACAGT c.540
L P N K Q R T V | V P A R C G V T V R D S p.180
. . . . . . g.120865
CTAAAGAAAGCACTGATGATGAGAGGTCTAATCCCAGAGTGCTGTGCTGTTTACAGAATT c.600
L K K A L M M R G L I P E C C A V Y R I p.200
| 05 . . . . . g.121754
CAGGATGG | AGAGAAGAAACCAATTGGTTGGGACACTGATATTTCCTGGCTTACTGGAGAA c.660
Q D G | E K K P I G W D T D I S W L T G E p.220
. . . . . | 06 . g.128213
GAATTGCATGTGGAAGTGTTGGAGAATGTTCCACTTACAACACACAACTTT | GTACGAAAA c.720
E L H V E V L E N V P L T T H N F | V R K p.240
. . . . . . g.128273
ACGTTTTTCACCTTAGCATTTTGTGACTTTTGTCGAAAGCTGCTTTTCCAGGGTTTCCGC c.780
T F F T L A F C D F C R K L L F Q G F R p.260
. . . . . . g.128333
TGTCAAACATGTGGTTATAAATTTCACCAGCGTTGTAGTACAGAAGTTCCACTGATGTGT c.840
C Q T C G Y K F H Q R C S T E V P L M C p.280
. . | 07 . . . . g.129323
GTTAATTATGACCAACTTGA | TTTGCTGTTTGTCTCCAAGTTCTTTGAACACCACCCAATA c.900
V N Y D Q L D | L L F V S K F F E H H P I p.300
. . . . . . g.129383
CCACAGGAAGAGGCGTCCTTAGCAGAGACTGCCCTAACATCTGGATCATCCCCTTCCGCA c.960
P Q E E A S L A E T A L T S G S S P S A p.320
. . | 08 . . . . g.135337
CCCGCCTCGGACTCTATTGG | GCCCCAAATTCTCACCAGTCCGTCTCCTTCAAAATCCATT c.1020
P A S D S I G | P Q I L T S P S P S K S I p.340
. . . . . . g.135397
CCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGA c.1080
P I P Q P F R P A D E D H R N Q F G Q R p.360
. . . . . . g.135457
GACCGATCCTCATCAGCTCCCAATGTGCATATAAACACAATAGAACCTGTCAATATTGAT c.1140
D R S S S A P N V H I N T I E P V N I D p.380
| 09 . . . | 10. . . g.146630
| GACTTGATTAGAGACCAAGGATTTCGTGGTGATGGAG | GATCAACCACAGGTTTGTCTGCT c.1200
| D L I R D Q G F R G D G G | S T T G L S A p.400
. . . . . . g.146690
ACCCCCCCTGCCTCATTACCTGGCTCACTAACTAACGTGAAAGCCTTACAGAAATCTCCA c.1260
T P P A S L P G S L T N V K A L Q K S P p.420
. . . . . | 11 . g.148077
GGACCTCAGCGAGAAAGGAAGTCATCTTCATCCTCAGAAGACAGGAATCGAATG | AAAACA c.1320
G P Q R E R K S S S S S E D R N R M | K T p.440
. . . . . . g.148137
CTTGGTAGACGGGACTCGAGTGATGATTGGGAGATTCCTGATGGGCAGATTACAGTGGGA c.1380
L G R R D S S D D W E I P D G Q I T V G p.460
. . . . . | 12 . g.151697
CAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATG | GTGATGTG c.1440
Q R I G S G S F G T V Y K G K W H G | D V p.480
. . . . . . g.151757
GCAGTGAAAATGTTGAATGTGACAGCACCTACACCTCAGCAGTTACAAGCCTTCAAAAAT c.1500
A V K M L N V T A P T P Q Q L Q A F K N p.500
. | 13. . . . . g.152719
GAAGTAGGAGTACTCAG | GAAAACACGACATGTGAATATCCTACTCTTCATGGGCTATTCC c.1560
E V G V L R | K T R H V N I L L F M G Y S p.520
. . . . . . g.152779
ACAAAGCCACAACTGGCTATTGTTACCCAGTGGTGTGAGGGCTCCAGCTTGTATCACCAT c.1620
T K P Q L A I V T Q W C E G S S L Y H H p.540
. . . . . . g.152839
CTCCATATCATTGAGACCAAATTTGAGATGATCAAACTTATAGATATTGCACGACAGACT c.1680
L H I I E T K F E M I K L I D I A R Q T p.560
. | 14 . . . . . g.175577
GCACAGGGCATGGA | TTACTTACACGCCAAGTCAATCATCCACAGAGACCTCAAGAGTAAT c.1740
A Q G M D | Y L H A K S I I H R D L K S N p.580
| 15 . . . . . . g.176430
A | ATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTG c.1800
N | I F L H E D L T V K I G D F G L A T V p.600
. . . . . . g.176490
AAATCTCGATGGAGTGGGTCCCATCAGTTTGAACAGTTGTCTGGATCCATTTTGTGGATG c.1860
K S R W S G S H Q F E Q L S G S I L W M p.620
| 16 . . . . . . g.180406
| GCACCAGAAGTCATCAGAATGCAAGATAAAAATCCATACAGCTTTCAGTCAGATGTATAT c.1920
| A P E V I R M Q D K N P Y S F Q S D V Y p.640
. . . . . . g.180466
GCATTTGGAATTGTTCTGTATGAATTGATGACTGGACAGTTACCTTATTCAAACATCAAC c.1980
A F G I V L Y E L M T G Q L P Y S N I N p.660
. | 17 . . . . . g.189866
AACAGGGACCAG | ATAATTTTTATGGTGGGACGAGGATACCTGTCTCCAGATCTCAGTAAG c.2040
N R D Q | I I F M V G R G Y L S P D L S K p.680
. . . . . . g.189926
GTACGGAGTAACTGTCCAAAAGCCATGAAGAGATTAATGGCAGAGTGCCTCAAAAAGAAA c.2100
V R S N C P K A M K R L M A E C L K K K p.700
. . | 18. . . . g.195027
AGAGATGAGAGACCACTCTTTCCCCAA | ATTCTCGCCTCTATTGAGCTGCTGGCCCGCTCA c.2160
R D E R P L F P Q | I L A S I E L L A R S p.720
. . . . . . g.195087
TTGCCAAAAATTCACCGCAGTGCATCAGAACCCTCCTTGAATCGGGCTGGTTTCCAAACA c.2220
L P K I H R S A S E P S L N R A G F Q T p.740
. . . . . . g.195147
GAGGATTTTAGTCTATATGCTTGTGCTTCTCCAAAAACACCCATCCAGGCAGGGGGATAT c.2280
E D F S L Y A C A S P K T P I Q A G G Y p.760
. . g.195168
GGTGCGTTTCCTGTCCACTGA c.2301
G A F P V H X p.766
. . . . . . g.195228
aacaaatgagtgagagagttcaggagagtagcaacaaaaggaaaataaatgaacatatgt c.*60
. . . . . . g.195288
ttgcttatatgttaaattgaataaaatactctctttttttttaaggtgaaccaaagaaca c.*120
. . . . . . g.195348
cttgtgtggttaaagactagatataatttttccccaaactaaaatttatacttaacattg c.*180
. . . . . . g.195408
gatttttaacatccaagggttaaaatacatagacattgctaaaaattggcagagcctctt c.*240
. . . . . . g.195468
ctagaggctttactttctgttccgggtttgtatcattcacttggttattttaagtagtaa c.*300
. . . . . . g.195528
acttcagtttctcatgcaacttttgttgccagctatcacatgtccactagggactccaga c.*360
. . . . . . g.195588
agaagaccctacctatgcctgtgtttgcaggtgagaagttggcagtcggttagcctgggt c.*420
. . . . . . g.195648
tagataaggcaaactgaacagatctaatttaggaagtcagtagaatttaataattctatt c.*480
. . . . . . g.195708
attattcttaataatttttctataactatttctttttataacaatttggaaaatgtggat c.*540
. . . . g.195753
gtcttttatttccttgaagcaataaactaagtttctttttataaa c.*585
(downstream sequence)
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