(used for variant description)
(last modified February 17, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001190737.1 in the NFIB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering NFIB transcript NM_001190737.1.
(upstream sequence)
. . . . . g.89992
gggctgtaaccttgaactttcccagcgcggtgacacattctccccgctctccctc c.-481
. . . . . . g.90052
ccgcccgcccgctcgccctcctgcgccctcccgcgcccccctccccgccttttttgaaaa c.-421
. . . . . . g.90112
agcattttaccaccaaccaccaccccaatccaacccacaccgaaccttcgcgcaccccct c.-361
. . . . . . g.90172
acaccccaacaacaacaacaactgcaaaatagaaaacaaatccccaaacccaggcgaaaa c.-301
. . . . . . g.90232
gcagccaacaccggcggcggcggcggcctcggcaagcacggccagcgcgctcggactgca c.-241
. . . . . . g.90292
agagggttaaaagtgtagattggatttcacccctggaaatctagcacgccgagtgaactt c.-181
. . . . . . g.90352
gaatctttggctatttaaggaggactgggtttgttgtgaagttgcggtgatccagcgcag c.-121
. . . . . . g.90412
agccccgtcctgattgatcgcatcgcggggctcagatgactgtaaaatgaatagatgaaa c.-61
. . . . . . g.90472
ttcttgcttctcgaagattttcttgggcatctcccggaaagtgcgttttaaggcgaagtc c.-1
. . . | 02 . . . g.96493
ATGATGTATTCTCCCATCTGTCTCACTCAG | GATGAATTTCACCCATTCATCGAGGCACTT c.60
M M Y S P I C L T Q | D E F H P F I E A L p.20
. . . . . . g.96553
CTTCCACATGTCCGTGCAATTGCCTATACTTGGTTCAACCTGCAGGCTCGAAAACGCAAG c.120
L P H V R A I A Y T W F N L Q A R K R K p.40
. . . . . . g.96613
TACTTTAAAAAGCATGAGAAGCGAATGTCAAAGGATGAAGAAAGAGCAGTCAAAGATGAG c.180
Y F K K H E K R M S K D E E R A V K D E p.60
. . . . . . g.96673
CTTCTCAGTGAAAAGCCTGAAATCAAACAGAAGTGGGCATCCAGGCTCCTTGCCAAACTG c.240
L L S E K P E I K Q K W A S R L L A K L p.80
. . . . . . g.96733
CGCAAAGATATTCGCCAGGAGTATCGAGAGGACTTTGTGCTCACCGTGACTGGCAAGAAG c.300
R K D I R Q E Y R E D F V L T V T G K K p.100
. . . . . . g.96793
CACCCGTGCTGTGTCTTATCCAATCCCGACCAGAAGGGTAAGATTAGGAGAATCGACTGC c.360
H P C C V L S N P D Q K G K I R R I D C p.120
. . . . . . g.96853
CTGCGACAGGCAGACAAAGTCTGGCGTCTGGATCTAGTCATGGTGATCCTGTTCAAAGGC c.420
L R Q A D K V W R L D L V M V I L F K G p.140
. . . . . . g.96913
ATCCCCTTGGAAAGTACCGATGGAGAGCGGCTCATGAAATCCCCACATTGCACAAACCCA c.480
I P L E S T D G E R L M K S P H C T N P p.160
. . . . . . g.96973
GCACTTTGTGTCCAGCCACATCATATCACAGTATCAGTTAAGGAGCTTGATTTGTTTTTG c.540
A L C V Q P H H I T V S V K E L D L F L p.180
. . | 03 . . . . g.224241
GCATACTACGTGCAGGAGCAAG | ATTCTGGACAATCAGGAAGTCCAAGCCACAATGATCCT c.600
A Y Y V Q E Q D | S G Q S G S P S H N D P p.200
. | 04 . . . . . g.248134
GCCAAGAATCCTCCAG | GTTACCTTGAGGATAGTTTTGTAAAATCTGGAGTCTTCAATGTA c.660
A K N P P G | Y L E D S F V K S G V F N V p.220
. . | 05 . . . . g.253753
TCAGAACTTGTAAGAGTATCCAGAA | CGCCCATAACCCAGGGAACTGGAGTCAACTTCCCA c.720
S E L V R V S R T | P I T Q G T G V N F P p.240
. . . . . . g.253813
ATTGGAGAAATCCCAAGCCAACCATACTATCATGACATGAACTCGGGGGTCAATCTTCAG c.780
I G E I P S Q P Y Y H D M N S G V N L Q p.260
. . | 06 . . . . g.257210
AGGTCTCTGTCTTCTCCACCAAGCAG | CAAAAGACCCAAAACTATATCCATAGATGAAAAT c.840
R S L S S P P S S | K R P K T I S I D E N p.280
. . . . . . g.257270
ATGGAACCAAGTCCTACAGGAGACTTTTACCCCTCTCCAAGTTCACCAGCTGCTGGAAGT c.900
M E P S P T G D F Y P S P S S P A A G S p.300
. . | 07 . . . . g.278252
CGAACATGGCACGAAAGAGATCAAG | ATATGTCTTCTCCGACTACTATGAAGAAGCCTGAA c.960
R T W H E R D Q D | M S S P T T M K K P E p.320
. . . . . . g.278312
AAGCCATTGTTCAGCTCTGCATCTCCACAGGATTCTTCCCCAAGACTGAGCACTTTCCCC c.1020
K P L F S S A S P Q D S S P R L S T F P p.340
. . . . | 08 . . g.283379
CAGCACCACCATCCCGGAATACCTGGAGTTGCACACAGTG | TCATCTCAACTCGAACTCCA c.1080
Q H H H P G I P G V A H S V | I S T R T P p.360
. . . . . . g.283439
CCTCCACCTTCACCGTTGCCATTTCCAACACAAGCTATCCTTCCTCCAGCCCCATCGAGC c.1140
P P P S P L P F P T Q A I L P P A P S S p.380
. . . . . . g.283499
TACTTTTCTCATCCAACAATCAGATATCCTCCCCACCTGAATCCTCAGGATACTCTGAAG c.1200
Y F S H P T I R Y P P H L N P Q D T L K p.400
. . . . | 09 . . g.287652
AACTATGTACCTTCTTATGACCCATCCAGTCCACAAACCAGCCAG | CCTAACGGCAGTGGT c.1260
N Y V P S Y D P S S P Q T S Q | P N G S G p.420
. . . . . . g.287712
CAAGTAGTAGGGAAAGTGCCTGGCCATTTCACTCCTGTCTTGGCACCCTCTCCCCATCCC c.1320
Q V V G K V P G H F T P V L A P S P H P p.440
. . . . . . g.287772
AGTGCAGTGCGACCTGTGACCCTGAGCATGACAGATACTAAACCCATCACTACATCCACT c.1380
S A V R P V T L S M T D T K P I T T S T p.460
| 10 . . . . . . g.290958
GAAG | CCTACACAGCCTCAGGCACATCTCAAGCCAATCGATATGTGGGACTAAGCCCAAGA c.1440
E A | Y T A S G T S Q A N R Y V G L S P R p.480
. . | 11. . g.315690
GACCCATCCTTCCTACATCAGCAACAG | TCCTGGTACCTGGGCTAG c.1485
D P S F L H Q Q Q | S W Y L G X p.494
. . . . . . g.315750
cttggttcctttccaagtgtcaaataggacacccatcttaccggccaatgtccaaaatta c.*60
. . . . . . g.315810
cggtttgaacataattggagaacctttccttcaagcagaaacaagcaactgagggaaaaa c.*120
. . . . . . g.315870
gaaacacaacaatagtttaagaaattttttttttaaataaaaaaaaaggaaaagaggaag c.*180
. . . . . . g.315930
actggacaaaacaacacaaaggcagaaaggaaagaaactgaagaaagaagataatagacc c.*240
. . . . . . g.315990
agcaattgcagcacttacaatcactaattcccttaaggttgaaactgtaatgacataaaa c.*300
. . . . . . g.316050
agggtcgatgatatttcactgatggtagatcgcagcccctgcaacgtagcctttgttaca c.*360
. . . . . . g.316110
tgaagtccgctgggaaatagatgttctgtctctatgacaatatattttaactgactttct c.*420
. . . . . . g.316170
agatgccttaatatttgcatgataagctagttttattggtttagtattcttgttgtttac c.*480
. . . . . . g.316230
gcatggaatcactattcctggttatctcaccaacgaaggctaggaggcggcgtcagaggt c.*540
. . . . . . g.316290
gctgggtgacagagccatgagccagccattttataagcactctgatttctaaaagttaaa c.*600
. . . . . . g.316350
aaaaatatatgaaatctctgtagcctttagttatcagtacagatttattaaatttcggcc c.*660
. . . . . . g.316410
cttaacccagccttttccagtgtgtaacccagtttgaaatcttaaaaaaagaaaaaatga c.*720
. . . . . . g.316470
aaaaaaaaggaaaaaaagaaaaaaggaaaaaaacagtttgaacacaaaggctctatggaa c.*780
. . . . . . g.316530
gaaatgcctctatgtaggtgaagtgttctctctgcatgcaacagtaaaaattaatataat c.*840
. . . . . . g.316590
attttccccacaaaagaaacacttaacagaggcaagtgcaatttataaatttatatctaa c.*900
. . . . . . g.316650
aggggaatcatgattataagtccttcagcccttggactctaaattgaggggattaaaaag c.*960
. . . . . . g.316710
aatttaaaataattttgaacgaatttattttcccctcagtttttgagggcattaaaaagg c.*1020
. . . . . . g.316770
cattaaatcaagacaaatcatgtgcttgagaaaaataaaattaatgaaaacacagcactt c.*1080
. . . . . . g.316830
atgttggtttagctgcagcctccttggaggtagaatttatttatttaaaattactggttg c.*1140
. . . . . . g.316890
catcaagaacccatagggtgtacaaaaggttctataaaatctgcattatagagacaaaga c.*1200
. . . . . . g.316950
ggcaggcaaatccatgtcacaagggtaaagcttacagtttacaaactgggaacgccaggg c.*1260
. . . . . . g.317010
tgtaggatataaaaacgcactcttgagaaaacaaatgtaatcagggtgctgaaaacttgc c.*1320
. . . . . . g.317070
atggtgctttcagacattagccttgttcaacaaatttcttgtattgacagatccatagtg c.*1380
. . . . . . g.317130
tgcatgggcagacacattttgcctctatgtctcttaaaattttaattaaaaatactcttt c.*1440
. . . . . . g.317190
ccagtaatcctaatttgcacgaagatataatgtccacattacgtgccttgccttgaaatc c.*1500
. . . . . . g.317250
taaaaaacaaaaaacaaaaaaaaaaaaacaaaaaaatacaacaaagtgacatcactacac c.*1560
. . . . . . g.317310
ttgttttgctgcatttattatcattttaaatctttaccatttttatgacaaaatattttg c.*1620
. . . . . . g.317370
tactccagacgaagaaaaatgtgtgacatcatggattttttagacagttatacctttatc c.*1680
. . . . . . g.317430
tcacatttataaagcatatcatggctgtgtatagttgccgcttaaaaattgtaatcgacc c.*1740
. . . . . . g.317490
agcaatattttcagtattttggtgtttttttctattaacctttcatgtttttcatcttcc c.*1800
. . . . . . g.317550
aattaatatttgggggggaggggtttcaaatttatacgaattatgcaataccaagttttg c.*1860
. . . . . . g.317610
cctatgtaggtagtgcttttagctgtattggttattataggtaagtacacagatttaaaa c.*1920
. . . . . . g.317670
aaaaaataatgtatgcttttttgtttgtttgtttgttttaattgaccaaagtgggtactg c.*1980
. . . . . . g.317730
ctatttttgcagtgtgatgaggtccttttgtgtactgagagatggacaggggattttttt c.*2040
. . . . . . g.317790
taatatacatatatatatattctggggtgggtgggaggatttttaacactttgcagtgta c.*2100
. . . . . . g.317850
gctgtgaagcagtgcaccctgagatgggcctgggctgcaaagcgactgttctgcctactg c.*2160
. . . . . . g.317910
tgacaaacttcaacttacacaggttcccctctctaacttcccacctgggttgcaagctga c.*2220
. . . . . . g.317970
actcattactggttttcataacaacacaatagtaagaacaagcaaacacaacaaattctc c.*2280
. . . . . . g.318030
ctggaggcagacttggcttaaaaaggcagacttggcttggtgatagtttttcttgaaagt c.*2340
. . . . . . g.318090
tccagatccacagtggagagtgagcctgtctcatatttggcaaaaatatttgttgaaatg c.*2400
. . . . . . g.318150
tccacataggggatgttggatgtttaacacttttgagagtttaacacatgaatattcttt c.*2460
. . . . . . g.318210
ctcctagaaaacacattagacctgttggagggagtctcccgtattccttttctgccactt c.*2520
. . . . . . g.318270
ttcgtccccatttcatttcattaatgataggatatgatttacctgtgacttactacttca c.*2580
. . . . . . g.318330
aatggatggcagtgcacttggatttttttttaatatccagaagattgaacagagggttgc c.*2640
. . . . . . g.318390
tattgttgaatgtatttggactgatagattaaaatcaaagttcaatttttaaggaacaaa c.*2700
. . . . . . g.318450
aaagtaaatcctgttttcattttatctccccttttaaaactgagaaccagagcagaaggg c.*2760
. . . . . . g.318510
aaatatagaattttaagcaattaatcttcctgtggatgaattaaacccattagatgctga c.*2820
. . . . . . g.318570
tgggatttttttaaggaatggtaccttaactatatatttgatttcgtttcccctgagggc c.*2880
. . . . . . g.318630
tagaggctgaatggaggctggttttattttgcctttccctcaccgcccagtcccattgag c.*2940
. . . . . . g.318690
tgtattcattactagaaggaaaatctttcagaattggtgacacatggtaggctgtcttaa c.*3000
. . . . . . g.318750
ggagtcccctggcccccttcccctaggccatggcctaataaaataaactgtcaattgttc c.*3060
. . . . . . g.318810
tcacagcatatcatttaataatgaatactttagaacaatgcttatgggctggagaattgt c.*3120
. . . . . . g.318870
atttgattagcccattcagtttgatagcccaaatgctgaacagcacagcgggatcctagc c.*3180
. . . . . . g.318930
agtgcaagttcaaaagtaagtccaatcatttctgtgatactcgccctggtagcaaacaga c.*3240
. . . . . . g.318990
tcatctcagccaagctcttcatgtatctttgacctattaggtgaacaaatgaacctcaca c.*3300
. . . . . . g.319050
ggacacacagtattttttaaaggcagactcgctctcttttttgccagtgagcagttctag c.*3360
. . . . . . g.319110
ctaaccaagttacacactgtgggtattcctgcctgcctcttgaatacaaaggcctagttc c.*3420
. . . . . . g.319170
aagtgttgctttttttatttcaaatcaattttttcttctttcctttttgagataaaacta c.*3480
. . . . . . g.319230
ttaaaagtactactatatatataaaatctcaaatcaacttttcggcctcctcctcgtgta c.*3540
. . . . . . g.319290
ccaggaagtatattctgacgaagggccccacttttgcaggtcttgcacgcccctccctta c.*3600
. . . . . . g.319350
cccagaactgcagagcttcaggatggcgaaggtcacccaagggcatgagtagggagtggt c.*3660
. . . . . . g.319410
gtctccaaccatcagttccgtggcactgttcagcctttgtgtgctgccctgccacccacc c.*3720
. . . . . . g.319470
actcacagtgcctctgaagcgtgttacccctggagtgacgtgagcatttgaggcttgtct c.*3780
. . . . . . g.319530
aaggaaaaaaataaaaggcagtgaaggagactgtacataaagacatggcaaaaatcttaa c.*3840
. . . . . . g.319590
ttatagcaatatagttatcgggtaatgttcgggtgggcagctccattaaaaaatatgtga c.*3900
. . . . . . g.319650
atgaatctgtgaagctgcaagtagcgagaagagcgaaaggtcttcttaatgaaccgccta c.*3960
. . . . . . g.319710
ccttgtagacagtaatttgtacactgtatagttttgttaagaattttttttaaattaaaa c.*4020
. . . . . . g.319770
ttcccatgtttgtaaagctaactttttaacaattataatggaactatatgttgtttccat c.*4080
. . . . . . g.319830
ttttaaagtaaacaagaatattccttgtttagagactggacttgagttaaaactctccag c.*4140
. . . . . . g.319890
tctcttaagttatgtattaaaaagaaaatctgtccatgttaggagttatttcacagattc c.*4200
. . . . . . g.319950
ctgtgcttgaaaagcataggatactaatcctttaaaaaagtgtaaatggagaaaagttat c.*4260
. . . . . . g.320010
attttatgaaggttattttgttgtatttagtattggaaaagttggtttccagagcatttc c.*4320
. . . . . . g.320070
agaatgtcgaagcaccactgtctttttattagtatatacggcctttagcaaaagtttttg c.*4380
. . . . . . g.320130
tgattgttacgtgatggtatttaaggttaagtttcacagagcattcaggataggcagaaa c.*4440
. . . . . . g.320190
actaaaacagtgctatgtctcacataacgtgtcctcagggagcagaatcttggatttgtg c.*4500
. . . . . . g.320250
acttgtagcttcataaggactcaacgaaagagattgcacagggacatcttcagcggtgtg c.*4560
. . . . . . g.320310
acagcaggacatgttctttacctagattcaaattctatgtactgtgtgaaatgatgaagg c.*4620
. . . . . . g.320370
ctgcagaaagttatcccatattcagtgtacagtattcatttttaatgaaacaactctaca c.*4680
. . . . . . g.320430
atattgctggcagataggccccaagcatgacattcaatatagtttacatgttcctgtcaa c.*4740
. . . . . . g.320490
ggtcttttgttaacattaaccagctgcatgctttctggactttaagaaattgggtttcta c.*4800
. . . . . . g.320550
tagaaaactttttttttttttttttttttaatgtgcaggctattcaagttcaatagtaaa c.*4860
. . . . . . g.320610
agctcaaaaatgaatgttctactccatgctgaaggagctgaaagctgccttcttcatatt c.*4920
. . . . . . g.320670
ttgcactttctggtagttcccctgttttttctaattccctaaaattgtgtgggtggagtg c.*4980
. . . . . . g.320730
gagccctgcagttggggggtaacatggaccactgattttgccctttgaccctgcacaatg c.*5040
. . . . . . g.320790
acctttgcatcagccaaactcattgccatgacaactctttgtactgtgtccgtgccacag c.*5100
. . . . . . g.320850
atctgttggtcacattgttaatagtaaaggggacaagttggagacggtcaatttttacat c.*5160
. . . . . . g.320910
tttttgttgcaattttttcttcaatggttgtaagtagtttttttttttttttaataataa c.*5220
. . . . . . g.320970
aagggttcactagttaatactctagaaatatctgtgtgttgcaattcaaatgtatgttga c.*5280
. . . . . . g.321030
gattgtgaaaagcgcttcagtgccactagcttaccggtacactagactaagcccttgatg c.*5340
. . . . . . g.321090
acttattgcatgatacagtaccaggaacaacaggtggcctaaatacatgaaaagcagtgt c.*5400
. . . . . . g.321150
aagctagtgacactaaagccagtcttgtattactgtatttttgacagaatggttttgaaa c.*5460
. . . . . . g.321210
actgtgctacagggactgatgtggcaaatatatctctttatgcagaaggaagtctttttt c.*5520
. . . . . . g.321270
tttcttttttttttttttaagaagtatggctttttatgcatccttcatcgagggcattga c.*5580
. . . . . . g.321330
agttgcatggactgataaaagttgatgcaaaacaagaaagaaacaaacaaaaaaaaaaaa c.*5640
. . . . . . g.321390
ccagcaaaatgtttaccaaaaaactcaaacaaatgagcagtgcctgttcaatttcacagt c.*5700
. . . . . . g.321450
ctctgttgagttcagttgtaaatatgtttcaaatgacattttcttgggaaaaaaaatctc c.*5760
. . . . . . g.321510
tacaacattgtagaatgtgaggggtaactacatcccaggcataggtttctcaaagctgca c.*5820
. . . . . . g.321570
gtagattatgtcttcatcaagctgttaatttgtgcttatatcatatagaacttttagcat c.*5880
. . . . . . g.321630
cctgggaagagctgcccccacctcaatgatatttctctgagaacaacttttgtaggactg c.*5940
. . . . . . g.321690
tgtgtttctttagatacatttagtacaactgtaggtgacgagtagtcagttattgcttgc c.*6000
. . . . . . g.321750
tagctacacaccagggttgatccattttaaaacttttggcattttgtcctcatgggccat c.*6060
. . . . . . g.321810
aaatacagaaccttgtattttaattaaatttttttacaaaaggaggcacatgcacaatct c.*6120
. . . . . . g.321870
ccatgtaacaaacctttagcagtaggatgtattatacgacagttacttaatttctagagt c.*6180
. . . . . . g.321930
tcaggcctctgggatcaaccccagactgggccagaatgttagtgaaggttttattgtgcc c.*6240
. . . . . . g.321990
cggttggaggataacgttctttgggtactttttgtgggttgcaaatgaactcaattgcca c.*6300
. . . . . . g.322050
caagttttaaactggtgtaaatcaagcttgacttaatgtgattgttactgttatatccag c.*6360
. . . . . . g.322110
cctatactgctagcagctgctcatactgcagtcaattactggaagcggatatatttccta c.*6420
. . . . g.322156
tgcaaaaactgtttaaacaataaaatgagctatgctacagactctg c.*6466
(downstream sequence)
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