(used for variant description)
(last modified December 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005465.4 in the AKT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering AKT3 transcript NM_005465.4.
(upstream sequence)
. . . . . g.5354
gctgagtcatcactagagagtgggaagggcagcagcagcagagaatccaaac c.-61
. . . . . . g.5414
cctaaagctgatatcacaaagtaccatttctccaagttgggggctcagaggggagtcatc c.-1
. . . . | 02 . . g.152882
ATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG | GAGAATATATAAAA c.60
M S D V T I V K E G W V Q K R G | E Y I K p.20
. . . . . . g.152942
AACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAG c.120
N W R P R Y F L L K T D G S F I G Y K E p.40
. . . . . | 03 . g.183709
AAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA | AATGCCAG c.180
K P Q D V D L P Y P L N N F S V A K | C Q p.60
. . . . . . g.183769
TTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACT c.240
L M K T E R P K P N T F I I R C L Q W T p.80
. . . . | 04 . . g.202563
ACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAG | GGAAGAATGGACAGAA c.300
T V I E R T F H V D T P E E R | E E W T E p.100
. . . . . . g.202623
GCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAGAGGAGAGAATGAATTGTAGT c.360
A I Q A V A D R L Q R Q E E E R M N C S p.120
. . . . . . g.202683
CCAACTTCACAAATTGATAATATAGGAGAGGAAGAGATGGATGCCTCTACAACCCATCAT c.420
P T S Q I D N I G E E E M D A S T T H H p.140
| 05 . . . . . g.210893
AAAAGAAAG | ACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGG c.480
K R K | T M N D F D Y L K L L G K G T F G p.160
. . . . . . g.210953
AAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAG c.540
K V I L V R E K A S G K Y Y A M K I L K p.180
. . | 06 . . . . g.233462
AAAGAAGTCATTATTGCAAAG | GATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTA c.600
K E V I I A K | D E V A H T L T E S R V L p.200
. . | 07. . . . g.234878
AAGAACACTAGACATCCCTTTTTAACA | TCCTTGAAATATTCCTTCCAGACAAAAGACCGT c.660
K N T R H P F L T | S L K Y S F Q T K D R p.220
. . . | 08 . . . g.275560
TTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG | CTGTTTTTCCATTTGTCGAGAGAG c.720
L C F V M E Y V N G G E | L F F H L S R E p.240
. . . . . . g.275620
CGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGAC c.780
R V F S E D R T R F Y G A E I V S A L D p.260
. . . | 09 . . g.284757
TATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAG | TTGGAGAATCTAATGCTGGAC c.840
Y L H S G K I V Y R D L K | L E N L M L D p.280
. . . . . . g.284817
AAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGATCACAGATGCA c.900
K D G H I K I T D F G L C K E G I T D A p.300
. . . . | 10 . g.295653
GCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAG | GTGTTAGAAGAT c.960
A T M K T F C G T P E Y L A P E | V L E D p.320
. . . . . . g.295713
AATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATG c.1020
N D Y G R A V D W W G L G V V M Y E M M p.340
. . . . . . g.295773
TGTGGGAGGTTACCTTTCTACAACCAGGACCATGAGAAACTTTTTGAATTAATATTAATG c.1080
C G R L P F Y N Q D H E K L F E L I L M p.360
. . . . . . g.295833
GAAGACATTAAATTTCCTCGAACACTCTCTTCAGATGCAAAATCATTGCTTTCAGGGCTC c.1140
E D I K F P R T L S S D A K S L L S G L p.380
. . | 11 . . . . g.303024
TTGATAAAGGATCCAAATAAACG | CCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATG c.1200
L I K D P N K R | L G G G P D D A K E I M p.400
. . . . . | 12 . g.336167
AGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAG | CTTGTACCT c.1260
R H S F F S G V N W Q D V Y D K K | L V P p.420
. . . . . . g.336227
CCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACA c.1320
P F K P Q V T S E T D T R Y F D E E F T p.440
. . . | 13 . . . g.343276
GCTCAGACTATTACAATAACACCACCTGAAAAAT | ATGATGAGGATGGTATGGACTGCATG c.1380
A Q T I T I T P P E K Y | D E D G M D C M p.460
. . . . . . g.343336
GACAATGAGAGGCGGCCGCATTTCCCTCAATTTTCCTACTCTGCAAGTGGACGAGAATAA c.1440
D N E R R P H F P Q F S Y S A S G R E X p.479
. . . . . . g.343396
gtctctttcattctgctacttcactgtcatcttcaatttattactgaaaatgattcctgg c.*60
. . . . . . g.343456
acatcaccagtcctagctcttacacatagcaggggcaccttccgacatcccagaccagcc c.*120
. . . . . . g.343516
aagggtcctcacccctcgccacctttcaccctcatgaaaacacacatacacgcaaataca c.*180
. . . . . . g.343576
ctccagtttttgtttttgcatgaaattgtatctcagtctaaggtctcatgctgttgctgc c.*240
. . . . . . g.343636
tactgtcttactattatagcaactttaagaagtaattttccaacctttggaagtcatgag c.*300
. . . . . . g.343696
cccaccattgttcatttgtgcaccaattatcatcttttgatcttttagtttttccctcag c.*360
. . . . . . g.343756
tgaaggctaaatgagatacactgattctaggtacattttttaactttctagaagagaaaa c.*420
. . . . . . g.343816
actaactagactaagaagatttagtttataaattcagaacaagcaattgtggaagggtgg c.*480
. . . . . . g.343876
tggcgtgcatatgtaaagcacatcagatccgtgcgtgaagtaggcatatatcactaagct c.*540
. . . . . . g.343936
gtggctggaattgattaggaagcatttggtagaaggactgaacaactgttgggatatata c.*600
. . . . . . g.343996
tatatatatataattttttttttttaaattcctggtggatactgtagaagaagcccatat c.*660
. . . . . . g.344056
cacatgtggatgtcgagacttcacgggcaatcatgagcaagtgaacactgttctaccaag c.*720
. . . . . . g.344116
aactgaaggcatatgcacagtcaaggtcacttaaagggtcttatgaaacaatttgagcca c.*780
. . . . . . g.344176
gagagcatctttcccctgtgcttggaaaccttttttccttcttgacatttatcacctctg c.*840
. . . . . . g.344236
atggctgaagaatgtagacaggtataatgatactgcttttcaccaaaatttctacaccaa c.*900
. . . . . . g.344296
ggtaaacaggtgtttgccttatttaattttttactttcagttctacgtgaattagctttt c.*960
. . . . . . g.344356
tctcagatgttgaaactttgaatgtccttttatgattttgtttatattgcagtagtattt c.*1020
. . . . . . g.344416
attttttagtgatgagaattgtatgtcatgttagcaaacgcagctccaacttatataaaa c.*1080
. . . . . . g.344476
tagacttactgcagttacttttgacccatgtgcaaggattgtacacgctgatgagaatca c.*1140
. . . . . . g.344536
tgcactttttctcctctgttaaaaaaaatgataaggctctgaaatggaatatattggtta c.*1200
. . . . . . g.344596
gaatttggctttgggagaagagatgctgccatttaaccccttggtactgaaaatgagaaa c.*1260
. . . . . . g.344656
atccccaactatgcatgccaaggggttaatgaaacaaatagctgttgacgtttgctcatt c.*1320
. . . . . . g.344716
taagaatttgaaacgttatgatgacctggcaacaaaaagtaatgaagaaaattgagacct c.*1380
. . . . . . g.344776
gagtgaagataagaaatgatctttacgtggcaaaatgaacacatcttgagtatttaggaa c.*1440
. . . . . . g.344836
atgggcagtgaaggctaagaacctggtgtgtttcttgggatcatggtacatttatcactg c.*1500
. . . . . . g.344896
aattaagccatcagggaaaaaacaacaaaaaaagagaacacctccagcttttctttttct c.*1560
. . . . . . g.344956
gtatatactcatgtcccccagattccaacatttctcactgaaagggggcatgtatgcaaa c.*1620
. . . . . . g.345016
cctcatctttctccttcattaatgatgatcttcagattaaaccctttggtgctaggagct c.*1680
. . . . . . g.345076
gacaatttccaaagcagcctgtgaagtcctaggggctgggggccactcttgcggcaagca c.*1740
. . . . . . g.345136
gaaggccatcctactccgcggagtgatcatggaaatgtattttagttaaactctgacagc c.*1800
. . . . . . g.345196
tcccaaacggaagactacagcatgacgtagtattatgattgcattgtatgaaagagcaag c.*1860
. . . . . . g.345256
tgactttctaagtaggatgaatcatattcatatgcagatgtcttagcctcttgacgctgg c.*1920
. . . . . . g.345316
aagtgtggatttatagctatgaaaccactgctggcagtgggtgggccactgggactgacg c.*1980
. . . . . . g.345376
ggggttaaagggcattttactaaggcagctaagacatattcagacatcaacgttatcctt c.*2040
. . . . . . g.345436
ctttttcatatttctacctgagtgaagttcatccttagtattgagtaggaagttacagta c.*2100
. . . . . . g.345496
aatggtagttcattcttacttacacacatagctaatcttttttttttcacttggaattat c.*2160
. . . . . . g.345556
gttgaatgtttcattttgacaaaaaagtagactagaaggtatgttctttaagttgtcttg c.*2220
. . . . . . g.345616
catccattatataagaaagaaacaggtgagaggaagagcagaaagctgagactggctgat c.*2280
. . . . . . g.345676
gttcagagcacttactcctctagagggaaagcatgacaccgaacactaagcacacagctt c.*2340
. . . . . . g.345736
tttgttgttttggttttttctcccgcaaatcttaaagtgattcccatgaccttggccaag c.*2400
. . . . . . g.345796
gacacttcttaaagattaatgactggcactgacattgccccaggcgggccactcctcaca c.*2460
. . . . . . g.345856
ctggctctcagttcccagccatgcctggggctcagtcacttctattccaccctctgagac c.*2520
. . . . . . g.345916
tccattggtgtcacacaaggtgtcttcttggctttgattttgagaatcccctattttcac c.*2580
. . . . . . g.345976
ttccagatctgtcagctgccatggaggaataatagaaaaccagaaatgcgtgtagaggga c.*2640
. . . . . . g.346036
gatttctaaaacttcccttgtgtcgcccatagttgtagttttgggttctggcaggtggaa c.*2700
. . . . . . g.346096
caccctgaaacctggaatcattctatgagaatacagttcagactttgcagactccagccc c.*2760
. . . . . . g.346156
atactaactgtcatgaagcttgacttcttgtcataatgcagccatcttggaggaaattgg c.*2820
. . . . . . g.346216
ccatttctgcttagatggttggcagggtcgcgctcagctttgctttctacactaattaca c.*2880
. . . . . . g.346276
tagcattattcaagtattgttttccatttcccatccctgatttccagcttcttaaagctg c.*2940
. . . . . . g.346336
actgttcttgcaggggccacttgcttctcctagagtacaaaagtaagggccttccttact c.*3000
. . . . . . g.346396
aactgcagggtctctctattacacctcaacatacacactttgctgctactgtttgtactg c.*3060
. . . . . . g.346456
tctacagtagaatttccttatcttgctcctggtagtgcattacaggcaagcatgaaatgt c.*3120
. . . . . . g.346516
aaagtatttatttaaataaaaagaaaacctctaaattggtaattgaattacctccctgta c.*3180
. . . . . . g.346576
gctttatagtttgtgacatttcttgaccttgctagttctttcattagatctgcgcaagat c.*3240
. . . . . . g.346636
ctagtcatctggttaaggattttaagcagatgcaactataaacccaagaaactgtattac c.*3300
. . . . . . g.346696
tattactgttggtcatactaaacctgtctatttcctgaagtatatgacccacaaggatgt c.*3360
. . . . . . g.346756
ggaataactaggagaaactgtttttgtacactgtacatccttagtatttttacacgtata c.*3420
. . . . . . g.346816
tgatagggatgaacatgattttccttcgtacagacagcttaaataaagcactatgtcaat c.*3480
. . . . . . g.346876
ctgctacttctctgtttattgttgttggatgtggttctataatccccccaaattaaatct c.*3540
. . . . . . g.346936
tctttaatgaaaacatgatttttaatagccccagctggtattaacctaccttgtataaaa c.*3600
. . . . . . g.346996
tgtgacaggaaaatatagaaataattccttgtagctcacacacacacacataggggatca c.*3660
. . . . . . g.347056
tttttacttcagtgaaatggcagtagtgcggttgtgcaaactttgatgaacggctgcttc c.*3720
. . . . . . g.347116
tgaggggaaacgctgacctctcagcactggatttaggatggatgtactgtgaagccaggg c.*3780
. . . . . . g.347176
atgaaggaggtctcagaccctggggacattcagacccgaatcatctatacaacacacggt c.*3840
. . . . . . g.347236
ttggacccagaatctgaaggaatgtagcttttcattaacgtcttcctgataatgtactgc c.*3900
. . . . . . g.347296
tctgcatatttcctttcttagagtgtatttctaacaacatgtcatggcaaattaacaaac c.*3960
. . . . . . g.347356
ttagacgtgggtgatgtagatgggtaggatggctggactgcagtctgacttcacgttgaa c.*4020
. . . . . . g.347416
tcattctggatggggcctttttctgattttacctcataaagctactattgtagaaacttg c.*4080
. . . . . . g.347476
gctttgctcctgtgacgaagccagacagaggaatggcttttgggaccagagtgagtcaag c.*4140
. . . . . . g.347536
catgtatgtgtatgtcacacggccaaatttgagggcattctcacatgtgctcttctctca c.*4200
. . . . . . g.347596
aaaccactggggttgacagatccaggaggctaaaaaaaagtgacctctataattctttaa c.*4260
. . . . . . g.347656
aggtgctatttttagaatattgtataatttattcacagtatatctaaaacagaattaagg c.*4320
. . . . . . g.347716
acaattaaaatatcttatgtgacagcctttatgtctagcacatttgatgaaataaaaaac c.*4380
. . . . . . g.347776
ttctgaatctgaatagaagttctactgtttcaggcttgaaccttttacatgctcaagaga c.*4440
. . . . . . g.347836
ttcaaatggtctctgtgtgtagatcatgccaccgcctccaaagcctaatccacatcactt c.*4500
. . . . . . g.347896
ctgagaggcaaggctgagcatatggtgacatcagctctgtgttgagatggtgatgaggat c.*4560
. . . . . . g.347956
gatggctcgctggccaggcagggcagccgaaggtcagggacctgtcctaactaactgcag c.*4620
. . . . . . g.348016
ccttgcctttagtgtttgtcattctcagatacaacacggtatgtccagtgtccgttttta c.*4680
. . . . . . g.348076
ttactttaaagcatttgagggcttaattgtgtatagtagaaatactattttagacaaata c.*4740
. . . . . . g.348136
attatctgtgtacagatatttgatatactctaagtaaattttctaatttcactaagtacg c.*4800
. . . . . . g.348196
tttttaggctcctctcaaatactgcgtattgaagaaaaaaatctgacaccaccgagccaa c.*4860
. . . . . . g.348256
agatgcttttttgtctgttttcgttgtttaacagaatggaaagagtaatgcatagtgctt c.*4920
. . . . . . g.348316
cctggtgtctcctgattgattgattgtgcacaaagtaggacgataaataaataaaatgga c.*4980
. . . . . . g.348376
gtctgatgggacattgattaaaggtgaaggatgattgatatatagatcatgaaaagaaaa c.*5040
. . . . . . g.348436
atgaatggcaggaaaaaaagtttggtccttaatatactttggcctagttaaaatatgtgc c.*5100
. . . . . . g.348496
ctttttggtgtgttttgttcatcactacaagataaaaaggaaacattacaactcaagtct c.*5160
. . . . . . g.348556
ttaaaaagttcatttattgaaaatcatatgtataacctagcatacgaatgagcagattta c.*5220
. . . . . . g.348616
aacacataacttcaagccatttctgaaaacatacaccaggagctctgctcagctagagtc c.*5280
. . . . . . g.348676
agactccagctccagcccgactgcgtgcggggacagcgcccgcgttgatgaggaccagcc c.*5340
. . . . . . g.348736
ccactgcaggctgaggcggtgtcaccctgggaaggtcgtggtgcgttgtggcatattaag c.*5400
. . . . . . g.348796
tctaaaccagatgaatgtaaatatctctttgtaaatcatttatttcactctgttccatcc c.*5460
. . . . . . g.348856
aggtcagcaatcagattgtggcatgctgggtaactggaaaaaataataaaaagtaagttt c.*5520
. g.348866
caatagctca c.*5530
(downstream sequence)
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