(used for variant description)
(last modified June 3, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_002641.3 in the PIGA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009786.1, covering PIGA transcript NM_002641.3.
(upstream sequence)
. . . . . | 02 g.8564
gactccggctgcagccgcgggaggtccggacactggcggccatggaactcaccg | gt c.-61
. . . . . . g.8624
aatagaggacacatctcttaactgggttgctctaagaactgatgtctaaaccgtctcagc c.-1
. . . . . . g.8684
ATGGCCTGTAGAGGAGGAGCTGGGAATGGCCACCGTGCCTCAGCTACACTCTCTCGGGTT c.60
M A C R G G A G N G H R A S A T L S R V p.20
. . . . . . g.8744
AGCCCTGGAAGTCTTTACACATGTAGAACCCGTACCCATAATATATGCATGGTATCTGAC c.120
S P G S L Y T C R T R T H N I C M V S D p.40
. . . . . . g.8804
TTTTTCTACCCAAATATGGGAGGCGTGGAAAGCCACATTTACCAGCTCTCTCAGTGCCTG c.180
F F Y P N M G G V E S H I Y Q L S Q C L p.60
. . . . . . g.8864
ATTGAAAGAGGGCATAAGGTTATAATTGTCACCCATGCTTATGGAAATCGAAAAGGCATC c.240
I E R G H K V I I V T H A Y G N R K G I p.80
. . . . . . g.8924
CGTTACCTCACCAGTGGCCTCAAAGTCTATTACTTGCCTCTGAAAGTCATGTACAACCAG c.300
R Y L T S G L K V Y Y L P L K V M Y N Q p.100
. . . . . . g.8984
TCTACAGCCACGACCCTCTTTCACAGTCTGCCATTGCTCAGGTACATATTTGTTCGGGAG c.360
S T A T T L F H S L P L L R Y I F V R E p.120
. . . . . . g.9044
AGAGTCACGATAATCCATTCACATAGTTCTTTTTCTGCTATGGCCCATGATGCTCTCTTC c.420
R V T I I H S H S S F S A M A H D A L F p.140
. . . . . . g.9104
CACGCCAAGACAATGGGGCTTCAGACAGTCTTCACGGACCATTCCCTTTTTGGATTTGCT c.480
H A K T M G L Q T V F T D H S L F G F A p.160
. . . . . . g.9164
GATGTCAGCTCGGTGCTTACAAACAAGCTTCTAACCGTGTCTCTTTGTGATACAAACCAC c.540
D V S S V L T N K L L T V S L C D T N H p.180
. . . . . . g.9224
ATCATTTGTGTGTCTTATACTAGTAAGGAAAATACTGTACTAAGAGCAGCACTGAATCCT c.600
I I C V S Y T S K E N T V L R A A L N P p.200
. . . . . . g.9284
GAAATAGTGTCCGTCATTCCTAATGCTGTAGATCCTACTGACTTCACTCCAGACCCATTT c.660
E I V S V I P N A V D P T D F T P D P F p.220
. . . . . | 03 . g.14513
AGAAGGCATGATAGTATAACTATTGTTGTTGTCAGCAGACTTGTTTACAGAAAAG | GGATC c.720
R R H D S I T I V V V S R L V Y R K G | I p.240
. . . . . . g.14573
GATTTGCTTAGTGGTATAATACCTGAACTCTGTCAGAAATATCCAGATTTAAATTTCATA c.780
D L L S G I I P E L C Q K Y P D L N F I p.260
. . . . . . g.14633
ATTGGAGGAGAGGGACCAAAGAGAATCATTTTGGAAGAAGTTCGGGAAAGATACCAGCTG c.840
I G G E G P K R I I L E E V R E R Y Q L p.280
| 04 . . . . . g.15454
CATGACAG | GGTGCGTCTTTTGGGAGCTTTAGAACACAAGGATGTTAGAAATGTCTTAGTT c.900
H D R | V R L L G A L E H K D V R N V L V p.300
. . . . . . g.15514
CAAGGACATATTTTTCTGAATACCTCCCTTACTGAAGCATTCTGCATGGCGATCGTGGAA c.960
Q G H I F L N T S L T E A F C M A I V E p.320
. . | 05 . . . . g.15722
GCAGCCAGTTGTGGTTTACAG | GTTGTAAGTACCAGAGTTGGTGGAATTCCTGAGGTGCTT c.1020
A A S C G L Q | V V S T R V G G I P E V L p.340
. . . . . . g.15782
CCAGAAAACCTTATTATTTTATGTGAGCCTTCAGTAAAATCTTTGTGTGAAGGATTGGAA c.1080
P E N L I I L C E P S V K S L C E G L E p.360
. . . . . . g.15842
AAGGCTATTTTCCAACTGAAGTCAGGGACATTGCCAGCTCCAGAAAACATCCATAACATA c.1140
K A I F Q L K S G T L P A P E N I H N I p.380
. . . . | 06 . g.18794
GTAAAGACTTTCTACACCTGGAGGAATGTTGCAGAAAGAACTGAAAAG | GTATATGACCGG c.1200
V K T F Y T W R N V A E R T E K | V Y D R p.400
. . . . . . g.18854
GTATCAGTGGAAGCTGTGTTGCCAATGGACAAACGACTGGACAGACTTATTTCTCACTGC c.1260
V S V E A V L P M D K R L D R L I S H C p.420
. . . . . . g.18914
GGCCCAGTAACAGGCTACATCTTTGCTTTGTTGGCAGTTTTCAACTTCCTCTTCCTCATT c.1320
G P V T G Y I F A L L A V F N F L F L I p.440
. . . . . . g.18974
TTCTTGAGATGGATGACTCCAGATTCTATCATTGATGTTGCAATAGATGCCACTGGGCCA c.1380
F L R W M T P D S I I D V A I D A T G P p.460
. . . . . . g.19034
CGGGGTGCCTGGACTAATAACTATTCTCACAGTAAAAGAGGGGGTGAGAATAATGAGATA c.1440
R G A W T N N Y S H S K R G G E N N E I p.480
. g.19049
TCTGAAACCAGGTAG c.1455
S E T R X p.484
. . . . . . g.19109
aaggaagcctagattgtaagattttaaacatttgtaatagttctataaagactatggaaa c.*60
. . . . . . g.19169
ataaccttgcttttggggggtttttgtttttttagagttaatttagtaagttatgctacc c.*120
. . . . . . g.19229
tctatatcattcaatattttctgttgaggaaagataaaaatgtatgcaattcctgagtgt c.*180
. . . . . . g.19289
agaaacttcttgcacttatttaaaatttaggagagaacatttaagccactcaggtatgca c.*240
. . . . . . g.19349
atttttcagactactgaaatccctgtagcagagatgttttaacattatattttgagagct c.*300
. . . . . . g.19409
ttgggtgctgaagggccaaacgttttctgggcattttttggccagtttttaatgtaacac c.*360
. . . . . . g.19469
cattagacactcaccagatgtttacaagttttctttaggggaactacaacaattatatga c.*420
. . . . . . g.19529
actgttttatatcatgttcatatacatttattaggaatctaaatcatgtctttgaacatt c.*480
. . . . . . g.19589
tattaggttcactcagtaggtgttacatgtaattaacaggttccttgagtaagatagtcc c.*540
. . . . . . g.19649
atcagttaccagcacattttgaacccctgctctgtgtagaatgttgaactagatgcttcc c.*600
. . . . . . g.19709
cgccattaaggaccaggggtgcattcactctttgtttaccattcaaatggcttacttcat c.*660
. . . . . . g.19769
cataattgtggttgatatgagatcaatatccaacatgccaaaaatgctcatgccagttaa c.*720
. . . . . . g.19829
tgccaggaaaaaaatcaccgacacactactagtactttgttcctgttgtatgcattctcc c.*780
. . . . . . g.19889
taggtagagcctccatcttcagttgtgtttgtgaaggtattttttgctttttaaatactg c.*840
. . . . . . g.19949
gggaccgatatcactgttgatagtgcagagaaaccctccacatttttcagtgcataattg c.*900
. . . . . . g.20009
agttttctataaatgccttcgtgttttctgagcagaatgtacgaggtgtgccatcccaaa c.*960
. . . . . . g.20069
accagctgctaccctgtccttttaatgtaagtcactccccttcactgtggcctcgctgat c.*1020
. . . . . . g.20129
gtctgataagtattgtcagtgtgcaaaaggctttacttcagaatggtttatttatagcaa c.*1080
. . . . . . g.20189
actaagttgaaaattttagaaacagtctttgtgggtggatgttattaactgtcattgttg c.*1140
. . . . . . g.20249
ttgcccagagccatgggttttttaaccccaaattatccacatggtgtgtattatgaattc c.*1200
. . . . . . g.20309
tttgaactcttaaggtttttgtgagaaaaggactgtgaattcaaaacaataaggcacttg c.*1260
. . . . . . g.20369
tgggtgcactacatagattctgacagtgttgtgattctgtataggatttttaaaaatgac c.*1320
. . . . . . g.20429
aacattcacaaaatttattactttttaaaaaataacatgcctattaactggttgcactga c.*1380
. . . . . . g.20489
tataaaagaaatatatttgtgttttgtttgtactaaaatgcaaaagcaagagtgcaattt c.*1440
. . . . . . g.20549
ttaaaatctagaagttaggggttttgttggagaaaaatggactgatctttaaactattca c.*1500
. . . . . . g.20609
gtcttactgggatttttatgcatagaaactcacatataaacatgaaataaacagtgccag c.*1560
. . . . . . g.20669
tattcataggaaagtgagaaactgtaatatttggccattattctattcaacaggttttag c.*1620
. . . . . . g.20729
aggcatgccaccattttttccttatatttttgcttaatttttttaaattgtcatttaatt c.*1680
. . . . . . g.20789
cttaaactgtcatttatttgagatggaaataagatctaaagttagttgcctttgcctgta c.*1740
. . . . . . g.20849
aaacatgtgatttgcaaattattatttttcttttttttaacaaatggaagtaaatttgtt c.*1800
. . . . . . g.20909
tcacgtaaatcttaattttcaacctttctggataccttaattgtaactgtcagtttgcac c.*1860
. . . . . . g.20969
tggtcggtatatggaaacacattgctctaccctgctacttagttgattttaaagtgaatt c.*1920
. . . . . . g.21029
tacagtgatgagaaatttgtgaaaaatatattgtatttcttttgatgtttcaaaaggttg c.*1980
. . . . . . g.21089
cctatgaaaaactgatttgttaaaacatgctacatgtccaaaaataaagaccagaatgac c.*2040
. g.21104
attttgataattttc c.*2055
(downstream sequence)
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