(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000504.3 in the F10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009258.1, covering F10 transcript NM_000504.3.
(upstream sequence)
. . . . . g.5057
gactttgctccagcagcctgtcccagtgaggacagggacacagtactcggccacacc c.-1
. . . . . . g.5117
ATGGGGCGCCCACTGCACCTCGTCCTGCTCAGTGCCTCCCTGGCTGGCCTCCTGCTGCTC c.60
M G R P L H L V L L S A S L A G L L L L p.20
. | 02 . . . . . g.11703
GGGGAAAGTC | TGTTCATCCGCAGGGAGCAGGCCAACAACATCCTGGCGAGGGTCACGAGG c.120
G E S L | F I R R E Q A N N I L A R V T R p.40
. . . . . . g.11763
GCCAATTCCTTTCTTGAAGAGATGAAGAAAGGACACCTCGAAAGAGAGTGCATGGAAGAG c.180
A N S F L E E M K K G H L E R E C M E E p.60
. . . . . | 03 . g.20667
ACCTGCTCATACGAAGAGGCCCGCGAGGTCTTTGAGGACAGCGACAAGACG | AATGAATTC c.240
T C S Y E E A R E V F E D S D K T | N E F p.80
. | 04 . . . . . g.21602
TGGAATAAATACAAAG | ATGGCGACCAGTGTGAGACCAGTCCTTGCCAGAACCAGGGCAAA c.300
W N K Y K D | G D Q C E T S P C Q N Q G K p.100
. . . . . . g.21662
TGTAAAGACGGCCTCGGGGAATACACCTGCACCTGTTTAGAAGGATTCGAAGGCAAAAAC c.360
C K D G L G E Y T C T C L E G F E G K N p.120
. | 05 . . . . . g.23170
TGTGAATTAT | TCACACGGAAGCTCTGCAGCCTGGACAACGGGGACTGTGACCAGTTCTGC c.420
C E L F | T R K L C S L D N G D C D Q F C p.140
. . . . . . g.23230
CACGAGGAACAGAACTCTGTGGTGTGCTCCTGCGCCCGCGGGTACACCCTGGCTGACAAC c.480
H E E Q N S V V C S C A R G Y T L A D N p.160
. . | 06 . . . . g.26090
GGCAAGGCCTGCATTCCCACAG | GGCCCTACCCCTGTGGGAAACAGACCCTGGAACGCAGG c.540
G K A C I P T G | P Y P C G K Q T L E R R p.180
. . . . . . g.26150
AAGAGGTCAGTGGCCCAGGCCACCAGCAGCAGCGGGGAGGCCCCTGACAGCATCACATGG c.600
K R S V A Q A T S S S G E A P D S I T W p.200
. . . . . . g.26210
AAGCCATATGATGCAGCCGACCTGGACCCCACCGAGAACCCCTTCGACCTGCTTGACTTC c.660
K P Y D A A D L D P T E N P F D L L D F p.220
. . . . . . g.26270
AACCAGACGCAGCCTGAGAGGGGCGACAACAACCTCACCAGGATCGTGGGAGGCCAGGAA c.720
N Q T Q P E R G D N N L T R I V G G Q E p.240
. . | 07. . . . g.29613
TGCAAGGACGGGGAGTGTCCCTGGCAG | GCCCTGCTCATCAATGAGGAAAACGAGGGTTTC c.780
C K D G E C P W Q | A L L I N E E N E G F p.260
. . . . . . g.29673
TGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAA c.840
C G G T I L S E F Y I L T A A H C L Y Q p.280
. . | 08 . . . . g.31152
GCCAAGAGATTCAAGGTGAGGGTAG | GGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAG c.900
A K R F K V R V G | D R N T E Q E E G G E p.300
. . . . . . g.31212
GCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGAC c.960
A V H E V E V V I K H N R F T K E T Y D p.320
. . . . . . g.31272
TTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCT c.1020
F D I A V L R L K T P I T F R M N V A P p.340
. . . . . . g.31332
GCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATT c.1080
A C L P E R D W A E S T L M T Q K T G I p.360
. . . . . . g.31392
GTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTG c.1140
V S G F G R T H E K G R Q S T R L K M L p.380
. . . . . . g.31452
GAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAG c.1200
E V P Y V D R N S C K L S S S F I I T Q p.400
. . . . . . g.31512
AACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGG c.1260
N M F C A G Y D T K Q E D A C Q G D S G p.420
. . . . . . g.31572
GGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGA c.1320
G P H V T R F K D T Y F V T G I V S W G p.440
. . . . . . g.31632
GAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAG c.1380
E G C A R K G K Y G I Y T K V T A F L K p.460
. . . . . . g.31692
TGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAG c.1440
W I D R S M K T R G L P K A K S H A P E p.480
. . g.31719
GTCATAACGTCCTCTCCATTAAAGTGA c.1467
V I T S S P L K X p.488
. g.31731
gatcccactcaa c.*12
(downstream sequence)
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