(used for variant description)
(last modified October 16, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002730.3 in the PRKACA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029699.1, covering PRKACA transcript NM_002730.3.
(upstream sequence)
. . g.5020
gatcttgggctgaggttccc c.-181
. . . . . . g.5080
gggcgggcgggcgcggagagacgcgggaagcaggggctgggcgggggtcgcggcgccgca c.-121
. . . . . . g.5140
gctagcgcagccagcccgagggccgccgccgccgccgcccagcgcgctccggggccgccg c.-61
. . . . . . g.5200
gccgcagccagcacccgccgcgccgcagctccgggaccggccccggccgccgccgccgcg c.-1
. . . . | 02 . . g.15352
ATGGGCAACGCCGCCGCCGCCAAGAAGGGCAGCGAGCAGGAGAGCG | TGAAAGAATTCTTA c.60
M G N A A A A K K G S E Q E S V | K E F L p.20
. . . . | 03 . g.15871
GCCAAAGCCAAAGAAGATTTTCTTAAAAAATGGGAAAGTCCCGCTCAG | AACACAGCCCAC c.120
A K A K E D F L K K W E S P A Q | N T A H p.40
. . . . . . g.15931
TTGGATCAGTTTGAACGAATCAAGACCCTCGGCACGGGCTCCTTCGGGCGGGTGATGCTG c.180
L D Q F E R I K T L G T G S F G R V M L p.60
. . . . . | 04. g.19836
GTGAAACACAAGGAGACCGGGAACCACTATGCCATGAAGATCCTCGACAAACAGAAG | GTG c.240
V K H K E T G N H Y A M K I L D K Q K | V p.80
. . . . . . g.19896
GTGAAACTGAAACAGATCGAACACACCCTGAATGAAAAGCGCATCCTGCAAGCTGTCAAC c.300
V K L K Q I E H T L N E K R I L Q A V N p.100
. . . | 05 . . . g.21863
TTTCCGTTCCTCGTCAAACTCGAGTTCTCCTTCAAG | GACAACTCAAACTTATACATGGTC c.360
F P F L V K L E F S F K | D N S N L Y M V p.120
. . . . . | 06 g.24858
ATGGAGTACGTGCCCGGCGGGGAGATGTTCTCACACCTACGGCGGATCGGAAGGTTCAG | T c.420
M E Y V P G G E M F S H L R R I G R F S | p.140
. . . . . . g.24918
GAGCCCCATGCCCGTTTCTACGCGGCCCAGATCGTCCTGACCTTTGAGTATCTGCACTCG c.480
E P H A R F Y A A Q I V L T F E Y L H S p.160
. . . . . . g.24978
CTGGATCTCATCTACAGGGACCTGAAGCCGGAGAATCTGCTCATTGACCAGCAGGGCTAC c.540
L D L I Y R D L K P E N L L I D Q Q G Y p.180
| 07 . . . . . . g.25127
ATTCAG | GTGACAGACTTCGGTTTCGCCAAGCGCGTGAAGGGCCGCACTTGGACCTTGTGC c.600
I Q | V T D F G F A K R V K G R T W T L C p.200
. . . . | 08 . . g.25282
GGCACCCCTGAGTACCTGGCCCCTGAGATTATCCTGAGCAAA | GGCTACAACAAGGCCGTG c.660
G T P E Y L A P E I I L S K | G Y N K A V p.220
. . . . . . g.25342
GACTGGTGGGCCCTGGGGGTTCTTATCTATGAAATGGCCGCTGGCTACCCGCCCTTCTTC c.720
D W W A L G V L I Y E M A A G Y P P F F p.240
. . . . | 09 . . g.28970
GCAGACCAGCCCATCCAGATCTATGAGAAGATCGTCTCTGGGAAG | GTGCGCTTCCCTTCC c.780
A D Q P I Q I Y E K I V S G K | V R F P S p.260
. . . . . . g.29030
CACTTCAGCTCTGACTTGAAGGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG c.840
H F S S D L K D L L R N L L Q V D L T K p.280
. . . . . . g.29090
CGCTTTGGGAACCTCAAGAATGGGGTCAACGATATCAAGAACCACAAGTGGTTTGCCACA c.900
R F G N L K N G V N D I K N H K W F A T p.300
. . . | 10 . . . g.29540
ACTGACTGGATTGCCATCTACCAGAGGAAG | GTGGAAGCTCCCTTCATACCAAAGTTTAAA c.960
T D W I A I Y Q R K | V E A P F I P K F K p.320
. . . . . . g.29600
GGCCCTGGGGATACGAGTAACTTTGACGACTATGAGGAAGAAGAAATCCGGGTCTCCATC c.1020
G P G D T S N F D D Y E E E E I R V S I p.340
. . . g.29636
AATGAGAAGTGTGGCAAGGAGTTTTCTGAGTTTTAG c.1056
N E K C G K E F S E F X p.351
. . . . . . g.29696
gggcatgcctgtgcccccatgggttttcttttttcttttttcttttttttggtcgggggg c.*60
. . . . . . g.29756
gtgggagggttggattgaacagccagagggccccagagttccttgcatctaatttcaccc c.*120
. . . . . . g.29816
ccaccccaccctccagggttagggggagcaggaagcccagataatcagagggacagaaac c.*180
. . . . . . g.29876
accagctgctccccctcatccccttcaccctcctgccccctctcccacttttcccttcct c.*240
. . . . . . g.29936
ctttccccacagccccccagcccctcagccctcccagcccacttctgcctgttttaaacg c.*300
. . . . . . g.29996
agtttctcaactccagtcagaccaggtcttgctggtgtatccagggacagggtatggaaa c.*360
. . . . . . g.30056
gaggggctcacgcttaactccagcccccacccacacccccatcccacccaaccacaggcc c.*420
. . . . . . g.30116
ccacttgctaagggcaaatgaacgaagcgccaaccttcctttcggagtaatcctgcctgg c.*480
. . . . . . g.30176
gaaggagagatttttagtgacatgttcagtgggttgcttgctagaatttttttaaaaaaa c.*540
. . . . . . g.30236
caacaatttaaaatcttatttaagttccaccagtgcctccctccctccttcctctactcc c.*600
. . . . . . g.30296
cacccctcccatgtccccccattcctcaaatccattttaaagagaagcagactgactttg c.*660
. . . . . . g.30356
gaaagggaggcgctggggtttgaacctccccgctgctaatctcccctgggcccctccccg c.*720
. . . . . . g.30416
gggaatcctctctgccaatcctgcgagggtctaggcccctttaggaagcctccgctctct c.*780
. . . . . . g.30476
ttttccccaacagacctgtcttcacccttgggctttgaaagccagacaaagcagctgccc c.*840
. . . . . . g.30536
ctctccctgccaaagaggagtcatcccccaaaaagacagagggggagccccaagcccaag c.*900
. . . . . . g.30596
tctttcctcccagcagcgtttccccccaactccttaattttattctccgctagattttaa c.*960
. . . . . . g.30656
cgtccagccttccctcagctgagtggggagggcatccctgcaaaagggaacagaagaggc c.*1020
. . . . . . g.30716
caagtccccccaagccacggcccggggttcaaggctagagctgctggggaggggctgcct c.*1080
. . . . . . g.30776
gttttactcacccaccagcttccgcctcccccatcctgggcgcccctcctccagcttagc c.*1140
. . . . . . g.30836
tgtcagctgtccatcacctctcccccactttctcatttgtgcttttttctctcgtaatag c.*1200
. . . . . . g.30896
aaaagtggggagccgctggggagccaccccattcatccccgtatttccccctctcataac c.*1260
. . . . . . g.30956
ttctccccatcccaggaggagttctcaggcctggggtggggccccgggtgggtgcggggg c.*1320
. . . . . . g.31016
cgattcaacctgtgtgctgcgaaggacgagacttcctcttgaacagtgtgctgttgtaaa c.*1380
. . . . g.31060
catatttgaaaactattaccaataaagttttgtttaaaaaaaaa c.*1424
(downstream sequence)
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