(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000133.3 in the F9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007994.1, covering F9 transcript NM_000133.3.
(upstream sequence)
. . g.5029
accactttcacaatctgctagcaaaggtt c.-1
. . . . . . g.5089
ATGCAGCGCGTGAACATGATCATGGCAGAATCACCAGGCCTCATCACCATCTGCCTTTTA c.60
M Q R V N M I M A E S P G L I T I C L L p.20
. . | 02 . . . g.11306
GGATATCTACTCAGTGCTGAATGTACAG | TTTTTCTTGATCATGAAAACGCCAACAAAATT c.120
G Y L L S A E C T V | F L D H E N A N K I p.40
. . . . . . g.11366
CTGAATCGGCCAAAGAGGTATAATTCAGGTAAATTGGAAGAGTTTGTTCAAGGGAACCTT c.180
L N R P K R Y N S G K L E E F V Q G N L p.60
. . . . . . g.11426
GAGAGAGAATGTATGGAAGAAAAGTGTAGTTTTGAAGAAGCACGAGAAGTTTTTGAAAAC c.240
E R E C M E E K C S F E E A R E V F E N p.80
. | 03 . . | 04. . . g.15363
ACTGAAAGAACA | ACTGAATTTTGGAAGCAGTATGTTG | ATGGAGATCAGTGTGAGTCCAAT c.300
T E R T | T E F W K Q Y V D | G D Q C E S N p.100
. . . . . . g.15423
CCATGTTTAAATGGCGGCAGTTGCAAGGATGACATTAATTCCTATGAATGTTGGTGTCCC c.360
P C L N G G S C K D D I N S Y E C W C P p.120
. . . | 05 . . . g.22656
TTTGGATTTGAAGGAAAGAACTGTGAATTAG | ATGTAACATGTAACATTAAGAATGGCAGA c.420
F G F E G K N C E L D | V T C N I K N G R p.140
. . . . . . g.22716
TGCGAGCAGTTTTGTAAAAATAGTGCTGATAACAAGGTGGTTTGCTCCTGTACTGAGGGA c.480
C E Q F C K N S A D N K V V C S C T E G p.160
. . . . | 06 . . g.25346
TATCGACTTGCAGAAAACCAGAAGTCCTGTGAACCAGCAG | TGCCATTTCCATGTGGAAGA c.540
Y R L A E N Q K S C E P A V | P F P C G R p.180
. . . . . . g.25406
GTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGAC c.600
V S V S Q T S K L T R A E T V F P D V D p.200
. . . . . . g.25466
TATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCA c.660
Y V N S T E A E T I L D N I T Q S T Q S p.220
. . . . . . g.25526
TTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGG c.720
F N D F T R V V G G E D A K P G Q F P W p.240
| 07 . . . . . . g.35062
CAG | GTTGTTTTGAATGGTAAAGTTGATGCATTCTGTGGAGGCTCTATCGTTAATGAAAAA c.780
Q | V V L N G K V D A F C G G S I V N E K p.260
. . . . . | 08 g.35790
TGGATTGTAACTGCTGCCCACTGTGTTGAAACTGGTGTTAAAATTACAGTTGTCGCAG | GT c.840
W I V T A A H C V E T G V K I T V V A G | p.280
. . . . . . g.35850
GAACATAATATTGAGGAGACAGAACATACAGAGCAAAAGCGAAATGTGATTCGAATTATT c.900
E H N I E E T E H T E Q K R N V I R I I p.300
. . . . . . g.35910
CCTCACCACAACTACAATGCAGCTATTAATAAGTACAACCATGACATTGCCCTTCTGGAA c.960
P H H N Y N A A I N K Y N H D I A L L E p.320
. . . . . . g.35970
CTGGACGAACCCTTAGTGCTAAACAGCTACGTTACACCTATTTGCATTGCTGACAAGGAA c.1020
L D E P L V L N S Y V T P I C I A D K E p.340
. . . . . . g.36030
TACACGAACATCTTCCTCAAATTTGGATCTGGCTATGTAAGTGGCTGGGGAAGAGTCTTC c.1080
Y T N I F L K F G S G Y V S G W G R V F p.360
. . . . . . g.36090
CACAAAGGGAGATCAGCTTTAGTTCTTCAGTACCTTAGAGTTCCACTTGTTGACCGAGCC c.1140
H K G R S A L V L Q Y L R V P L V D R A p.380
. . . . . . g.36150
ACATGTCTTCGATCTACAAAGTTCACCATCTATAACAACATGTTCTGTGCTGGCTTCCAT c.1200
T C L R S T K F T I Y N N M F C A G F H p.400
. . . . . . g.36210
GAAGGAGGTAGAGATTCATGTCAAGGAGATAGTGGGGGACCCCATGTTACTGAAGTGGAA c.1260
E G G R D S C Q G D S G G P H V T E V E p.420
. . . . . . g.36270
GGGACCAGTTTCTTAACTGGAATTATTAGCTGGGGTGAAGAGTGTGCAATGAAAGGCAAA c.1320
G T S F L T G I I S W G E E C A M K G K p.440
. . . . . . g.36330
TATGGAATATATACCAAGGTATCCCGGTATGTCAACTGGATTAAGGAAAAAACAAAGCTC c.1380
Y G I Y T K V S R Y V N W I K E K T K L p.460
g.36336
ACTTAA c.1386
T X p.461
. . . . . . g.36396
tgaaagatggatttccaaggttaattcattggaattgaaaattaacagggcctctcacta c.*60
. . . . . . g.36456
actaatcactttcccatcttttgttagatttgaatatatacattctatgatcattgcttt c.*120
. . . . . . g.36516
ttctctttacaggggagaatttcatattttacctgagcaaattgattagaaaatggaacc c.*180
. . . . . . g.36576
actagaggaatataatgtgttaggaaattacagtcatttctaagggcccagcccttgaca c.*240
. . . . . . g.36636
aaattgtgaagttaaattctccactctgtccatcagatactatggttctccactatggca c.*300
. . . . . . g.36696
actaactcactcaattttccctccttagcagcattccatcttcccgatcttctttgcttc c.*360
. . . . . . g.36756
tccaaccaaaacatcaatgtttattagttctgtatacagtacaggatctttggtctactc c.*420
. . . . . . g.36816
tatcacaaggccagtaccacactcatgaagaaagaacacaggagtagctgagaggctaaa c.*480
. . . . . . g.36876
actcatcaaaaacactactccttttcctctaccctattcctcaatcttttaccttttcca c.*540
. . . . . . g.36936
aatcccaatccccaaatcagtttttctctttcttactccctctctcccttttaccctcca c.*600
. . . . . . g.36996
tggtcgttaaaggagagatggggagcatcattctgttatacttctgtacacagttataca c.*660
. . . . . . g.37056
tgtctatcaaacccagacttgcttccgtagtggagacttgcttttcagaacatagggatg c.*720
. . . . . . g.37116
aagtaaggtgcctgaaaagtttgggggaaaagtttctttcagagagttaagttattttat c.*780
. . . . . . g.37176
atatataatatatatataaaatatataatatacaatataaatatatagtgtgtgtgtatg c.*840
. . . . . . g.37236
cgtgtgtgtagacacacacgcatacacacatataatggaagcaataagccattctaagag c.*900
. . . . . . g.37296
cttgtatggttatggaggtctgactaggcatgatttcacgaaggcaagattggcatatca c.*960
. . . . . . g.37356
ttgtaactaaaaaagctgacattgacccagacatattgtactctttctaaaaataataat c.*1020
. . . . . . g.37416
aataatgctaacagaaagaagagaaccgttcgtttgcaatctacagctagtagagacttt c.*1080
. . . . . . g.37476
gaggaagaattcaacagtgtgtcttcagcagtgttcagagccaagcaagaagttgaagtt c.*1140
. . . . . . g.37536
gcctagaccagaggacataagtatcatgtctcctttaactagcataccccgaagtggaga c.*1200
. . . . . . g.37596
agggtgcagcaggctcaaaggcataagtcattccaatcagccaactaagttgtccttttc c.*1260
. . . . . . g.37656
tggtttcgtgttcaccatggaacattttgattatagttaatccttctatcttgaatcttc c.*1320
. . . . . . g.37716
tagagagttgctgaccaactgacgtatgtttccctttgtgaattaataaactggtgttct c.*1380
g.37723
ggttcat c.*1387
(downstream sequence)
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