(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000131.4 in the F7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009262.1, covering F7 transcript NM_000131.4.
(upstream sequence)
. . . . . g.5051
gtcagtcccatggggaatgtcaacaggcaggggcagcactgcagagatttcatc c.-1
. . . . . . g.5111
ATGGTCTCCCAGGCCCTCAGGCTCCTCTGCCTTCTGCTTGGGCTTCAGGGCTGCCTGGCT c.60
M V S Q A L R L L C L L L G L Q G C L A p.20
| 02 . . . . . . g.6110
GCAG | GCGGGGTCGCTAAGGCCTCAGGAGGAGAAACACGGGACATGCCGTGGAAGCCGGGG c.120
A G | G V A K A S G G E T R D M P W K P G p.40
. | 03 . . . . . g.9949
CCTCACAGAG | TCTTCGTAACCCAGGAGGAAGCCCACGGCGTCCTGCACCGGCGCCGGCGC c.180
P H R V | F V T Q E E A H G V L H R R R R p.60
. . . . . . g.10009
GCCAACGCGTTCCTGGAGGAGCTGCGGCCGGGCTCCCTGGAGAGGGAGTGCAAGGAGGAG c.240
A N A F L E E L R P G S L E R E C K E E p.80
. . . . . | 04 . g.12970
CAGTGCTCCTTCGAGGAGGCCCGGGAGATCTTCAAGGACGCGGAGAGGACG | AAGCTGTTC c.300
Q C S F E E A R E I F K D A E R T | K L F p.100
. | 05 . . . . . g.13100
TGGATTTCTTACAGTG | ATGGGGACCAGTGTGCCTCAAGTCCATGCCAGAATGGGGGCTCC c.360
W I S Y S D | G D Q C A S S P C Q N G G S p.120
. . . . . . g.13160
TGCAAGGACCAGCTCCAGTCCTATATCTGCTTCTGCCTCCCTGCCTTCGAGGGCCGGAAC c.420
C K D Q L Q S Y I C F C L P A F E G R N p.140
. | 06 . . . . . g.14919
TGTGAGACGC | ACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAG c.480
C E T H | K D D Q L I C V N E N G G C E Q p.160
. . . . . . g.14979
TACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTG c.540
Y C S D H T G T K R S C R C H E G Y S L p.180
. . . | 07 . . . g.16004
CTGGCAGACGGGGTGTCCTGCACACCCACAG | TTGAATATCCATGTGGAAAAATACCTATT c.600
L A D G V S C T P T V | E Y P C G K I P I p.200
. . . . . . g.16064
CTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCC c.660
L E K R N A S K P Q G R I V G G K V C P p.220
. . | 08 . . . . g.16721
AAAGGGGAGTGTCCATGGCAG | GTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGG c.720
K G E C P W Q | V L L L V N G A Q L C G G p.240
. . . . . . g.16781
ACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAAC c.780
T L I N T I W V V S A A H C F D K I K N p.260
. . | 09 . . . . g.17657
TGGAGGAACCTGATCGCGGTGCTGG | GCGAGCACGACCTCAGCGAGCACGACGGGGATGAG c.840
W R N L I A V L G | E H D L S E H D G D E p.280
. . . . . . g.17717
CAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAAC c.900
Q S R R V A Q V I I P S T Y V P G T T N p.300
. . . . . . g.17777
CACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCC c.960
H D I A L L R L H Q P V V L T D H V V P p.320
. . . . . . g.17837
CTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTG c.1020
L C L P E R T F S E R T L A F V R F S L p.340
. . . . . . g.17897
GTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTC c.1080
V S G W G Q L L D R G A T A L E L M V L p.360
. . . . . . g.17957
AACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCC c.1140
N V P R L M T Q D C L Q Q S R K V G D S p.380
. . . . . . g.18017
CCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGC c.1200
P N I T E Y M F C A G Y S D G S K D S C p.400
. . . . . . g.18077
AAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGC c.1260
K G D S G G P H A T H Y R G T W Y L T G p.420
. . . . . . g.18137
ATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTC c.1320
I V S W G Q G C A T V G H F G V Y T R V p.440
. . . . . . g.18197
TCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTC c.1380
S Q Y I E W L Q K L M R S E P R P G V L p.460
. . g.18218
CTGCGAGCCCCATTTCCCTAG c.1401
L R A P F P X p.466
. . . . . . g.18278
cccagcagccctggcctgtggagagaaagccaaggctgcgtcgaactgtcctggcaccaa c.*60
. . . . . . g.18338
atcccatatattcttctgcagttaatggggtagaggagggcatgggagggagggagaggt c.*120
. . . . . . g.18398
ggggagggagacagagacagaaacagagagagacagagacagagagagactgagggagag c.*180
. . . . . . g.18458
actctgaggacatggagagagactcaaagagactccaagattcaaagagactaatagaga c.*240
. . . . . . g.18518
cacagagatggaatagaaaagatgagaggcagaggcagacaggcgctggacagaggggca c.*300
. . . . . . g.18578
ggggagtgccaaggttgtcctggaggcagacagcccagctgagcctccttacctcccttc c.*360
. . . . . . g.18638
agccaagcccacctgcacgtgatctgctggcctcaggctgctgctctgccttcattgctg c.*420
. . . . . . g.18698
gagacagtagaggcatgaacacacatggatgcacacacacacacgccaatgcacacacac c.*480
. . . . . . g.18758
agagatatgcacacacacggatgcacacacagatggtcacacagagatacgcaaacacac c.*540
. . . . . . g.18818
cgatgcacacgcacatagagatatgcacacacagatgcacacacagatatacacatggat c.*600
. . . . . . g.18878
gcacgcacatgccaatgcacgcacacatcagtgcacacggatgcacagagatatgcacac c.*660
. . . . . . g.18938
accgatgtgcgcacacacagatatgcacacacatggatgagcacacacacaccaatgcgc c.*720
. . . . . . g.18998
acacacaccgatgtacacacacagatgcacacacagatgcacacacaccgatgctgactc c.*780
. . . . . . g.19058
catgtgtgctgtcctctgaaggcggttgtttagctctcacttttctggttcttatccatt c.*840
. . . . . . g.19118
atcatcttcacttcagacaattcagaagcatcaccatgcatggtggcgaatgcccccaaa c.*900
. . . . . . g.19178
ctctcccccaaatgtatttctcccttcgctgggtgccgggctgcacagactattccccac c.*960
. . . . . . g.19238
ctgcttcccagcttcacaataaacggctgcgtctcctccgcacacctgtggtgcctgcca c.*1020
. . . . . . g.19298
cccactgggttgcccatgattcatttttggagcccccggtgctcatcctctgagatgctc c.*1080
. . . . . . g.19358
ttttctttcacaattttcaacatcactgaaatgaaccctcacatggaagctattttttaa c.*1140
. . . . . . g.19418
aaacaaaagctgtttgatagatgtttgaggctgtagctcccaggatcctgtggaattgga c.*1200
. . . . . . g.19478
tgttctctccctgccacagcccttgtcaatgatatttcacagagaccctgggagcacctg c.*1260
. . . . . . g.19538
ctcaagagtcagggacacacgcatcactaaatgcaagttcccaggccctggctgcagtgg c.*1320
. . . . . . g.19598
gaggacctggcaagctgcactcttgctgagtccccagggtggtggaagaagaatgagaaa c.*1380
. . . . . . g.19658
cacatgaacagagaaatggggaggtgacaaacagtgcccccactcagactccggcaagca c.*1440
. . . . . . g.19718
cggctcagagagtggactcgatgccatccctgcagggccgtcctgggcaccactggcact c.*1500
. . . . . . g.19778
cacagcagcaaggtgggcaccattggcactcacagcagcaaggcaggcaccagcaaccca c.*1560
. . . . . . g.19838
cctcgggggcactcaggcatcatctacttcagagcagacagggtctatgaactacagccg c.*1620
. . . . . g.19891
tgggctgcttccaaggcaccctgctcttgtaaataaagttttatgggaacaca c.*1673
(downstream sequence)
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