(used for variant description)
(last modified March 2, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000151.3 in the G6PC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011808.1, covering G6PC transcript NM_000151.3.
(upstream sequence)
. . g.5020
atagcagagcaatcaccacc c.-61
. . . . . . g.5080
aagcctggaataactgcaagggctctgctgacatcttcctgaggtgccaaggaaatgagg c.-1
. . . . . . g.5140
ATGGAGGAAGGAATGAATGTTCTCCATGACTTTGGGATCCAGTCAACACATTACCTCCAG c.60
M E E G M N V L H D F G I Q S T H Y L Q p.20
. . . . . . g.5200
GTGAATTACCAAGACTCCCAGGACTGGTTCATCTTGGTGTCCGTGATCGCAGACCTCAGG c.120
V N Y Q D S Q D W F I L V S V I A D L R p.40
. . . . . . g.5260
AATGCCTTCTACGTCCTCTTCCCCATCTGGTTCCATCTTCAGGAAGCTGTGGGCATTAAA c.180
N A F Y V L F P I W F H L Q E A V G I K p.60
. . . . . | 02 . g.8144
CTCCTTTGGGTAGCTGTGATTGGAGACTGGCTCAACCTCGTCTTTAAGTG | GATTCTCTTT c.240
L L W V A V I G D W L N L V F K W | I L F p.80
. . . . . . g.8204
GGACAGCGTCCATACTGGTGGGTTTTGGATACTGACTACTACAGCAACACTTCCGTGCCC c.300
G Q R P Y W W V L D T D Y Y S N T S V P p.100
. . . . | 03 . . g.11746
CTGATAAAGCAGTTCCCTGTAACCTGTGAGACTGGACCAG | GGAGCCCCTCTGGCCATGCC c.360
L I K Q F P V T C E T G P G | S P S G H A p.120
. . . . . . g.11806
ATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGA c.420
M G T A G V Y Y V M V T S T L S I F Q G p.140
. . | 04 . . . . g.13540
AAGATAAAGCCGACCTACAGATTTCG | GTGCTTGAATGTCATTTTGTGGTTGGGATTCTGG c.480
K I K P T Y R F R | C L N V I L W L G F W p.160
. . . . . . g.13600
GCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAA c.540
A V Q L N V C L S R I Y L A A H F P H Q p.180
. . | 05 . . . . g.15156
GTTGTTGCTGGAGTCCTGTCAG | GCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGC c.600
V V A G V L S G | I A V A E T F S H I H S p.200
. . . . . . g.15216
ATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCC c.660
I Y N A S L K K Y F L I T F F L F S F A p.220
. . . . . . g.15276
ATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAA c.720
I G F Y L L L K G L G V D L L W T L E K p.240
. . . . . . g.15336
GCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGC c.780
A Q R W C E Q P E W V H I D T T P F A S p.260
. . . . . . g.15396
CTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTAC c.840
L L K N L G T L F G L G L A L N S S M Y p.280
. . . . . . g.15456
AGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTA c.900
R E S C K G K L S K W L P F R L S S I V p.300
. . . . . . g.15516
GCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTG c.960
A S L V L L H V F D S L K P P S Q V E L p.320
. . . . . . g.15576
GTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTC c.1020
V F Y V L S F C K S A V V P L A S V S V p.340
. . . . . g.15630
ATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTAA c.1074
I P Y C L A Q V L G Q P H K K S L X p.357
. . . . . . g.15690
gagatgtggagtcttcggtgtttaaagtcaacaaccatgccagggattgaggaggactac c.*60
. . . . . . g.15750
tatttgaagcaatgggcactggtatttggagcaagtgacatgccatccattctgccgtcg c.*120
. . . . . . g.15810
tggaattaaatcacggatggcagattggagggtcgcctggcttattcccatgtgtgactc c.*180
. . . . . . g.15870
cagcctgccctcagcacagactctttcagatggaggtgccatatcacgtacaccatatgc c.*240
. . . . . . g.15930
aagtttcccgccaggaggtcctcctctctctacttgaatactctcacaagtagggagctc c.*300
. . . . . . g.15990
actcccactggaacagcccattttatctttgaatggtcttctgccagcccattttgaggc c.*360
. . . . . . g.16050
cagaggtgctgtcagctcaggtggtcctcttttacaatcctaatcatattgggtaatgtt c.*420
. . . . . . g.16110
tttgaaaagctaatgaagctattgagaaagacctgttgctagaagttgggttgttctgga c.*480
. . . . . . g.16170
ttttcccctgaagacttacttattcttccgtcacatatacaaaagcaagacttccaggta c.*540
. . . . . . g.16230
gggccagctcacaagcccaggctggagatcctaactgagaattttctacctgtgttcatt c.*600
. . . . . . g.16290
cttaccgagaaaaggagaaaggagctctgaatctgataggaaaagaaggctgcctaagga c.*660
. . . . . . g.16350
ggagtttttagtatgtggcgtatcatgcaagtgctatgccaagccatgtctaaatggctt c.*720
. . . . . . g.16410
taattatatagtaatgcactctcagtaatgggggaccagcttaagtataattaatagatg c.*780
. . . . . . g.16470
gttagtggggtaattctgcttctagtattttttttactgtgcatacatgttcatcgtatt c.*840
. . . . . . g.16530
tccttggatttctgaatggctgcagtgacccagatattgcactaggtcaaaacattcagg c.*900
. . . . . . g.16590
tatagctgacatctcctctatcacattacatcatcctccttataagcccagctctgcttt c.*960
. . . . . . g.16650
ttccagattcttccactggctccacatccaccccactggatcttcagaaggctagagggc c.*1020
. . . . . . g.16710
gactctggtggtgcttttgtatgtttcaattaggctctgaaatcttgggcaaaatgacaa c.*1080
. . . . . . g.16770
ggggagggccaggattcctctctcaggtcactccagtgttacttttaattcctagagggt c.*1140
. . . . . . g.16830
aaatatgactcctttctctatcccaagccaaccaagagcacattcttaaaggaaaagtca c.*1200
. . . . . . g.16890
acatcttctctctttttttttttttttgagacagggtctcactatgttgcccaggctgct c.*1260
. . . . . . g.16950
cttgaattcctgggctcaagcagtcctcccaccctaccacagcgtcccgcgtagctggga c.*1320
. . . . . . g.17010
ctacaggtgcaagccactatgtccagctagccaactcctccttgcctgcttttctttttt c.*1380
. . . . . . g.17070
tttctttttttgagacggcgcacctatcacccaggctggagtggagtggcacgatcttgg c.*1440
. . . . . . g.17130
ctcactgcaacctcttcctcctggttcaagcgattctcatgtctcagcctcctcagtagc c.*1500
. . . . . . g.17190
taggactaccggcgtgcaccaccatgccaggctaatttttatatttttagaattttagaa c.*1560
. . . . . . g.17250
gagatgggatttcatcatgttggccaggctggtctcgaactcctgacctcaagtgatcca c.*1620
. . . . . . g.17310
cctgccttggcctcccaaggtgctaggattacaggcatgagccaccgcaccgggccctcc c.*1680
. . . . . . g.17370
ttgcctgtttttcaatctcatctgatatgcagagtatttctgccccacccacctaccccc c.*1740
. . . . . . g.17430
caaaaaaagctgaagcctatttatttgaaagtccttgtttttgctactaattatatagta c.*1800
. . . . . . g.17490
taccatacattatcattcaaaacaaccatcctgctcataacatctttgaaaagaaaaata c.*1860
. . . . . . g.17550
tatatgtgcagtattttattaaagcaacattttatttaagaataaagtcttgttaattac c.*1920
. . . . . . g.17610
tatattttagatgcaatgtgatctgaagtttctaattctggcccaactaaatttctagct c.*1980
. . . . . . g.17670
ctgtttccctaaacaaataatttggtttctctgtgcctgcattttccctttggagaagaa c.*2040
. . . . . . g.17730
aagtgctctctcttgagttgaccgagagtcccattagggatagggagacttaaatgcatc c.*2100
. . . . . . g.17790
cacaggggcacaggcagagttgagcacataaacggaggcccaaaatcagcatagaaccag c.*2160
. . . . . . g.17850
aaagattcagagttggccaagaatgaacattggctaccagaccacaagtcagcatgagtt c.*2220
. . . . . . g.17910
gctctatggcatcaaattgcaacttgagagtagatgggcagggtcactatcaaattaagc c.*2280
. . . . . . g.17970
aatcagggcacacaagttgcagtaacacaacaagactaggccagctctggaatccagtaa c.*2340
. . . . . . g.18030
ctcagtgtcagcaaggttttgggttatagttcaagaaagtctaaacagagccagtcacag c.*2400
. . . . . . g.18090
caccaaggaatgctcaagggagctattgcaggtttctctgctaagagatttatttcatcc c.*2460
. . . . . . g.18150
tgggtgcagggttcgacctccaaaggcctcaaatcatcaccgtatcaatggatttcctga c.*2520
. . . . . . g.18210
gggtaagctccgctatttcacacctgaactccggagtctgtatattcagggaagattgca c.*2580
. . . . . . g.18270
ttctcctactggatttgggctctcagagggcgttgtgggaaccaggcccctcacagaatc c.*2640
. . . . . . g.18330
aaatggtcccaaccagggagaaagaaaatagtcttttttttttttttaatagagatgggg c.*2700
. . . . . . g.18390
gtctcactatgctgcccaggctggtcttgaactcctgggttcaagtgatcctcctgcctc c.*2760
. . . . . . g.18450
agcctcccaaagtgctgggattacagtgtgagccactgcgcttggccagaaatggttttg c.*2820
. . . . . . g.18510
atctgtctgaactgaaccctactgcttaggcatagccccatccttgataatctatttgct c.*2880
. . . . . . g.18570
cccaaggaccaagtccaagatccttacaagaaaggtctgccagaaagtaaatactgcccc c.*2940
. . . . . . g.18630
cactccctgaagtttatgaggttgataagaaaacataacagataaagtttattgagtgct c.*3000
g.18637
aacttta c.*3007
(downstream sequence)
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