(used for variant description)
(last modified October 18, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_032496.2 in the ARHGAP9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering ARHGAP9 transcript NM_032496.2.
(upstream sequence)
. g.5019
ctccctgtttctgtcttga c.-121
. . . . . . g.5079
acctgattctttcttcttatctccttcctgtgtccacctcaagactcccaccactaccca c.-61
. . . . . | 02 . g.5444
ggaccaactcctgctcctgaatcttctgatgggccccacaag | gtgacagtgctggctaca c.-1
. . . . . . g.5504
ATGCTATCCAGCCGGTGGTGGCCAAGTTCCTGGGGGATCCTAGGGCTGGGCCCCCGAAGC c.60
M L S S R W W P S S W G I L G L G P R S p.20
. . . . . . g.5564
CCTCCTCGGGGATCCCAGCTCTGTGCCCTCTATGCCTTTACTTATACTGGGGCAGATGGC c.120
P P R G S Q L C A L Y A F T Y T G A D G p.40
. . . . . . g.5624
CAGCAGGTGTCTCTGGCTGAAGGGGATAGGTTCCTACTGCTTCGAAAGACCAACTCCGAC c.180
Q Q V S L A E G D R F L L L R K T N S D p.60
. . . . . . g.5684
TGGTGGTTGGCAAGACGCCTAGAAGCTCCCTCCACCTCTCGACCCATCTTCGTCCCAGCA c.240
W W L A R R L E A P S T S R P I F V P A p.80
. . . . . . g.5744
GCCTATATGATAGAGGAATCCATCCCTTCCCAGAGTCCAACTACCGTCATCCCCGGCCAA c.300
A Y M I E E S I P S Q S P T T V I P G Q p.100
. | 03 . . . . . g.6137
TTGCTCTGGACTCCTG | GGCCGAAGTTGTTTCATGGTTCCCTGGAGGAGTTGTCTCAGGCC c.360
L L W T P G | P K L F H G S L E E L S Q A p.120
. . . . . . g.6197
CTCCCAAGCAGGGCTCAGGCTAGCTCGGAGCAGCCTCCTCCACTTCCCCGCAAAATGTGT c.420
L P S R A Q A S S E Q P P P L P R K M C p.140
. . . . . . g.6257
AGGAGCGTCAGCACTGACAATCTGAGCCCCAGCCTTCTGAAGCCTTTCCAGGAAGGACCA c.480
R S V S T D N L S P S L L K P F Q E G P p.160
. . . . . | 04 . g.7176
AGCGGAAGATCCCTCTCCCAGGAAGACTTGCCGTCAGAAGCCAGTGCCAGCACA | GCAGGC c.540
S G R S L S Q E D L P S E A S A S T | A G p.180
. . . . . . g.7236
CCCCAGCCCCTCATGTCAGAGCCCCCTGTGTACTGTAACCTGGTGGACCTTCGCCGCTGT c.600
P Q P L M S E P P V Y C N L V D L R R C p.200
. . . . . . g.7296
CCTCGGTCCCCACCCCCAGGCCCTGCATGCCCCCTGCTGCAGAGGCTGGATGCCTGGGAG c.660
P R S P P P G P A C P L L Q R L D A W E p.220
. . . . . . g.7356
CAGCACCTGGACCCCAACTCTGGACGCTGCTTCTACATAAATTCACTGACTGGCTGCAAG c.720
Q H L D P N S G R C F Y I N S L T G C K p.240
. . . | 05 . . . g.7605
TCCTGGAAGCCCCCGCGCCGCAGTCGCAGCGAGACG | AACCCTGGCTCCATGGAGGGGACA c.780
S W K P P R R S R S E T | N P G S M E G T p.260
. . . . . . g.7665
CAGACCCTGAAGAGGAACAATGATGTCCTGCAACCTCAGGCAAAGGGCTTCAGATCTGAC c.840
Q T L K R N N D V L Q P Q A K G F R S D p.280
. . . | 06 . . . g.7917
ACAGGGACCCCAGAACCGCTTGACCCACAG | GGTTCACTCAGCCTCAGCCAACGCACCTCG c.900
T G T P E P L D P Q | G S L S L S Q R T S p.300
. . . . . . g.7977
CAGCTTGACCCTCCAGCCTTGCAGGCCCCTCGACCTCTGCCGCAGCTCCTGGACGACCCC c.960
Q L D P P A L Q A P R P L P Q L L D D P p.320
| 07 . . . . . . g.8256
CAT | GAGGTGGAAAAGTCGGGTCTGCTCAACATGACCAAGATTGCCCAAGGGGGGCGCAAG c.1020
H | E V E K S G L L N M T K I A Q G G R K p.340
| 08 . . . . . . g.8451
CTCAG | GAAGAACTGGGGCCCGTCTTGGGTGGTGTTAACGGGTAACAGCCTGGTGTTCTAC c.1080
L R | K N W G P S W V V L T G N S L V F Y p.360
. . . | 09 . . . g.8708
CGAGAGCCACCGCCGACAGCGCCCTCCTCAGGCTGG | GGACCAGCGGGTAGCCGGCCCGAA c.1140
R E P P P T A P S S G W | G P A G S R P E p.380
. . . . . . g.8768
AGTAGCGTGGACCTGCGCGGGGCGGCCCTGGCGCACGGCCGCCACCTGTCCAGCCGCCGC c.1200
S S V D L R G A A L A H G R H L S S R R p.400
. | 10 . . . . . g.8967
AACGTCCTGCAC | ATCCGCACGATCCCTGGCCACGAGTTCCTGCTGCAGTCGGACCACGAG c.1260
N V L H | I R T I P G H E F L L Q S D H E p.420
. . . . . | 11 . g.9244
ACAGAGCTGCGAGCCTGGCACCGCGCGCTGCGGACTGTCATCGAGCGGCTG | GATCGGGAG c.1320
T E L R A W H R A L R T V I E R L | D R E p.440
. . . . . . g.9304
AACCCCCTGGAGCTGCGTCTGTCGGGCTCTGGACCCGCGGAGCTGAGCGCCGGGGAGGAC c.1380
N P L E L R L S G S G P A E L S A G E D p.460
. . . . . . g.9364
GAAGAAGAGGAGTCGGAGCTGGTGTCCAAGCCGCTGCTGCGCCTCAGCAGCCGCCGGAGC c.1440
E E E E S E L V S K P L L R L S S R R S p.480
| 12 . . . . . . g.9508
TCCA | TTCGGGGGCCCGAAGGCACCGAGCAGAACCGCGTGCGCAACAAACTAAAGCGGCTC c.1500
S I | R G P E G T E Q N R V R N K L K R L p.500
. . . . . | 13 . g.9885
ATCGCGAAGAGACCGCCCTTACAAAGCCTGCAGGAGCGGGGTCTGCTCCGAG | ACCAGGTG c.1560
I A K R P P L Q S L Q E R G L L R D | Q V p.520
. . . . . . g.9945
TTCGGCTGCCAGTTGGAATCACTCTGCCAGCGGGAAGGAGACACGGTGCCCAGCTTTTTG c.1620
F G C Q L E S L C Q R E G D T V P S F L p.540
. . . | 14 . . . g.10176
CGGCTCTGCATTGCTGCTGTGGATAAAAGAG | GTCTAGATGTGGATGGCATTTATCGGGTG c.1680
R L C I A A V D K R G | L D V D G I Y R V p.560
. . . . | 15 . g.10385
AGCGGGAACTTGGCAGTGGTCCAGAAGCTTCGCTTTCTGGTGGACAGAG | AGCGTGCGGTC c.1740
S G N L A V V Q K L R F L V D R E | R A V p.580
. . . . | 16 . . g.10691
ACCTCCGATGGGAGGTATGTGTTCCCAGAACAGCCAGGACAAG | AAGGTCGGTTAGATTTG c.1800
T S D G R Y V F P E Q P G Q E | G R L D L p.600
. . . . . . g.10751
GACAGTACTGAGTGGGATGACATTCATGTGGTCACCGGAGCCCTGAAGCTTTTTCTCCGG c.1860
D S T E W D D I H V V T G A L K L F L R p.620
. . . . . | 17 g.11144
GAGCTGCCCCAGCCTCTGGTGCCACCACTGCTGCTGCCCCATTTCCGTGCTGCCCTTG | CA c.1920
E L P Q P L V P P L L L P H F R A A L A | p.640
. . . . . . g.11204
CTCTCCGAATCAGAGCAGTGCCTCTCTCAGATACAAGAATTAATAGGCTCAATGCCAAAG c.1980
L S E S E Q C L S Q I Q E L I G S M P K p.660
. . . . | 18 . . g.12178
CCCAACCATGACACTCTACGGTACCTCCTGGAGCATTTATGCAG | GGTGATAGCACACTCA c.2040
P N H D T L R Y L L E H L C R | V I A H S p.680
. . . . . . g.12238
GATAAGAATCGCATGACACCCCACAACCTGGGAATTGTGTTTGGACCAACCCTGTTTCGG c.2100
D K N R M T P H N L G I V F G P T L F R p.700
. . . . . . g.12298
CCAGAGCAGGAGACATCTGACCCAGCAGCCCATGCTCTCTACCCAGGGCAGCTGGTCCAG c.2160
P E Q E T S D P A A H A L Y P G Q L V Q p.720
. . . g.12334
CTGATGCTCACCAACTTCACCAGCCTCTTCCCCTGA c.2196
L M L T N F T S L F P X p.731
. . . . . . g.12394
tgcagggaaggaagaagagaaaacatatttccggtcatctctggtggtgagaggctggtg c.*60
. . . . . . g.12454
ttctgttttgaggatatccctttaaatctcccaaatgactgtctctatcttcatgagtgt c.*120
. . . . . . g.12514
gacttgaggtgttgggatgggtgagggagcttctctaaagaggaaagtgagtggattaac c.*180
. . . . . . g.12574
ccctgcttctcttcttgttccctgttatcattcctccccaacataataatacataaagtg c.*240
. . g.12596
gcatggtattttttctgatgca c.*262
(downstream sequence)
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