(used for variant description)
(last modified August 13, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_013427.2 in the ARHGAP6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012494.1, covering ARHGAP6 transcript NM_013427.2.
(upstream sequence)
. . . g.5033
ggctgggctgcgaatagcgtgttcctctccggc c.-841
. . . . . . g.5093
ggaacacacacacccggccttggggctgtctcctgagctccctcctccacggagagcgct c.-781
. . . . . . g.5153
gagcgccgccgggaattccatcccaccgtgggcacgcagtctttggaggtcccgggcgca c.-721
. . . . . . g.5213
gcacgctcggtgtccccacactgcagcaagacagagaccccgcgggaaccttgagcttgg c.-661
. . . . . . g.5273
aacaacccttgagcctctgcagtcggaagagtgggcgcagcagcccagcggaggccaggc c.-601
. . . . . . g.5333
gcgcaacctcgggcgccggggcaaggagagagtgcagggaggcgcagctcaggcgcccgg c.-541
. . . . . . g.5393
ctcaggagcgggaggaagttctcgcggcgccgggagcgcggtggacgcgccctgggcgca c.-481
. . . . . . g.5453
cgcccaggcagccttctccctggccctcgggactgtcctcgggccgcaaggaggagcttg c.-421
. . . . . . g.5513
ctggagtcttagaggccatccagagccagcgagcaggagcgctgcgtctcccgcctcagc c.-361
. . . . . . g.5573
taggaagggggagtggcgctggcaggctggagctgggaacccagcgagcgcctgaccttc c.-301
. . . . . . g.5633
ctcctcctcttcctgaccctcttcgcgtcttgggctccggaggaaggttctagcggctgc c.-241
. . . . . . g.5693
aggaggtccccagacccattttcctagaaggctggtgatggatctgctgctcctgccgcc c.-181
. . . . . . g.5753
gccggggcacttggagcgcaccggcggcgcgtgagctgggctttgctctccactgccctg c.-121
. . . . . . g.5813
ggcaaaccccgggccagccccgcctggcacctttgcctgagtccctttcggttcccgacc c.-61
. . . . . . g.5873
caaagccaccagcgtccagggagggaggaggaggtggtcctcaggtgcagccccgccgag c.-1
. . . . . . g.5933
ATGTCCGCGCAGAGCCTGCTCCACAGCGTCTTCTCCTGTTCCTCGCCCGCTTCAAGTAGC c.60
M S A Q S L L H S V F S C S S P A S S S p.20
. . . . . . g.5993
GCGGCCTCGGCCAAGGGCTTCTCCAAGAGGAAGCTGCGCCAGACCCGCAGCCTGGACCCG c.120
A A S A K G F S K R K L R Q T R S L D P p.40
. . . . . . g.6053
GCCCTGATCGGCGGCTGCGGGAGCGACGAGGCGGGCGCGGAGGGCAGTGCGCGGGGAGCC c.180
A L I G G C G S D E A G A E G S A R G A p.60
. . . . . . g.6113
ACGGCGGGCCGCCTCTACTCCCCATCACTCCCAGCCGAGAGTCTCGGCCCTCGCTTGGCG c.240
T A G R L Y S P S L P A E S L G P R L A p.80
. . . . . . g.6173
TCCTCTTCCCGGGGTCCGCCCCCCAGGGCCACCAGGCTACCGCCTCCTGGACCTCTTTGC c.300
S S S R G P P P R A T R L P P P G P L C p.100
. . . . . . g.6233
TCGTCCTTCTCCACACCCAGCACCCCGCAGGAGAAGTCACCATCCGGCAGCTTTCACTTT c.360
S S F S T P S T P Q E K S P S G S F H F p.120
. . . . . . g.6293
GACTATGAGGTTCCCCTGGGTCGCGGCGGCCTCAAGAAGAGCATGGCCTGGGACCTGCCT c.420
D Y E V P L G R G G L K K S M A W D L P p.140
. . . . . . g.6353
TCTGTCCTGGCCGGGCCAGCCAGTAGCCGAAGCGCTTCCAGCATCCTCTGTTCATCCGGG c.480
S V L A G P A S S R S A S S I L C S S G p.160
. . . . . . g.6413
GGAGGCCCCAATGGCATCTTCGCTTCTCCTAGGAGGTGGCTCCAGCAGAGGAAGTTCCAG c.540
G G P N G I F A S P R R W L Q Q R K F Q p.180
. . . . | 02 . g.416006
TCCCCACCCGACAGTCGCGGGCACCCCTACGTCGTGTGGAAATCCGAG | GGTGATTTCACC c.600
S P P D S R G H P Y V V W K S E | G D F T p.200
. . . . . . g.416066
TGGAACAGCATGTCAGGCCGCAGTGTACGGCTGAGGTCAGTCCCCATCCAGAGTCTCTCA c.660
W N S M S G R S V R L R S V P I Q S L S p.220
. . . . . . g.416126
GAGCTGGAGAGGGCCCGGCTGCAGGAAGTGGCTTTTTATCAGTTGCAACAGGACTGTGAC c.720
E L E R A R L Q E V A F Y Q L Q Q D C D p.240
. . | 03 . . . g.473737
CTGAGCTGTCAGATCACCATTCCCAAAG | ATGGACAAAAGAGAAAGAAATCTTTAAGAAAG c.780
L S C Q I T I P K D | G Q K R K K S L R K p.260
. . . . | 04 . . g.481737
AAACTGGATTCACTAGGAAAGGAGAAAAACAAAGACAAAG | AATTCATCCCACAGGCATTT c.840
K L D S L G K E K N K D K E | F I P Q A F p.280
. . . . . . g.481797
GGAATGCCCTTATCCCAAGTCATTGCGAATGACAGGGCCTATAAACTCAAGCAGGACTTG c.900
G M P L S Q V I A N D R A Y K L K Q D L p.300
. . . . . . g.481857
CAGAGGGACGAGCAGAAAGATGCATCTGACTTTGTGGCTTCCCTCCTCCCATTTGGAAAT c.960
Q R D E Q K D A S D F V A S L L P F G N p.320
. . . . . . g.481917
AAAAGACAAAACAAAGAACTCTCAAGCAGTAACTCATCTCTCAGCTCAACCTCAGAAACA c.1020
K R Q N K E L S S S N S S L S S T S E T p.340
. . . . . | 05. g.484273
CCGAATGAGTCAACGTCCCCAAACACCCCGGAACCGGCTCCTCGGGCTAGGAGGAGG | GGT c.1080
P N E S T S P N T P E P A P R A R R R | G p.360
. . . . . . g.484333
GCCATGTCAGTGGATTCTATCACCGATCTTGATGACAATCAGTCTCGACTACTAGAAGCT c.1140
A M S V D S I T D L D D N Q S R L L E A p.380
. . . . . . g.484393
TTACAACTTTCCTTGCCTGCTGAGGCTCAAAGTAAAAAGGAAAAAGCCAGAGATAAGAAA c.1200
L Q L S L P A E A Q S K K E K A R D K K p.400
. . . . . . g.484453
CTCAGTCTGAATCCTATTTACAGACAGGTCCCTAGGCTGGTGGACAGCTGCTGTCAGCAC c.1260
L S L N P I Y R Q V P R L V D S C C Q H p.420
. | 06 . . . . . g.488630
CTAGAAAAACATG | GCCTCCAGACAGTGGGGATATTCCGAGTTGGAAGCTCAAAAAAGAGA c.1320
L E K H G | L Q T V G I F R V G S S K K R p.440
| 07 . . . . . g.491300
GTGAGACAA | TTACGTGAGGAATTTGACCGTGGGATTGATGTCTCTCTGGAGGAGGAGCAC c.1380
V R Q | L R E E F D R G I D V S L E E E H p.460
. . . . . . g.491360
AGTGTTCATGATGTGGCAGCCTTGCTGAAAGAGTTCCTGAGGGACATGCCAGACCCCCTT c.1440
S V H D V A A L L K E F L R D M P D P L p.480
. . . . | 08 . . g.492473
CTCACCAGGGAGCTGTACACAGCTTTCATCAACACTCTCT | TGTTGGAGCCGGAGGAACAG c.1500
L T R E L Y T A F I N T L L | L E P E E Q p.500
. . . . . . g.492533
CTGGGCACCTTGCAGCTCCTCATATACCTTCTACCTCCCTGCAACTGCGACACCCTCCAC c.1560
L G T L Q L L I Y L L P P C N C D T L H p.520
. . . . . . g.492593
CGCCTGCTACAGTTCCTCTCCATCGTGGCCAGGCATGCCGATGACAACATCAGCAAAGAT c.1620
R L L Q F L S I V A R H A D D N I S K D p.540
| 09 . . . . . g.501068
GGGCAAGAG | GTCACTGGGAATAAAATGACATCTCTAAACTTAGCCACCATATTTGGACCC c.1680
G Q E | V T G N K M T S L N L A T I F G P p.560
. . . . . . g.501128
AACCTGCTGCACAAGCAGAAGTCATCAGACAAAGAATTCTCAGTTCAGAGTTCAGCCCGG c.1740
N L L H K Q K S S D K E F S V Q S S A R p.580
. . . . . . g.501188
GCTGAGGAGAGCACGGCCATCATCGCTGTTGTGCAAAAGATGATTGAAAATTATGAAGCC c.1800
A E E S T A I I A V V Q K M I E N Y E A p.600
| 10 . . . . . g.514126
CTGTTCATG | GTTCCCCCAGATCTCCAGAACGAAGTGCTGATCAGCCTGTTAGAGACCGAT c.1860
L F M | V P P D L Q N E V L I S L L E T D p.620
. . . . | 11. . g.526466
CCTGATGTCGTGGACTATTTACTCAGAAGAAAGGCTTCCCAATCATC | AAGCCCTGACATG c.1920
P D V V D Y L L R R K A S Q S S | S P D M p.640
. . . . . . g.526526
CTGCAGTCGGAAGTTTCCTTTTCCGTGGGAGGGAGGCATTCATCTACAGACTCCAACAAG c.1980
L Q S E V S F S V G G R H S S T D S N K p.660
. . . . . . g.526586
GCCTCCAGCGGAGACATCTCCCCTTATGACAACAACTCCCCAGTGCTGTCTGAGCGCTCC c.2040
A S S G D I S P Y D N N S P V L S E R S p.680
. . . . . . g.526646
CTGCTGGCTATGCAAGAGGACGCGGCCCCGGGGGGCTCGGAGAAGCTTTACAGAGTGCCA c.2100
L L A M Q E D A A P G G S E K L Y R V P p.700
. . . . . . g.526706
GGGCAGTTTATGCTGGTGGGCCACTTGTCGTCGTCAAAGTCAAGGGAAAGTTCTCCTGGA c.2160
G Q F M L V G H L S S S K S R E S S P G p.720
. | 12 . . . . . g.528432
CCAAGGCTTGGGAAAG | ATCTGTCAGAGGAGCCTTTCGATATCTGGGGAACTTGGCATTCA c.2220
P R L G K D | L S E E P F D I W G T W H S p.740
. . . | 13. . . g.531194
ACATTAAAAAGCGGATCCAAAGACCCAGGAATGACAG | GTTCCTCTGGAGACATTTTTGAA c.2280
T L K S G S K D P G M T G | S S G D I F E p.760
. . . . . . g.531254
AGCAGCTCCCTAAGAGCGGGGCCCTGCTCCCTTTCTCAAGGGAACCTGTCCCCAAATTGG c.2340
S S S L R A G P C S L S Q G N L S P N W p.780
. . . . . . g.531314
CCTCGGTGGCAGGGGAGCCCCGCAGAGCTGGACAGCGACACGCAGGGGGCTCGGAGGACT c.2400
P R W Q G S P A E L D S D T Q G A R R T p.800
. . . . . . g.531374
CAGGCCGCAGCCCCCGCGACGGAGGGCAGGGCCCACCCTGCGGTGTCGCGCGCCTGCAGC c.2460
Q A A A P A T E G R A H P A V S R A C S p.820
. . . . . . g.531434
ACGCCCCACGTCCAGGTGGCAGGGAAAGCCGAGCGGCCCACGGCCAGGTCGGAGCAGTAC c.2520
T P H V Q V A G K A E R P T A R S E Q Y p.840
. . . . . . g.531494
TTGACCCTGAGCGGCGCCCACGACCTCAGCGAGAGTGAGCTGGATGTGGCCGGGCTGCAG c.2580
L T L S G A H D L S E S E L D V A G L Q p.860
. . . . . . g.531554
AGCCGGGCCACACCTCAGTGCCAAAGACCCCATGGGAGTGGGAGGGATGACAAGCGGCCC c.2640
S R A T P Q C Q R P H G S G R D D K R P p.880
. . . . . . g.531614
CCGCCTCCATACCCGGGCCCAGGGAAGCCCGCGGCAGCGGCAGCCTGGATCCAGGGGCCC c.2700
P P P Y P G P G K P A A A A A W I Q G P p.900
. . . . . . g.531674
CCGGAAGGCGTGGAGACACCCACGGACCAGGGAGGCCAAGCAGCCGAGCGAGAGCAGCAG c.2760
P E G V E T P T D Q G G Q A A E R E Q Q p.920
. . . . . . g.531734
GTCACGCAGAAAAAACTGAGCAGCGCCAACTCCCTGCCAGCGGGCGAGCAGGACAGTCCG c.2820
V T Q K K L S S A N S L P A G E Q D S P p.940
. . . . . . g.531794
CGCCTGGGGGACGCTGGCTGGCTCGACTGGCAGAGAGAGCGCTGGCAGATCTGGGAGCTC c.2880
R L G D A G W L D W Q R E R W Q I W E L p.960
. . . . g.531839
CTGTCGACCGACAACCCCGATGCCCTGCCCGAGACGCTGGTCTGA c.2925
L S T D N P D A L P E T L V X p.974
. . . . . . g.531899
gcccgcacccagccgagccccccctgccccgagccccccgccctccagcccaggggggac c.*60
. . . . . . g.531959
cgtgggtggtggccactggcacacttagtgttcttctttcacacttctcaaaagtgacac c.*120
. . . . . . g.532019
aagagaaatccagttcacctacagaggtagagcactcacgcccccgccattgagaataag c.*180
. . . . . . g.532079
gttccattgcgtagccagccttaggaaaaacaaacagaacccaaaccagatggcaatgtc c.*240
. . . . . . g.532139
caatctaaaaacgtccctcttggctctataatataagatacaactcttgcttggtatagc c.*300
. . . . . . g.532199
ctaaccgtatttatgtgtcttcggttttgactattgtgtattctgtaacagattatgtat c.*360
. . . . . . g.532259
aatcatatatgatatattcacaaagagaaaacaaaaggaacttttaaaaaaaaaatcact c.*420
. . . . . . g.532319
tcacttatattaagcaatgagatatactaaacaatgagattctatagaatgttctagaat c.*480
. . . . . . g.532379
gtgcacaagcgggtttctgtgcttttgccatagctttataactggggataacccttcctt c.*540
. . . . . . g.532439
cgataccaaacactaacaagaggaagcagaatatgagaagccatatttttacataggagt c.*600
. . . . . . g.532499
cagatacaaaaagaaaaatcactgaatgcttttagatattgaatacgttttcaggaaaat c.*660
. . . . . . g.532559
gctaaatctgatagattacgaaatatatttttagaacttgtttagaaaggattcagttaa c.*720
. . . . . . g.532619
ccaaacaagaaaaaggcagtgcctcacaaagaaattaagaagttgtccgtcccacgttac c.*780
. . . . . . g.532679
atcaaattcagttttatataggccatatataatatatatttataatgtataatttttatg c.*840
. . . . . . g.532739
tatttttcaaaactacaaactggaatccaactataaagtgtttaagaatctacacagaat c.*900
. . . . . . g.532799
attcaaattatagaacatgttttttccctttgccccataatcagtatttgccaaattaca c.*960
. . . . . . g.532859
tgcaattccttaaaaactaaatcacatttggtaaaaggcctacagctttgtacttacatt c.*1020
. . . . . . g.532919
gtgccaaaggctgaggaaatgttttctttcgtaattttatgtgtattgtaaaatgttcta c.*1080
. . . . . . g.532979
ccgtactttagtagtttgaagtttttcaagtgcataactatttttgaccagcagatggcg c.*1140
. . . . . . g.533039
atacgcttcagtattttatgcaattttttttcacttctgaagggaaagtgtattataaaa c.*1200
. . . . . . g.533099
aaagattttttttttttttataaaacatgctactcttaattttcatgttggtgatgaaat c.*1260
. . . . . . g.533159
tcccagtggtgtttcttaaggttctatcttgtgccatgatgaataaaaagttaagcaaag c.*1320
(downstream sequence)
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