(used for variant description)
(last modified April 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015318.3 in the ARHGEF18 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047135.1, covering ARHGEF18 transcript NM_015318.3.
(upstream sequence)
. . g.5026
ctcgcgcggcttcccgcttccggctc c.-181
. . . . . . g.5086
ccagctgctagctactgtggatctgggggggccggacggaggcatcggaggcggctgcga c.-121
. . . . . | 02 g.50242
gagtggcagaggagctggcggagagcggcctgcgggcgatcgggccgag | cctcgctcaag c.-61
. . . . . . g.50302
gagcacccccggggcaccctcctgtccgatggcagcccggccctgtccaggaatgtcggt c.-1
. . . . . . g.50362
ATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACG c.60
M T V S Q K G G P Q P T P S P A G P G T p.20
| 03 . . . . . g.51592
CAACTCGG | ACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAG c.120
Q L G | P I T G E M D E A D S A F L K F K p.40
. . . . . . g.51652
CAGACAGCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTTTGTAGAA c.180
Q T A D D S L S L T S P N T E S I F V E p.60
| 04 . . . . . . g.51858
G | ATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCT c.240
D | P Y T A S L R S E I E S D G H E F E A p.80
. . . . . . g.51918
GAGTCCTGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTG c.300
E S W S L A V D A A Y A K K Q K R E V V p.100
. . | 05 . . . . g.54129
AAAAGACAAGATGTCCTTTATG | AGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTC c.360
K R Q D V L Y E | L M Q T E V H H V R T L p.120
. . . . . . g.54189
AAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAG c.420
K I M L K V Y S R A L Q E E L Q F S S K p.140
. . . . . . g.54249
GCCATTGGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTC c.480
A I G R L F P C A D D L L E T H S H F L p.160
. . . . . . g.54309
GCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAATTATGTC c.540
A R L K E R R Q E S L E E G S D R N Y V p.180
. . . | 06 . . . g.56957
ATCCAGAAAATCGGCGACCTCCTGGTTCAGCAG | TTTTCAGGTGAAAATGGGGAGAGAATG c.600
I Q K I G D L L V Q Q | F S G E N G E R M p.200
. . . . . . g.57017
AAAGAAAAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTG c.660
K E K Y G V F C S G H N E A V S H Y K L p.220
. . . | 07 . . g.61057
CTGCTTCAGCAAAACAAGAAATTTCAAAACTTGATCAAG | AAAATTGGCAACTTCTCCATC c.720
L L Q Q N K K F Q N L I K | K I G N F S I p.240
. . . . . . g.61117
GTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATAC c.780
V R R L G V Q E C I L L V T Q R I T K Y p.260
. . . | 08. . . g.63377
CCAGTGCTGGTGGAGCGCATCATCCAGAACACGGAAG | CTGGCACTGAGGACTATGAAGAC c.840
P V L V E R I I Q N T E A | G T E D Y E D p.280
. . . . . . g.63437
CTGACCCAGGCCTTGAACCTCATCAAAGATATCATCTCACAAGTGGACGCCAAGGTCAGT c.900
L T Q A L N L I K D I I S Q V D A K V S p.300
. . . . . . g.63497
GAGTGTGAGAAGGGCCAGCGCCTCAGGGAGATCGCAGGGAAGATGGACCTGAAGTCTTCC c.960
E C E K G Q R L R E I A G K M D L K S S p.320
. . . . . . g.63557
AGCAAACTCAAGAACGGGCTCACCTTCCGCAAGGAAGACATGCTTCAGCGGCAGCTCCAC c.1020
S K L K N G L T F R K E D M L Q R Q L H p.340
. . . . | 09 . . g.66228
CTGGAGGGCATGCTATGCTGGAAGACCACATCAGGGCGCTTGAAAG | ATATCCTGGCTATC c.1080
L E G M L C W K T T S G R L K D | I L A I p.360
. . . . . . g.66288
CTGCTGACCGACGTACTTTTGCTGCTACAAGAAAAAGATCAGAAATACGTCTTTGCTTCT c.1140
L L T D V L L L L Q E K D Q K Y V F A S p.380
| 10 . . . . . . g.68456
GTG | GACTCAAAGCCACCCGTCATCTCGTTACAAAAGCTCATCGTGAGGGAAGTGGCCAAC c.1200
V | D S K P P V I S L Q K L I V R E V A N p.400
. . . . . . g.68516
GAGGAGAAAGCGATGTTTCTGATCAGCGCCTCCTTGCAAGGGCCGGAGATGTATGAAATC c.1260
E E K A M F L I S A S L Q G P E M Y E I p.420
. . . . . . g.68576
TACACGAGCTCCAAAGAGGACAGGAACGCCTGGATGGCCCACATCCAAAGGGCTGTGGAG c.1320
Y T S S K E D R N A W M A H I Q R A V E p.440
| 11 . . . . . . g.69848
AG | CTGCCCTGACGAGGAGGAGGGGCCCTTCAGCCTGCCCGAAGAGGAAAGGAAGGTGGTC c.1380
S | C P D E E E G P F S L P E E E R K V V p.460
. . . | 12 . . . g.72065
GAGGCCCGCGCCACGAGACTCCGGGACTTTCAAG | AGCGGTTGAGCATGAAAGACCAGCTG c.1440
E A R A T R L R D F Q E | R L S M K D Q L p.480
. . . . . . g.72125
ATCGCACAGAGCCTCCTAGAGAAACAGCAGATCTACCTGGAGATGGCCGAGATGGGCGGC c.1500
I A Q S L L E K Q Q I Y L E M A E M G G p.500
. . . . . . g.72185
CTCGAAGACCTGCCCCAGCCCCGAGGCCTATTCCGTGGAGGGGACCCATCCGAGACCCTG c.1560
L E D L P Q P R G L F R G G D P S E T L p.520
. . . | 13. . . g.73728
CAGGGGGAGCTAATTCTCAAGTCGGCCATGAGCGAGA | TCGAGGGCATCCAGAGCCTGATC c.1620
Q G E L I L K S A M S E I | E G I Q S L I p.540
. . . . . . g.73788
TGCAGGCAGCTGGGCAGCGCCAACGGCCAGGCGGAAGACGGAGGCAGCTCCACAGGCCCG c.1680
C R Q L G S A N G Q A E D G G S S T G P p.560
. . . . . | 14 . g.74452
CCCAGGAGGGCTGAGACCTTCGCGGGCTACGACTGCACAAACAGCCCCACCAAGA | ATGGC c.1740
P R R A E T F A G Y D C T N S P T K N | G p.580
. . . . . . g.74512
AGTTTCAAGAAGAAAGTCAGCAGCACTGACCCCAGGCCCCGAGACTGGCGAGGCCCCCCA c.1800
S F K K K V S S T D P R P R D W R G P P p.600
. . . . . . g.74572
AACAGCCCGGACTTGAAGCTCAGTGACAGTGACATTCCTGGGAGCTCTGAGGAATCGCCG c.1860
N S P D L K L S D S D I P G S S E E S P p.620
| 15 . . . . . . g.76859
CAGGTG | GTGGAGGCGCCAGGCACGGAATCCGATCCCCGTCTGCCCACCGTCCTGGAGTCG c.1920
Q V | V E A P G T E S D P R L P T V L E S p.640
| 16 . . . . . | 17 . g.77110
GAG | CTTGTCCAGCGGATCCAGACACTGTCCCAGCTGCTCCTGAACCTTCAG | GCGGTAATC c.1980
E | L V Q R I Q T L S Q L L L N L Q | A V I p.660
. . . . . . g.77170
GCCCACCAGGACAGCTATGTGGAGACGCAGCGGGCTGCCATCCAGGAGCGGGAGAAGCAG c.2040
A H Q D S Y V E T Q R A A I Q E R E K Q p.680
. . . . . . g.77230
TTCCGGCTGCAGTCGACGCGTGGGAACCTGCTGCTGGAGCAGGAGCGGCAACGCAACTTC c.2100
F R L Q S T R G N L L L E Q E R Q R N F p.700
. . . . . . g.77290
GAGAAGCAGCGGGAGGAGCGCGCGGCCCTGGAGAAGCTGCAGAGCCAGCTGCGGCACGAG c.2160
E K Q R E E R A A L E K L Q S Q L R H E p.720
. . . . . . g.77350
CAGCAGCGCTGGGAGCGCGAGCGCCAGTGGCAGCACCAGGAGCTGGAGCGTGCGGGCGCG c.2220
Q Q R W E R E R Q W Q H Q E L E R A G A p.740
. . . . . . g.77410
CGGCTGCAGGAGCGCGAGGGCGAGGCGCGGCAGCTACGCGAGCGGCTGGAGCAGGAGCGG c.2280
R L Q E R E G E A R Q L R E R L E Q E R p.760
. . . . . . g.77470
GCCGAGCTGGAGCGCCAGCGCCAGGCCTACCAGCACGACCTGGAGCGGCTGCGCGAGGCC c.2340
A E L E R Q R Q A Y Q H D L E R L R E A p.780
. . . . . . g.77530
CAGCGTGCCGTGGAGCGCGAGCGGGAGCGCCTGGAGCTGCTGCGCCGCCTCAAGAAGCAG c.2400
Q R A V E R E R E R L E L L R R L K K Q p.800
. . . . | 18 . . g.78730
AACACCGCGCCAGGCGCGCTGCCGCCCGACACACTGGCCGAG | GCCCAGCCCCCAAGCCAC c.2460
N T A P G A L P P D T L A E | A Q P P S H p.820
. . . . . . g.78790
CCTCCCAGCTTCAACGGGGAAGGGCTGGAGGGCCCTCGTGTGAGCATGCTGCCATCCGGC c.2520
P P S F N G E G L E G P R V S M L P S G p.840
. . . . . . g.78850
GTGGGGCCAGAGTACGCAGAGCGCCCCGAGGTGGCTCGCCGGGACAGCGCCCCCACCGAG c.2580
V G P E Y A E R P E V A R R D S A P T E p.860
. . . . . . g.78910
AACCGGCTGGCCAAGAGCGATGTGCCCATCCAGCTGCTCAGCGCCACCAACCAGTTCCAG c.2640
N R L A K S D V P I Q L L S A T N Q F Q p.880
. . . . . . g.78970
AGGCAGGCGGCCGTGCAGCAGCAGATCCCCACCAAGCTGGCGGCCTCCACCAAGGGTGGC c.2700
R Q A A V Q Q Q I P T K L A A S T K G G p.900
. . . . | 19 . g.79802
AAGGACAAGGGCGGCAAGAGCAGGGGCTCTCAGCGCTGGGAGAGCTCAG | CGTCCTTCGAC c.2760
K D K G G K S R G S Q R W E S S A | S F D p.920
. . . . . . g.79862
CTGAAGCAGCAGCTGCTGCTCAACAAGCTCATGGGGAAAGATGAGAGCACCTCACGGAAC c.2820
L K Q Q L L L N K L M G K D E S T S R N p.940
. . . . . | 20 . g.80018
CGCCGCTCGCTGAGCCCTATCCTGCCCGGCAGACACAGTCCTGCGCCCCCACCAG | ACCCT c.2880
R R S L S P I L P G R H S P A P P P D | P p.960
. . . . . . g.80078
GGCTTCCCCGCCCCGAGCCCACCGCCAGCTGACAGCCCCTCCGAGGGCTTCTCTCTCAAG c.2940
G F P A P S P P P A D S P S E G F S L K p.980
. . . . . . g.80138
GCCGGGGGCACAGCCCTCCTGCCCGGGCCCCCAGCTCCCTCGCCACTGCCGGCCACACCA c.3000
A G G T A L L P G P P A P S P L P A T P p.1000
. . . . g.80186
CTCAGCGCCAAGGAGGACGCCAGCAAAGAAGACGTCATCTTCTTCTAA c.3048
L S A K E D A S K E D V I F F X p.1015
. | 21. . . . . g.80467
aagggccgtgactcaag | gaaagtttttaatggaaagttgagccagaactaaaccagggag c.*60
. . . . . . g.80527
ctgtctgaaatcatagcaccccatccgggtggcggggagatcaactccgagctgtttttc c.*120
. . . . . . g.80587
cgaggcagtgaggaacggtgccggctctgcacggagctgaggacaggacagaccttgctt c.*180
. . . . . . g.80647
tgagaaggagctgccggccggggccacgctccacagccgccgcgcgacagtggagccaag c.*240
. . . . . . g.80707
ggttagggcaccaggaggggccaggtggcgtcggcagcatctgtccccagaatcaggcag c.*300
. . . . . . g.80767
aatccacttcccaaacagagccccacgcaggttcaccatgaacctcagggtcagggaatg c.*360
. . . . . . g.80827
agccaggcacgggggcatgggcagagagggccacggggcagggcccactgagggaacatc c.*420
. . . . . . g.80887
agtggccctccagtcaggttctgtgggtttggaagcccatcgtgaaaggggctgaccttt c.*480
. . . . . . g.80947
gcccctttttacttggcattggttttgaaaccagctgtttcccaaactctgcttcccaag c.*540
. . . . . . g.81007
ggcaaccgttgctgttcacacgctcagcctgtctgggggagcgggcctctagcttcagcc c.*600
. . . . . . g.81067
agggcgggtacacaccctgggcacagggtcctcagcccccgggaaatgagctcccagggc c.*660
. . . . . . g.81127
tggcgtcccaccttccaggtgggggctggcacatcacagactgtcgagagcgccatgtcc c.*720
. . . . . . g.81187
cagggcatgcagaggatgcacctagagacgttgcagcaagtggacaagtggccgctgtgc c.*780
. . . . . . g.81247
gggcccctcgcttgtagtgagctgttgcagcttacggtccgttccctggaggggtggagg c.*840
. . . . . . g.81307
aaggaggtgttgggcagcatcaaaggtgctgggacatcccagggtggtgagatccatcca c.*900
. . . . . . g.81367
cgatccagctccggtggagaaagggcccatgtcaagccttgttctgcaccccaagcattg c.*960
. . . . . . g.81427
gtggtaggactgggtcctggctgatcgtccttgttcccagtggggtacatgtgagcccct c.*1020
. . . . . . g.81487
gccagggccaagtccttctcccgaacccagggtcctgggaactgcagatcccggggggat c.*1080
. . . . . . g.81547
tcagcccttctcccactgtgctggcagaggcactcctgtgacgctgaatacagtgaacag c.*1140
. . . . . . g.81607
ggacattcccgccactcggggacagatgggcacaagggaggggaaactccatcaggaagt c.*1200
. . . . . . g.81667
gctcccctgggcagaggcgcccactgggtgctgtgggctcaggagggggcggggcaggag c.*1260
. . . . . . g.81727
ctggtgccaaccgggaaccagagccccacagccatacagcccattggtgacaaggtcctg c.*1320
. . . . . . g.81787
agaacacagtggccaggtgtccccaggctcctggcccctccgacgacctcaactctgccc c.*1380
. . . . . . g.81847
agcccggtccctggccatcagcgacgctgtccgccccccgtcagatcccatgtgtgccat c.*1440
. . . . . . g.81907
gtttatcatcagtgttttgtatttttgtactgagtatcggagcactttacagaagctgac c.*1500
. . . . . . g.81967
tgtacattcctgttctgttgtgaagagaacattcccagaccctggcaccctcctgagccg c.*1560
. . . . . . g.82027
gcgtgtgccggtccagccctccgagatgccacaattccttggatgggggagaagttcaag c.*1620
. . . . . . g.82087
gaatttctgctcggccacgcggtgggaaccccgcgtccccgccatgtggcagaggggtct c.*1680
. . . . . . g.82147
cagtcgtgctaggcatcgggcggcagcgccgacagcccttccctcgccagtgcccctcgg c.*1740
. . . . . . g.82207
ccactcctgggttggagcccgattttatttgtaaagttgacagtcgagcaaatgttccta c.*1800
. . . . . . g.82267
ttttcgtgggatctgcacacgtctttgtcagttgtggtcatgatcttagtcacctgctaa c.*1860
. . . . . . g.82327
ttatttttacaatgattacaacatttcctcactgcgggatatttctgacccgctttagaa c.*1920
. . . . g.82373
cttaagacctgattctagcaataaacgtgtccgagatgagcggtga c.*1966
(downstream sequence)
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