(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000128.3 in the F11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008051.1, covering F11 transcript NM_000128.3.
(upstream sequence)
. . . g.5033
aggcacacaggcaaaatcaagttctacatctgt c.-301
. . . . . . g.5093
ccctgtgtatgtcacttgtttgaatacgaaataaaattaaaaaaataaattcagtgtatt c.-241
. . . . . . g.5153
gagaaagcaagcaattctctcaaggtatatttctgacatactaagattttaacgactttc c.-181
. . . . . . g.5213
acaaatatgctgtactgagagagaatgttacataacattgagaactagtacaagtaaata c.-121
. . . . . . g.5273
ttaaagtgaagtgaccatttcctacacaagctcattcagaggaggatgaagaccattttg c.-61
. . . . . . | 02 g.6173
gaggaagaaaagcacccttattaagaattgcagcaagtaagccaacaaggtcttttcag | g c.-1
. . . . . | 03 . g.10650
ATGATTTTCTTATATCAAGTGGTACATTTCATTTTATTTACTTCAGTTTCTGGTG | AATGT c.60
M I F L Y Q V V H F I L F T S V S G E | C p.20
. . . . . . g.10710
GTGACTCAGTTGTTGAAGGACACCTGCTTTGAAGGAGGGGACATTACTACGGTCTTCACA c.120
V T Q L L K D T C F E G G D I T T V F T p.40
. . . . . . g.10770
CCAAGCGCCAAGTACTGCCAGGTAGTCTGCACTTACCACCCAAGATGTTTACTCTTCACT c.180
P S A K Y C Q V V C T Y H P R C L L F T p.60
. . . | 04 . . g.12129
TTCACGGCGGAATCACCATCTGAGGATCCCACCCGATG | GTTTACTTGTGTCCTGAAAGAC c.240
F T A E S P S E D P T R W | F T C V L K D p.80
. . . . . . g.12189
AGTGTTACAGAAACACTGCCAAGAGTGAATAGGACAGCAGCGATTTCTGGGTATTCTTTC c.300
S V T E T L P R V N R T A A I S G Y S F p.100
. . | 05 . . . . g.13187
AAGCAATGCTCACACCAAATAAGCG | CTTGCAACAAAGACATTTATGTGGACCTAGACATG c.360
K Q C S H Q I S A | C N K D I Y V D L D M p.120
. . . . . . g.13247
AAGGGCATAAACTATAACAGCTCAGTTGCCAAGAGTGCTCAAGAATGCCAAGAAAGATGC c.420
K G I N Y N S S V A K S A Q E C Q E R C p.140
. . . . . . g.13307
ACGGATGACGTCCACTGCCACTTTTTCACGTACGCCACAAGGCAGTTTCCCAGCCTGGAG c.480
T D D V H C H F F T Y A T R Q F P S L E p.160
| 06 . . . . . . g.14878
CATCG | TAACATTTGTCTACTGAAGCACACCCAAACAGGGACACCAACCAGAATAACGAAG c.540
H R | N I C L L K H T Q T G T P T R I T K p.180
. . . . . | 07 . g.15272
CTCGATAAAGTGGTGTCTGGATTTTCACTGAAATCCTGTGCACTTTCTAATCTGG | CTTGT c.600
L D K V V S G F S L K S C A L S N L A | C p.200
. . . . . . g.15332
ATTAGGGACATTTTCCCTAATACGGTGTTTGCAGACAGCAACATCGACAGTGTCATGGCT c.660
I R D I F P N T V F A D S N I D S V M A p.220
. . . . . . g.15392
CCCGATGCTTTTGTCTGTGGCCGAATCTGCACTCATCATCCCGGTTGCTTGTTTTTTACC c.720
P D A F V C G R I C T H H P G C L F F T p.240
. . . | 08 . . . g.19073
TTCTTTTCCCAGGAATGGCCCAAAGAATCTCAAAG | AAATCTTTGTCTCCTTAAAACATCT c.780
F F S Q E W P K E S Q R | N L C L L K T S p.260
. . . . . . g.19133
GAGAGTGGATTGCCCAGTACACGCATTAAAAAGAGCAAAGCTCTTTCTGGTTTCAGTCTA c.840
E S G L P S T R I K K S K A L S G F S L p.280
. . | 09 . . . . g.19294
CAAAGCTGCAGGCACAGCATCCCAG | TGTTCTGCCATTCTTCATTTTACCATGACACTGAT c.900
Q S C R H S I P V | F C H S S F Y H D T D p.300
. . . . . . g.19354
TTCTTGGGAGAAGAACTGGATATTGTTGCTGCAAAAAGTCACGAGGCCTGCCAGAAACTG c.960
F L G E E L D I V A A K S H E A C Q K L p.320
. . . . . . g.19414
TGCACCAATGCCGTCCGCTGCCAGTTTTTTACCTATACCCCAGCCCAAGCATCCTGCAAC c.1020
C T N A V R C Q F F T Y T P A Q A S C N p.340
| 10 . . . . . g.19562
GAAGGGAA | GGGCAAGTGTTACTTAAAGCTTTCTTCAAACGGATCTCCAACTAAAATACTT c.1080
E G K | G K C Y L K L S S N G S P T K I L p.360
. . . . . | 11 . g.23133
CACGGGAGAGGAGGCATCTCTGGATACACATTAAGGTTGTGTAAAATGGATAATG | AGTGT c.1140
H G R G G I S G Y T L R L C K M D N E | C p.380
. . . . . . g.23193
ACCACCAAAATCAAGCCCAGGATCGTTGGAGGAACTGCGTCTGTTCGTGGTGAGTGGCCG c.1200
T T K I K P R I V G G T A S V R G E W P p.400
. . . . . . g.23253
TGGCAGGTGACCCTGCACACAACCTCACCCACTCAGAGACACCTGTGTGGAGGCTCCATC c.1260
W Q V T L H T T S P T Q R H L C G G S I p.420
. . . . | 12 . . g.24690
ATTGGAAACCAGTGGATATTAACAGCCGCTCACTGTTTCTATGG | GGTAGAGTCACCTAAG c.1320
I G N Q W I L T A A H C F Y G | V E S P K p.440
. . . . . . g.24750
ATTTTGCGTGTCTACAGTGGCATTTTAAATCAATCTGAAATAAAAGAGGACACATCTTTC c.1380
I L R V Y S G I L N Q S E I K E D T S F p.460
. . . . . . g.24810
TTTGGGGTTCAAGAAATAATAATCCATGATCAGTATAAAATGGCAGAAAGCGGGTATGAT c.1440
F G V Q E I I I H D Q Y K M A E S G Y D p.480
. . . . | 13 . . g.25471
ATTGCCTTGTTGAAACTGGAAACCACAGTGAATTACACAG | ATTCTCAACGACCCATATGC c.1500
I A L L K L E T T V N Y T D | S Q R P I C p.500
. . . . . . g.25531
CTGCCTTCCAAAGGAGATAGAAATGTAATATACACTGATTGCTGGGTGACTGGATGGGGG c.1560
L P S K G D R N V I Y T D C W V T G W G p.520
. | 14 . . . . . g.26764
TACAGAAAACTAAGAG | ACAAAATACAAAATACTCTCCAGAAAGCCAAGATACCCTTAGTG c.1620
Y R K L R D | K I Q N T L Q K A K I P L V p.540
. . . . . . g.26824
ACCAACGAAGAGTGCCAGAAGAGATACAGAGGACATAAAATAACCCATAAGATGATCTGT c.1680
T N E E C Q K R Y R G H K I T H K M I C p.560
. . . | 15 . . . g.27513
GCCGGCTACAGGGAAGGAGGGAAGGACGCTTGCAAG | GGAGATTCGGGAGGCCCTCTGTCC c.1740
A G Y R E G G K D A C K | G D S G G P L S p.580
. . . . . . g.27573
TGCAAACACAATGAGGTCTGGCATCTGGTAGGCATCACGAGCTGGGGCGAAGGCTGTGCT c.1800
C K H N E V W H L V G I T S W G E G C A p.600
. . . . . . g.27633
CAAAGGGAGCGGCCAGGTGTTTACACCAACGTGGTCGAGTACGTGGACTGGATTCTGGAG c.1860
Q R E R P G V Y T N V V E Y V D W I L E p.620
. g.27651
AAAACTCAAGCAGTGTGA c.1878
K T Q A V X p.625
. . . . . . g.27711
atgggttcccaggggccattggagtccctgaaggacccaggatttgctgggagagggtgt c.*60
. . . . . . g.27771
tgagttcactgtgccagcatgcttcctccacagtaacacgctgaaggggcttggtgtttg c.*120
. . . . . . g.27831
taagaaaatgctagaagaaaacaaactgtcacaagttgttatgtccaaaactcccgttct c.*180
. . . . . . g.27891
atgatcgttgtagtttgtttgagcattcagtctctttgtttttgatcacgcttctatgga c.*240
. . . . . . g.27951
gtccaagaattaccataaggcaatatttctgaagattactatataggcagatatagcaga c.*300
. . . . . . g.28011
aaataaccaagtagtggcagtggggatcaggcagaagaactggtaaaagaagccaccata c.*360
. . . . . . g.28071
aatagatttgttcgatgaaagatgaaaactggaagaaaggagaacaaagacagtcttcac c.*420
. . . . . . g.28131
cattttgcaggaatctacactctgcctatgtgaacacatttcttttgtaaagaaagaaat c.*480
. . . . . . g.28191
tgattgcatttaatggcagattttcagaatagtcaggaattcttgtcatttccattttaa c.*540
. . . . . . g.28251
aatatatattaaaaaaaatcagttcgagtagacacgagctaagagtgaatgtgaagataa c.*600
. . . . . . g.28311
cagaatttctgtgtggaagaggattacaagcagcaatttacctggaagtgataccttagg c.*660
. . . . . . g.28371
ggcaatcttgaagatacactttcctgaaaaatgatttgtgatggattgtatatttattta c.*720
. . . . . . g.28431
aaatatcttgggaggggaggctgatggagatagggagcatgctcaaacctccctaagaca c.*780
. . . . . . g.28491
agctgctgctgtgactatgggctcccaaagagctagatcgtatatttatttgacaaaaat c.*840
. . . . . . g.28551
caccatagactgcatccatactacagagaaaaaacaattagggcgcaaatggatagttac c.*900
. . . . . . g.28611
agtaaagtcttcagcaagcagctgcctgtattctaagcactgggattttctgtttcgtgc c.*960
. . . . . . g.28671
aaatatttatctcattattgttgtgatctagttcaataacctagaatttgaattgtcacc c.*1020
. . . . g.28718
acatagctttcaatctgtgccaacaactatacaattcatcaagtgtg c.*1067
(downstream sequence)
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