(used for variant description)
(last modified September 28, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_002018.3 in the FLII gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering FLII transcript NM_002018.3.
(upstream sequence)
. . . . g.5046
aactccagcacagggggggcccgcactccttggtgcctccgcagtc c.-181
. . . . . . g.5106
ttcgaacagacggggaaactgaggccctaagaggcctaaagcctacacttccccgcggaa c.-121
. . . . . . g.5166
tgcggcgggcgcgggcgggttaaaggggcggggccggcgctggcccagcccgcggctccc c.-61
. . . . . . g.5226
cccagcgccctcgccccggcgctccctagcccggcgcggcccggcagcgagagcggcgcc c.-1
. . . . . . g.5286
ATGGAGGCCACCGGGGTGCTGCCGTTCGTGCGTGGCGTGGACCTCAGCGGCAACGACTTC c.60
M E A T G V L P F V R G V D L S G N D F p.20
| 02 . . . . . . g.6954
AAG | GGCGGCTACTTCCCTGAGAATGTCAAGGCCATGACCAGCCTGCGGTGGCTGAAGCTG c.120
K | G G Y F P E N V K A M T S L R W L K L p.40
. . . . . | 03 . g.7325
AACCGCACTGGCCTCTGCTACCTGCCCGAGGAGCTGGCCGCCCTGCAGAAGCTG | GAACAC c.180
N R T G L C Y L P E E L A A L Q K L | E H p.60
. . . . . . g.7385
TTGTCTGTGAGCCACAACAACCTGACCACGCTTCATGGGGAGCTGTCCAGCCTGCCATCG c.240
L S V S H N N L T T L H G E L S S L P S p.80
| 04 . . . . . . g.8707
CTGCGC | GCCATCGTGGCCCGAGCCAACAGTCTGAAGAATTCCGGAGTCCCCGATGACATC c.300
L R | A I V A R A N S L K N S G V P D D I p.100
. . | 05. . . . g.9095
TTCAAGCTAGATGATCTCTCAGTCCTG | GACTTGAGCCACAACCAGCTGACAGAGTGCCCG c.360
F K L D D L S V L | D L S H N Q L T E C P p.120
. . . . . | 06 . g.9241
CGGGAGCTGGAGAACGCCAAGAACATGCTGGTGCTGAACCTCAGCCACAACAG | CATCGAC c.420
R E L E N A K N M L V L N L S H N S | I D p.140
. . . . . . g.9301
ACCATCCCCAACCAGCTCTTCATCAACCTCACTGACCTACTATACCTGGACCTCAGCGAG c.480
T I P N Q L F I N L T D L L Y L D L S E p.160
. . . . . . g.9361
AACCGCCTGGAGAGCCTGCCCCCGCAGATGCGCCGCCTGGTGCACCTGCAGACGCTCGTG c.540
N R L E S L P P Q M R R L V H L Q T L V p.180
. . . | 07 . . . g.9759
CTCAATGGAAACCCCCTGCTGCATGCACAGCTCCG | GCAGCTCCCAGCGATGACGGCCCTG c.600
L N G N P L L H A Q L R | Q L P A M T A L p.200
. . . . . . g.9819
CAGACCCTGCACCTGCGGAGCACCCAGCGCACCCAGAGCAACCTGCCCACCAGCCTGGAG c.660
Q T L H L R S T Q R T Q S N L P T S L E p.220
. | 08 . . . . g.10238
GGTCTGAGCAACCTCGCAG | ACGTGGATCTGTCCTGCAATGACCTGACACGGGTGCCCGAG c.720
G L S N L A D | V D L S C N D L T R V P E p.240
. . . . . . g.10298
TGTCTGTACACCCTCCCCAGCCTGCGCCGCCTCAACCTCAGCAGCAACCAGATCACGGAG c.780
C L Y T L P S L R R L N L S S N Q I T E p.260
. . . . . . g.10358
CTGTCCCTGTGCATAGACCAGTGGGTGCACGTGGAAACTCTGAACCTGTCCCGAAATCAG c.840
L S L C I D Q W V H V E T L N L S R N Q p.280
. | 09 . . . . . g.10503
CTCACCTCACTGCCC | TCAGCCATTTGCAAGCTGAGCAAGCTGAAGAAGCTGTACCTGAAT c.900
L T S L P | S A I C K L S K L K K L Y L N p.300
. . . . . . g.10563
TCCAACAAGCTGGACTTTGACGGGCTGCCCTCAGGCATTGGCAAGCTCACCAACCTGGAA c.960
S N K L D F D G L P S G I G K L T N L E p.320
. . . . . | 10 . g.11367
GAGTTCATGGCTGCCAACAACAACCTGGAGCTGGTCCCTGAAAGTCTCTGCAG | GTGCCCA c.1020
E F M A A N N N L E L V P E S L C R | C P p.340
. . . . . . g.11427
AAGCTGAGGAAACTTGTCCTGAACAAGAACCACCTGGTGACCCTCCCAGAAGCCATCCAT c.1080
K L R K L V L N K N H L V T L P E A I H p.360
. | 11 . . . . g.11812
TTCCTGACGGAGATCGAG | GTCCTGGATGTGCGGGAGAACCCCAACCTGGTCATGCCGCCC c.1140
F L T E I E | V L D V R E N P N L V M P P p.380
. . . . . . g.11872
AAGCCCGCAGACCGTGCCGCTGAGTGGTACAACATCGACTTCTCGCTGCAGAACCAGCTG c.1200
K P A D R A A E W Y N I D F S L Q N Q L p.400
. . . . | 12 . . g.12114
CGGCTAGCGGGTGCCTCTCCTGCTACCGTGGCTGCAGCTGCAGCTG | CAGGGAGTGGGCCC c.1260
R L A G A S P A T V A A A A A A | G S G P p.420
. . . . . . g.12174
AAGGACCCTATGGCTCGCAAGATGCGACTGCGGAGGCGCAAGGATTCAGCCCAGGATGAC c.1320
K D P M A R K M R L R R R K D S A Q D D p.440
. . . . . . g.12234
CAGGCCAAGCAGGTGCTGAAGGGCATGTCAGATGTTGCCCAGGAGAAGAACAAAAAGCAG c.1380
Q A K Q V L K G M S D V A Q E K N K K Q p.460
| 13 . . . . . . g.12496
GAG | GAGAGCGCAGATGCCCGGGCCCCCAGCGGGAAGGTGCGGCGTTGGGACCAGGGCCTG c.1440
E | E S A D A R A P S G K V R R W D Q G L p.480
. . . . . . g.12556
GAGAAGCCCCGCCTTGACTACTCCGAGTTCTTCACGGAGGACGTGGGCCAGCTGCCCGGA c.1500
E K P R L D Y S E F F T E D V G Q L P G p.500
. . . . . . g.12616
CTGACCATCTGGCAGATAGAGAACTTCGTGCCTGTGCTGGTGGAGGAAGCCTTCCACGGC c.1560
L T I W Q I E N F V P V L V E E A F H G p.520
. . . | 14 . . . g.12923
AAGTTCTACGAGGCTGACTGCTACATTGTGCTCAAG | ACCTTTCTGGATGACAGCGGCTCC c.1620
K F Y E A D C Y I V L K | T F L D D S G S p.540
. . . . . . g.12983
CTCAACTGGGAGATCTACTACTGGATTGGCGGGGAGGCCACACTCGACAAGAAAGCTTGC c.1680
L N W E I Y Y W I G G E A T L D K K A C p.560
. . . . . . g.13043
TCTGCCATCCACGCTGTCAACTTGCGCAACTACCTGGGTGCTGAGTGCCGCACTGTCCGG c.1740
S A I H A V N L R N Y L G A E C R T V R p.580
. . . | 15 . . . g.14532
GAGGAGATGGGCGATGAGAGCGAGGAGTTCCTGCAG | GTGTTTGACAACGACATCTCCTAC c.1800
E E M G D E S E E F L Q | V F D N D I S Y p.600
. . . . . | 16 g.14716
ATTGAGGGTGGAACAGCCAGTGGCTTCTACACTGTGGAAGACACACACTATGTCACCAG | G c.1860
I E G G T A S G F Y T V E D T H Y V T R | p.620
. . . . . . g.14776
ATGTATCGTGTGTATGGGAAAAAGAACATCAAGTTGGAGCCTGTGCCCCTCAAGGGGACC c.1920
M Y R V Y G K K N I K L E P V P L K G T p.640
. | 17 . . . . . g.15079
TCTCTGGACCCAAG | GTTTGTTTTCCTGCTGGACCGAGGGCTAGACATCTACGTATGGCGG c.1980
S L D P R | F V F L L D R G L D I Y V W R p.660
. . . | 18 . . g.15217
GGGGCCCAGGCCACACTGAGCAGCACCACCAAGGCCAG | GCTCTTTGCAGAGAAAATTAAC c.2040
G A Q A T L S S T T K A R | L F A E K I N p.680
. . . . . . g.15277
AAGAATGAGCGGAAAGGGAAGGCTGAGATCACACTGCTGGTGCAGGGCCAGGAGCTCCCA c.2100
K N E R K G K A E I T L L V Q G Q E L P p.700
. . . . . . g.15337
GAGTTCTGGGAGGCACTGGGTGGGGAGCCCTCTGAGATCAAGAAGCACGTGCCTGAAGAC c.2160
E F W E A L G G E P S E I K K H V P E D p.720
. . . | 19 . . . g.15913
TTCTGGCCGCCGCAGCCCAAGCTGTACAAG | GTGGGCCTGGGCTTGGGCTACCTGGAGCTG c.2220
F W P P Q P K L Y K | V G L G L G Y L E L p.740
. . . . . . g.15973
CCACAGATCAACTACAAGCTCTCCGTGGAACATAAGCAGCGTCCCAAGGTGGAGCTGATG c.2280
P Q I N Y K L S V E H K Q R P K V E L M p.760
. | 20 . . . . . g.16113
CCAAGAATGCGGCTG | CTGCAGAGTCTGCTGGACACGCGCTGCGTGTACATTCTGGACTGT c.2340
P R M R L | L Q S L L D T R C V Y I L D C p.780
. . . . . . g.16173
TGGTCCGACGTGTTCATCTGGCTCGGCCGCAAGTCCCCGCGCCTGGTGCGCGCTGCCGCC c.2400
W S D V F I W L G R K S P R L V R A A A p.800
. . . . . . g.16233
CTCAAGCTGGGTCAGGAGCTGTGCGGGATGCTGCACCGGCCACGCCATGCCACGGTCAGC c.2460
L K L G Q E L C G M L H R P R H A T V S p.820
. . | 21. . . . g.16592
CGCAGCCTCGAGGGCACCGAGGCGCAG | GTGTTCAAGGCCAAGTTCAAGAATTGGGACGAT c.2520
R S L E G T E A Q | V F K A K F K N W D D p.840
. . . . . . g.16652
GTGTTGACGGTGGACTACACACGCAATGCGGAGGCCGTGCTGCAGAGCCCGGGTCTCTCC c.2580
V L T V D Y T R N A E A V L Q S P G L S p.860
. . . . . . g.16712
GGGAAGGTGAAACGCGACGCCGAGAAGAAAGACCAGATGAAGGCTGACCTCACTGCGCTT c.2640
G K V K R D A E K K D Q M K A D L T A L p.880
. . . | 22 . . . g.16888
TTCCTGCCGCGGCAGCCGCCCATGTCGCTGGCCGAG | GCGGAGCAGCTGATGGAGGAGTGG c.2700
F L P R Q P P M S L A E | A E Q L M E E W p.900
. . . . . . g.16948
AACGAAGACCTAGACGGCATGGAGGGTTTCGTGCTGGAGGGCAAGAAGTTTGCGCGGCTG c.2760
N E D L D G M E G F V L E G K K F A R L p.920
. . . . . | 23 . g.17092
CCGGAAGAGGAGTTTGGCCACTTCTACACGCAGGACTGCTACGTCTTCCTCTGCAG | GTAC c.2820
P E E E F G H F Y T Q D C Y V F L C R | Y p.940
. . . . . . g.17152
TGGGTGCCTGTGGAGTACGAGGAGGAGGAAAAGAAGGAAGACAAGGAGGAGAAGGCCGAG c.2880
W V P V E Y E E E E K K E D K E E K A E p.960
. . . . . . g.17212
GGCAAAGAAGGCGAGGAAGCAACCGCTGAGGCAGAGGAGAAGCAGCCAGAGGAGGACTTC c.2940
G K E G E E A T A E A E E K Q P E E D F p.980
. . . . . . g.17272
CAGTGCATCGTGTACTTCTGGCAGGGCCGTGAAGCCTCCAATATGGGCTGGCTCACCTTC c.3000
Q C I V Y F W Q G R E A S N M G W L T F p.1000
. . . . . | 24 . g.17463
ACCTTCAGCCTGCAAAAGAAGTTCGAGAGCCTCTTCCCTGGGAAGCTGGAG | GTGGTACGC c.3060
T F S L Q K K F E S L F P G K L E | V V R p.1020
. . . . . . g.17523
ATGACGCAGCAGCAGGAGAACCCCAAGTTCCTGTCCCATTTCAAGAGGAAGTTCATCATC c.3120
M T Q Q Q E N P K F L S H F K R K F I I p.1040
. . . . . . g.17583
CACCGGGGCAAGAGGAAGGCGGTCCAGGGCGCCCAACAGCCCAGCCTCTACCAGATCCGC c.3180
H R G K R K A V Q G A Q Q P S L Y Q I R p.1060
. . | 25 . . . . g.17728
ACCAACGGCAGCGCCCTCTGCACCCG | GTGCATCCAGATCAACACCGACTCCAGCCTCCTC c.3240
T N G S A L C T R | C I Q I N T D S S L L p.1080
. . | 26. . . . g.17887
AACTCCGAGTTCTGCTTCATCCTCAAG | GTTCCCTTTGAGAGTGAGGACAACCAGGGCATC c.3300
N S E F C F I L K | V P F E S E D N Q G I p.1100
. . . . . . g.17947
GTGTATGCCTGGGTGGGCCGGGCATCAGACCCTGACGAAGCCAAGTTGGCAGAAGACATC c.3360
V Y A W V G R A S D P D E A K L A E D I p.1120
. . . | 27 . . . g.18090
CTGAACACCATGTTTGACACCTCCTACAGCAAGCAG | GTTATCAACGAAGGTGAGGAGCCT c.3420
L N T M F D T S Y S K Q | V I N E G E E P p.1140
. . . . . . g.18150
GAGAACTTCTTCTGGGTGGGCATTGGGGCACAGAAGCCCTATGATGACGATGCCGAGTAC c.3480
E N F F W V G I G A Q K P Y D D D A E Y p.1160
. . | 28 . . . . g.18293
ATGAAACACACACGTCTCTTCCG | GTGCTCCAACGAGAAGGGCTACTTTGCAGTGACTGAG c.3540
M K H T R L F R | C S N E K G Y F A V T E p.1180
. . . . . . g.18353
AAATGCTCCGACTTTTGCCAAGATGACCTGGCAGATGATGACATCATGTTGCTAGACAAT c.3600
K C S D F C Q D D L A D D D I M L L D N p.1200
| 29 . . . . . g.18548
GGCCAAGAG | GTCTACATGTGGGTGGGGACCCAGACTAGCCAGGTGGAGATCAAGCTGAGC c.3660
G Q E | V Y M W V G T Q T S Q V E I K L S p.1220
. | 30 . . . . . g.18689
CTGAAGGCCTGCCAG | GTATATATCCAGCACATGCGGTCCAAGGAACATGAGCGGCCGCGC c.3720
L K A C Q | V Y I Q H M R S K E H E R P R p.1240
. . . . . . g.18749
CGGCTGCGCCTGGTCCGCAAGGGCAATGAGCAGCACGCCTTTACCCGCTGCTTCCACGCC c.3780
R L R L V R K G N E Q H A F T R C F H A p.1260
. . . g.18779
TGGAGCGCCTTCTGCAAGGCCCTGGCCTAA c.3810
W S A F C K A L A X p.1269
. . . . . . g.18839
gacaggctggcacagccccaggcttggtgaggaagaggaaggggcctcatccactgtctg c.*60
. . . . . . g.18899
ctagcaaagaatgtactcaggtgacaccacctgctccagccacgtccagtgccacagtcc c.*120
. . . . . . g.18959
ccagtagcctcaagcagcaccaatggggatgaccctgacaggtgccctcaggggtctggg c.*180
. . . . . . g.19019
aaatccaactctctccacagtgtgagtgcacgtgtgaagccccctcactcttccgctagg c.*240
. . . . . . g.19079
gataaagcagatgtggatgccctttaagagatattaaatgcttttattttcaatattaaa c.*300
. . g.19102
aatcagtatttttaatattaaaa c.*323
(downstream sequence)
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