(used for variant description)
(last modified November 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_005163.2 in the AKT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012188.1, covering AKT1 transcript NM_005163.2.
(upstream sequence)
. g.7157
taattatgggtctg c.-541
. . . . . . g.7217
taaccaccctggactgggtgctcctcactgacggacttgtctgaacctctctttgtctcc c.-481
. . . . . . g.7277
agcgcccagcactgggcctggcaaaacctgagacgcccggtacatgttggccaaatgaat c.-421
. . . . . . g.7337
gaaccagattcagaccggcaggggcgctgtggtttaggaggggcctggggtttctcccag c.-361
. . . . . . g.7397
gaggtttttgggcttgcgctggagggctctggactcccgtttgcgccagtggcctgcatc c.-301
. . . . . . g.7457
ctggtcctgtcttcctcatgtttgaatttctttgctttcctagtctggggagcagggagg c.-241
. . . . . . g.7517
agccctgtgccctgtcccaggatccatgggtaggaacaccatggacagggagagcaaacg c.-181
. . . . . . g.7577
gggccatctgtcaccaggggcttagggaaggccgagccagcctgggtcaaagaagtcaaa c.-121
. . . . . | 02 . g.8041
ggggctgcctggaggaggcagcctgtcagctggtgcatcag | aggctgtggccaggccagc c.-61
. . . . . . g.8101
tgggctcggggagcgccagcctgagaggagcgcgtgagcgtcgcgggagcctcgggcacc c.-1
. . . . | 03 . . g.20542
ATGAGCGACGTGGCTATTGTGAAGGAGGGTTGGCTGCACAAACGAG | GGGAGTACATCAAG c.60
M S D V A I V K E G W L H K R G | E Y I K p.20
. . . . . . g.20602
ACCTGGCGGCCACGCTACTTCCTCCTCAAGAATGATGGCACCTTCATTGGCTACAAGGAG c.120
T W R P R Y F L L K N D G T F I G Y K E p.40
. . . . . | 04 . g.23979
CGGCCGCAGGATGTGGACCAACGTGAGGCTCCCCTCAACAACTTCTCTGTGGCGC | AGTGC c.180
R P Q D V D Q R E A P L N N F S V A Q | C p.60
. . . . . . g.24039
CAGCTGATGAAGACGGAGCGGCCCCGGCCCAACACCTTCATCATCCGCTGCCTGCAGTGG c.240
Q L M K T E R P R P N T F I I R C L Q W p.80
. . . . | 05. . g.24958
ACCACTGTCATCGAACGCACCTTCCATGTGGAGACTCCTGAGGAGCG | GGAGGAGTGGACA c.300
T T V I E R T F H V E T P E E R | E E W T p.100
. . . . . . g.25018
ACCGCCATCCAGACTGTGGCTGACGGCCTCAAGAAGCAGGAGGAGGAGGAGATGGACTTC c.360
T A I Q T V A D G L K K Q E E E E M D F p.120
. . . . . . g.25078
CGGTCGGGCTCACCCAGTGACAACTCAGGGGCTGAAGAGATGGAGGTGTCCCTGGCCAAG c.420
R S G S P S D N S G A E E M E V S L A K p.140
. | 06 . . . . . g.25582
CCCAAGCACCGCGTG | ACCATGAACGAGTTTGAGTACCTGAAGCTGCTGGGCAAGGGCACT c.480
P K H R V | T M N E F E Y L K L L G K G T p.160
. . . . . . g.25642
TTCGGCAAGGTGATCCTGGTGAAGGAGAAGGCCACAGGCCGCTACTACGCCATGAAGATC c.540
F G K V I L V K E K A T G R Y Y A M K I p.180
. . | 07. . . . g.25774
CTCAAGAAGGAAGTCATCGTGGCCAAG | GACGAGGTGGCCCACACACTCACCGAGAACCGC c.600
L K K E V I V A K | D E V A H T L T E N R p.200
. . . | 08 . . . g.26791
GTCCTGCAGAACTCCAGGCACCCCTTCCTCACA | GCCCTGAAGTACTCTTTCCAGACCCAC c.660
V L Q N S R H P F L T | A L K Y S F Q T H p.220
. . . . | 09 . . g.27182
GACCGCCTCTGCTTTGTCATGGAGTACGCCAACGGGGGCGAG | CTGTTCTTCCACCTGTCC c.720
D R L C F V M E Y A N G G E | L F F H L S p.240
. . . . . . g.27242
CGGGAGCGTGTGTTCTCCGAGGACCGGGCCCGCTTCTATGGCGCTGAGATTGTGTCAGCC c.780
R E R V F S E D R A R F Y G A E I V S A p.260
. . . . | 10 . g.27377
CTGGACTACCTGCACTCGGAGAAGAACGTGGTGTACCGGGACCTCAAG | CTGGAGAACCTC c.840
L D Y L H S E K N V V Y R D L K | L E N L p.280
. . . . . . g.27437
ATGCTGGACAAGGACGGGCACATTAAGATCACAGACTTCGGGCTGTGCAAGGAGGGGATC c.900
M L D K D G H I K I T D F G L C K E G I p.300
. . . . . | 11. g.27655
AAGGACGGTGCCACCATGAAGACCTTTTGCGGCACACCTGAGTACCTGGCCCCCGAG | GTG c.960
K D G A T M K T F C G T P E Y L A P E | V p.320
. . . . . . g.27715
CTGGAGGACAATGACTACGGCCGTGCAGTGGACTGGTGGGGGCTGGGCGTGGTCATGTAC c.1020
L E D N D Y G R A V D W W G L G V V M Y p.340
. . . . . . g.27775
GAGATGATGTGCGGTCGCCTGCCCTTCTACAACCAGGACCATGAGAAGCTTTTTGAGCTC c.1080
E M M C G R L P F Y N Q D H E K L F E L p.360
. . . . . . g.27835
ATCCTCATGGAGGAGATCCGCTTCCCGCGCACGCTTGGTCCCGAGGCCAAGTCCTTGCTT c.1140
I L M E E I R F P R T L G P E A K S L L p.380
. . . | 12 . . . g.28320
TCAGGGCTGCTCAAGAAGGACCCCAAGCAGAG | GCTTGGCGGGGGCTCCGAGGACGCCAAG c.1200
S G L L K K D P K Q R | L G G G S E D A K p.400
. . . . . . g.28380
GAGATCATGCAGCATCGCTTCTTTGCCGGTATCGTGTGGCAGCACGTGTACGAGAAGAAG c.1260
E I M Q H R F F A G I V W Q H V Y E K K p.420
| 13 . . . . . . g.29957
| CTCAGCCCACCCTTCAAGCCCCAGGTCACGTCGGAGACTGACACCAGGTATTTTGATGAG c.1320
| L S P P F K P Q V T S E T D T R Y F D E p.440
. . . . | 14 . . g.30341
GAGTTCACGGCCCAGATGATCACCATCACACCACCTGACCAAG | ATGACAGCATGGAGTGT c.1380
E F T A Q M I T I T P P D Q D | D S M E C p.460
. . . . . . g.30401
GTGGACAGCGAGCGCAGGCCCCACTTCCCCCAGTTCTCCTACTCGGCCAGCGGCACGGCC c.1440
V D S E R R P H F P Q F S Y S A S G T A p.480
g.30404
TGA c.1443
X p.480
. . . . . . g.30464
ggcggcggtggactgcgctggacgatagcttggagggatggagaggcggcctcgtgccat c.*60
. . . . . . g.30524
gatctgtatttaatggtttttatttctcgggtgcatttgagagaagccacgctgtcctct c.*120
. . . . . . g.30584
cgagcccagatggaaagacgtttttgtgctgtgggcagcaccctcccccgcagcggggta c.*180
. . . . . . g.30644
gggaagaaaactatcctgcgggttttaatttatttcatccagtttgttctccgggtgtgg c.*240
. . . . . . g.30704
cctcagccctcagaacaatccgattcacgtagggaaatgttaaggacttctgcagctatg c.*300
. . . . . . g.30764
cgcaatgtggcattggggggccgggcaggtcctgcccatgtgtcccctcactctgtcagc c.*360
. . . . . . g.30824
cagccgccctgggctgtctgtcaccagctatctgtcatctctctggggccctgggcctca c.*420
. . . . . . g.30884
gttcaacctggtggcaccagatgcaacctcactatggtatgctggccagcaccctctcct c.*480
. . . . . . g.30944
gggggtggcaggcacacagcagccccccagcactaaggccgtgtctctgaggacgtcatc c.*540
. . . . . . g.31004
ggaggctgggcccctgggatgggaccagggatgggggatgggccagggtttacccagtgg c.*600
. . . . . . g.31064
gacagaggagcaaggtttaaatttgttattgtgtattatgttgttcaaatgcattttggg c.*660
. . . . . . g.31124
ggtttttaatctttgtgacaggaaagccctcccccttccccttctgtgtcacagttcttg c.*720
. . . . . . g.31184
gtgactgtcccaccgggagcctccccctcagatgatctctccacggtagcacttgacctt c.*780
. . . . . . g.31244
ttcgacgcttaacctttccgctgtcgccccaggccctccctgactccctgtgggggtggc c.*840
. . . . . . g.31304
catccctgggcccctccacgcctcctggccagacgctgccgctgccgctgcaccacggcg c.*900
. . . . . . g.31364
tttttttacaacattcaactttagtatttttactattataatataatatggaaccttccc c.*960
. . . g.31396
tccaaattcttcaataaaagttgcttttcaaa c.*992
(downstream sequence)
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