(used for variant description)
(last modified June 15, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001271043.1 in the NFIX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032925.1, covering NFIX transcript NM_001271043.1.
(upstream sequence)
. . . . . g.33864
agacggacactgtgccggggcgagctgacaggagttcacggctgcgatagaac c.-1
. . . . . | 02 . g.34260
ATGGAGATGTCATGGGCGCGACAGAGCCTGGCGGGGATACCAGCAGCGTGT | GATGAGTTC c.60
M E M S W A R Q S L A G I P A A C | D E F p.20
. . . . . . g.34320
CACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAAC c.120
H P F I E A L L P H V R A F S Y T W F N p.40
. . . . . . g.34380
CTGCAGGCGCGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAG c.180
L Q A R K R K Y F K K H E K R M S K D E p.60
. . . . . . g.34440
GAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAGTGGGCA c.240
E R A V K D E L L G E K P E I K Q K W A p.80
. . . . . . g.34500
TCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTG c.300
S R L L A K L R K D I R P E F R E D F V p.100
. . . . . . g.34560
CTGACCATCACGGGCAAGAAGCCCCCCTGCTGCGTGCTCTCCAACCCCGACCAGAAGGGC c.360
L T I T G K K P P C C V L S N P D Q K G p.120
. . . . . . g.34620
AAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACCTGGTC c.420
K I R R I D C L R Q A D K V W R L D L V p.140
. . . . . . g.34680
ATGGTGATTTTGTTTAAGGGGATCCCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAG c.480
M V I L F K G I P L E S T D G E R L Y K p.160
. . . . . . g.34740
TCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATC c.540
S P Q C S N P G L C V Q P H H I G V T I p.180
. . . . | 03 . . g.82294
AAAGAACTGGATCTTTATCTGGCTTACTTTGTCCACACTCCGG | AATCCGGACAATCAGAT c.600
K E L D L Y L A Y F V H T P E | S G Q S D p.200
. . . . | 04 . . g.82666
AGTTCAAACCAGCAAGGAGATGCGGACATCAAACCACTGCCCAACG | GGCACTTAAGTTTC c.660
S S N Q Q G D A D I K P L P N G | H L S F p.220
. . . . . . g.82726
CAGGACTGTTTTGTGACTTCCGGGGTCTGGAATGTGACGGAGCTGGTGAGAGTATCACAG c.720
Q D C F V T S G V W N V T E L V R V S Q p.240
| 05 . . . . . . g.83195
A | CTCCTGTTGCAACAGCATCAGGGCCCAACTTCTCCCTGGCGGACCTGGAGAGTCCCAGC c.780
T | P V A T A S G P N F S L A D L E S P S p.260
. . . . . . g.83255
TACTACAACATCAACCAGGTGACCCTGGGGCGGCGGTCCATCACCTCCCCTCCTTCCACC c.840
Y Y N I N Q V T L G R R S I T S P P S T p.280
| 06 . . . . . . g.84823
AG | CACCACCAAGCGCCCCAAGTCCATCGATGACAGTGAGATGGAGAGCCCTGTTGATGAC c.900
S | T T K R P K S I D D S E M E S P V D D p.300
. . . . . . g.84883
GTGTTCTATCCCGGGACAGGCCGTTCCCCAGCAGCTGGCAGCAGCCAGTCCAGCGGGTGG c.960
V F Y P G T G R S P A A G S S Q S S G W p.320
. | 07 . . . . g.87884
CCCAACGATGTGGATGCAG | GCCCGGCTTCTCTAAAGAAGTCAGGAAAGCTGGACTTCTGC c.1020
P N D V D A G | P A S L K K S G K L D F C p.340
. . . . . . g.87944
AGTGCCCTCTCCTCTCAGGGCAGCTCCCCGCGCATGGCTTTCACCCACCACCCGCTGCCT c.1080
S A L S S Q G S S P R M A F T H H P L P p.360
. . | 08 . . . . g.90948
GTGCTTGCTGGAGTCAGACCAG | GGAGCCCCCGGGCCACAGCATCAGCCCTGCACTTCCCC c.1140
V L A G V R P G | S P R A T A S A L H F P p.380
. . . . . . g.91008
TCCACGTCCATCATCCAGCAGTCGAGCCCGTATTTCACGCACCCGACCATCCGCTACCAC c.1200
S T S I I Q Q S S P Y F T H P T I R Y H p.400
. . . . . . g.91068
CACCACCACGGGCAGGACTCACTGAAGGAGTTTGTGCAGTTTGTGTGCTCGGATGGCTCG c.1260
H H H G Q D S L K E F V Q F V C S D G S p.420
. | 09 . . . . g.97261
GGCCAGGCCACCGGACAG | CCCAACGGTAGCGGCCAGGGCAAAGTCCCGGGGTCATTTTTG c.1320
G Q A T G Q | P N G S G Q G K V P G S F L p.440
. . . . . . g.97321
CTACCGCCGCCGCCTCCAGTGGCCAGACCTGTGCCCCTTCCTATGCCTGATTCCAAATCC c.1380
L P P P P P V A R P V P L P M P D S K S p.460
. . . . | 10 . . g.99543
ACCAGCACTGCCCCAGACGGCGCCGCCTTGACTCCTCCATCACCTT | CATTCGCAACGACA c.1440
T S T A P D G A A L T P P S P S | F A T T p.480
. . . . . . g.99603
GGCGCCTCCTCTGCCAACCGGTTTGTCAGCATCGGACCCCGGGACGGCAACTTTCTGAAC c.1500
G A S S A N R F V S I G P R D G N F L N p.500
. | 11 . g.103907
ATCCCACAGCAGTCTCAG | TCCTGGTTCCTCTGA c.1533
I P Q Q S Q | S W F L X p.510
. . . . . . g.103967
taagatcgacaaaagaaacaacaaaatgagaagaagaggttcctcgaaaggggggagaag c.*60
. . . . . . g.104027
aaattttgagaatggaaaaatcccccagcccagcccagccccaccgaaaagcaaaaatta c.*120
. . . . . . g.104087
cacgtcgtcagccactcagcccttctctcctccagcccggggacccccgcgggccccaga c.*180
. . . . . . g.104147
agcagcccagttctcagagagcccttggaaggggtctcggtggagctgtgcaccagcagc c.*240
. . . . . . g.104207
caagcagaaagaaacacgcgacatggactctgtcaagtagaggacagaaagcaagaaagg c.*300
. . . . . . g.104267
atgcagaactgccttcctccccctgaccccgccccggccttctggggaaggaacaaagtc c.*360
. . . . . . g.104327
cccaaacaaagcaaccagcacaattctgaaggggcctggcctccaccctcaccccttcct c.*420
. . . . . . g.104387
aggggaaccccaccctccacacagccggagctgccctagggagcctggagggccagcttg c.*480
. . . . . . g.104447
taaagatgatggggtttagatccctcaggctctcccctccagactccgcccttccctccc c.*540
. . . . . . g.104507
tccctccctccctccctctctgccaaggctccagcttcttcccccagctgctcccgacca c.*600
. . . . . . g.104567
ggagggggagagcagcctccacttaccccaccccacccttgggctaaaagcccccaggcg c.*660
. . . . . . g.104627
ggcagggggtgacccctggagctagttgcgtgtcccagaatggagggtgttctgacaccc c.*720
. . . . . . g.104687
caccctgagccgcaagagcagtcctggggccctggacccctctgtacagtccgtaggaaa c.*780
. . . . . . g.104747
aagtcggaatgctctcgacggcctcgtcccagcctgggacaggccccctttcccctctct c.*840
. . . . . . g.104807
ctgcaggccaggagggcctccttcctgccacgagggaggggagtcgggccccaggtcgcc c.*900
. . . . . . g.104867
cccgcccccagccctgcatgcaggtgccctcgctccgccccatcagttcctgcccctgcc c.*960
. . . . . . g.104927
cctcatgcagactgccctgctggggccgggccggagggtggagcagaaaggggaccccgg c.*1020
. . . . . . g.104987
agccgagcgaggaggaccaggcagccgccgctgccgcgctaagccaccacctgcgcttag c.*1080
. . . . . . g.105047
gtaggcgtcctgctcgccgactttcagttccttgggagggtgttgggtgtcgtccttttc c.*1140
. . . . . . g.105107
aaaagtgttttggagctttctgtgccccccgactttcccccgcctccccgccccccacgt c.*1200
. . . . . . g.105167
ggccacttttctctggattttagctgtaatgtctttactctttatttaggggtggggcat c.*1260
. . . . . . g.105227
tcattgtttgggtcttttgctgttggaatgggaactcctcctccatttgagcaacttggg c.*1320
. . . . . . g.105287
aacaatttggtaacacaccacaggaagtagctctcccccccagccccctcctccctcaag c.*1380
. . . . . . g.105347
ggagggttggggggcctgtccagagggtcttcagaagcccccctgggagggaggggagga c.*1440
. . . . . . g.105407
tgagcacgcccagctcccctccagggtgtgacttggcccctctggcttgtctttctgtgc c.*1500
. . . . . . g.105467
cttactcctcctcctgcgtctcccgttcctggccccttcttgagtccttgtgcctctctc c.*1560
. . . . . . g.105527
tttctctctctttcttaattgtatgaaaacacaaagcacaggtcaggatcctctgagaga c.*1620
. . . . . . g.105587
aaatcaacattgcaccacgtaggggtgggctatgggctgtatttattgtgaatctagttt c.*1680
. . . . . . g.105647
gtgaggctgtggccccgagctggcggagggagggaagaggagggagtgacgggaggggag c.*1740
. . . . . . g.105707
gaggtcagcgacctggggccgtagcggcaggcgaacggtgcctgctacccagctggaagc c.*1800
. . . . . . g.105767
cacaaggtggctggctccaggggcggcttttgttggaagttgagtgaagccctccccctg c.*1860
. . . . . . g.105827
tcctcagcgtgcagccctagaggaccccagggctgaggggcagtggatcctgcgggagtc c.*1920
. . . . . . g.105887
tcccggggcgtggggagtaaggccccgggggtggggggccgggtgggccgggcgtgacgc c.*1980
. . . . . . g.105947
gcggtcaaagtgcaatgatttttcagttcggttggctaaacagggtcagagctgagagcg c.*2040
. . . . . . g.106007
aagcagaaggggctccctgtccggcccacgtgccctttccctcgacgacagtcgagggct c.*2100
. . . . . . g.106067
cgggctctgtgggactgtgggagctagggtctgcggggcgcctgcccgggcgaggtcgga c.*2160
. . . . . . g.106127
agctgcaggccagctgggcccgggccggagcgtgcccggcggggctgcccgggcgggcag c.*2220
. . . . . . g.106187
ggggtgggggctgctcctttcccaagtggtgttgtgaggggcaatgagggcaacaggaga c.*2280
. . . . . . g.106247
tgtggggacgtgttaggagagaaaaaaaaaaaaacaaaaatatatatgggggaaattaac c.*2340
. . . . . . g.106307
ttttttttttcattgaaccaagtgcaatgcatcagagagttttcctatctttgtatgtta c.*2400
. . . . . . g.106367
agagattaagaaaaaaaaattctatttttgttgtaatgtcctcgcggctctggggacgct c.*2460
. . . . . . g.106427
aaaagaaccgggcctgccccgccctgcgcggggataacgaaagctgagtgtttttccctt c.*2520
. . . . . . g.106487
ttttttgttcgtttttagtttttttttttttaagtcgttttcctgcgttgacgaggatga c.*2580
. . . . . . g.106547
tctggggtttttatttgtttcgtcgttcgttctgtttcggtgggagggctgaaggaaacg c.*2640
. . . . . . g.106607
ttcacattttagagtttaaaaaaaacacctcgacatttaaaaaatcaaccaacacaagat c.*2700
. . . . . . g.106667
caaaaaggaaaaggacgagagaaaaattatttttaagataattaaacataaaaccctggt c.*2760
. . . . . . g.106727
gcttcttacattataaagtacgttttaaagaacccacaaactattatacataagtttatg c.*2820
. . . . . . g.106787
aatcaattaaatatcctgcacttgttaggaatacgcatatcccttctttgttgagtttaa c.*2880
. . . . . . g.106847
cggaacgggacagcggcgtgcccccggcggctggactgctccggccgcgggtctccccgg c.*2940
. . . . . . g.106907
gcgcccctccctggggcccagcacccctcctcgccccatccccgtccgggtacgggggcg c.*3000
. . . . . . g.106967
cggcaggggtccccggcccctcccccgcagaggtcaatgccaacgaacaaacgtcccctc c.*3060
. . . . . . g.107027
cctccctccctctccgccccgagcgcccttctttgagccagacgccaacttgaccctcac c.*3120
. . . . . . g.107087
cagcattatcaggagcgcgctcagcaagttggtagtttcctcccccctttcccggcgccc c.*3180
. . . . . . g.107147
ctcccgcccccattcaacatctctcatcctatccccgaccccctccggggaacaccggga c.*3240
. . . . . . g.107207
aggctcgacgctccaggacaggaccagccacgcagacaggtcgatttgcccaggcccgcg c.*3300
. . . . . . g.107267
cccgcacgcacgcacgcacacggccccgcacacagccccgccccaccccgcaaccagccc c.*3360
. . . . . . g.107327
tgtcgactgccttatacacccgcccccgcgctggccggccgacctagtgccttgttctca c.*3420
. . . . . . g.107387
cccccgtgctggcggagcggacgccgcgctctgggtcccagaggggccgggtggctcaga c.*3480
. . . . . . g.107447
cgacccaccactcccccaccctgaccgtgctgaacagacccccccacacgagagaaaata c.*3540
. . . . . . g.107507
aaggagcaataaagtcacgagaactttcgtcccccaatcgagagcccgaggggcacccca c.*3600
. . . . . . g.107567
gccccgcctctgctcccccccaccccacccaccctcggggcgcccccctccccccgcaag c.*3660
. . . . . . g.107627
ccagcctgggccagccccgcttcggcccctcccgggagatccgtgcgcccgaccagcacc c.*3720
. . . . . . g.107687
agcatcgcggaccgcaaaggccgcccgtcccgtcaaacaagtttcttcttaggctaagaa c.*3780
. . . . . . g.107747
acgcagtatatacgagtatctctatatatagtactaatggatttggtgtgcttccccctt c.*3840
. . . . . . g.107807
agcgtccccctccctctgctcctcctccttcagcctggtctccccctcttctctgccctc c.*3900
. . . . . . g.107867
cacccccgtctctgcactgagatacataagaaacaagggtagtttactgtctgttttgtt c.*3960
. . . . . . g.107927
ttctgggttttcagtgtcctagcggaatgcaagtaggcagccagcccgtctgttccctct c.*4020
. . . . . . g.107987
ccgccccgccccgccccgcccccgtcactgcgcttctgttataccatctttgcctgactc c.*4080
. . . . . . g.108047
tctccggcttctccattgaatggctaatgtgtatgtgaaataaagaaataaagaaaaaca c.*4140
g.108054
aacgcga c.*4147
(downstream sequence)
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