(used for variant description)
(last modified November 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_022051.2 in the EGLN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015865.1, covering EGLN1 transcript NM_022051.2.
(upstream sequence)
. . . g.5036
ttaggggcagaaaaacatttgtaataattaatggct c.-3121
. . . . . . g.5096
ttgagagacacaaggctttgtttgccccagagtattagttaacccacctagtgctcctaa c.-3061
. . . . . . g.5156
tcatacaatattaaggattgggagggacattcattgcctcactctctatttgtttcacct c.-3001
. . . . . . g.5216
tctgtaaaattggtagaataatagtacccacttcatagcattgtatgatgattaaattgg c.-2941
. . . . . . g.5276
ttaatatttttaaaatgcttagaacacagattgggcacataacagcaagcaccacatgtg c.-2881
. . . . . . g.5336
tttataagataaattcctttgtgttgccttccgttaaagtttaaataagtaaataaataa c.-2821
. . . . . . g.5396
ataaatacttgcatgacattttgaagtctctctataacatctgagtaagtggcggctgcg c.-2761
. . . . . . g.5456
acaatgctactggagttccagaatcgtgttggtgacaagattgttcaccagcatatggtg c.-2701
. . . . . . g.5516
tggtgaaaactcactaatttggaattagttcagattattaagcctgaataggtgaaaatc c.-2641
. . . . . . g.5576
ctgaaatcaaggatctttggaactatttgaaatcagtattttatattttcctgttgtatt c.-2581
. . . . . . g.5636
cattaaagtgttgcaagtgttctatttgatggattaagtatatttaggatatacatgttc c.-2521
. . . . . . g.5696
aatttgtgattttgtatacttaattggaacaagaaagctaataaaggttttgatatggac c.-2461
. . . . . . g.5756
atctattcttttaagtaaacttcaatgaaaatatatgagtagagcatatagagatgtaaa c.-2401
. . . . . . g.5816
taatttgtggacacaccacagactgaaatagcaaatttaaaagaaattgttggaagaatc c.-2341
. . . . . . g.5876
aagtgtttgtggaatgagtcctcctagtaaagttcctgctcttgtgaataattaagcctc c.-2281
. . . . . . g.5936
atgtataattactatagcaaaaggaagcctaagaagtattagactctacttgtatttaaa c.-2221
. . . . . . g.5996
ttacattttacataatttatgtgtatgaaaaatgttttaaatgcttattttcgtaagcca c.-2161
. . . . . . g.6056
tgagatagctcctttatattttaagaatttctgaattaatttgcttggattttattagtg c.-2101
. . . . . . g.6116
caaatggcagagctagcaattcctttttctgtgttcccattccatcctattcatccctct c.-2041
. . . . . . g.6176
tttaggaaactctgaactctggattgtccttgtttacatacctgcctcctgcattggact c.-1981
. . . . . . g.6236
atgtgtctctgagtgtagtatgactaattcatttgtttgtcaaggactctcaatgcattt c.-1921
. . . . . . g.6296
gttgaacagcctaattagtaatgtctgcaacaatgacattttactgtatttaataaagct c.-1861
. . . . . . g.6356
ctgggaaagtaggatacacataagacaggtctaggtctaaattctttacagaaacttgga c.-1801
. . . . . . g.6416
tttttagttcggtttgaaatttgaagatgtgagtatatttatctcagtttcccaaaggac c.-1741
. . . . . . g.6476
aagctaattggaattatcatcctctttcacttgattggatccccagaatgccatttacgc c.-1681
. . . . . . g.6536
atgcagcaggattttataacagttttaaattctgtatatttgatgaagaggttttatatt c.-1621
. . . . . . g.6596
tttggattcaagcctctttttaaacttctacaatatggtttacaataattccttatatcc c.-1561
. . . . . . g.6656
tgcttttgaaatacatattacaactttttaagtttggaaggctatatttcaaggactgaa c.-1501
. . . . . . g.6716
gttacagtatactcaagtgatacacaagcctagcaccccactttccacatagtgttcgat c.-1441
. . . . . . g.6776
aaagattgataaactcgaaatcacagaccttttaattcttaagacaaatagcagcagaaa c.-1381
. . . . . . g.6836
gaaacatctttggcttatttctggtaaggtttttatgctctgtaaaacaaagaattgtat c.-1321
. . . . . . g.6896
tcatccgcgcagcacagattctattaaaaataaatgtgagagtcgttaatgtagtactgc c.-1261
. . . . . . g.6956
tcatttaccatcaaaattcacttttcaggaataatcccatcagtttaaattggatattgg c.-1201
. . . . . . g.7016
aatgagcattgattacatttaacttggtagcccaaaatttcttcatggggttttgaactc c.-1141
. . . . . . g.7076
ggcgggatttcaaaggttttaaaaatgagtttttgattttttttaaaaccctcaaatttc c.-1081
. . . . . . g.7136
attacctttaaactaggtcgaaacggggcgcaagagattggattaacaccatagtaatac c.-1021
. . . . . . g.7196
ttattttgttcttaaccatttcagggcttcttgaaatagaggctgtatggtgtaatggaa c.-961
. . . . . . g.7256
aaaacagccttggaatctgggagcctgattcctggattcagtcccagttttgcgtgacct c.-901
. . . . . . g.7316
tgggcaagttactttacttctctgaatttccgtttcctcctctgcaaaatgaggatcgca c.-841
. . . . . . g.7376
atagccaccttgcaaccttgactggagcgagcctcgcacaccccgcgccggcctggagga c.-781
. . . . . . g.7436
agagcagccatgattacgccgccttcgctccgctacccgcttgcggctggcgccctcctc c.-721
. . . . . . g.7496
cagcaggtgtaggcgctgccgcgctgccccacgcctttccgccgctcgcgggcctgcgcc c.-661
. . . . . . g.7556
tcggcgtccccgaggaggccgctgcgggctgaggtagcgcaccggcctctcggcgtccca c.-601
. . . . . . g.7616
gtccggtcccgggcggagggaaagcgggcgacccacctccgaggcagaagccgaggcccg c.-541
. . . . . . g.7676
gccccgccgagtgcggaggagcgcaggcagcccccgcccctcggccctccccccggccct c.-481
. . . . . . g.7736
cccggccctccctccgccccctccgccctcgcgcgccgcccgcccgggtcgccgcggggc c.-421
. . . . . . g.7796
cgtggtgtacgtgcagagcgcgcagagcgagtggcgcccgtatgccctgcgctcctccac c.-361
. . . . . . g.7856
agcctgggccgggccgcccgggacgctgaggcggcggcggcggccgagggggccggtctt c.-301
. . . . . . g.7916
gcgctccccaggcccgcgcgcctgagcccaggttgccattcgccgcacaggccctattct c.-241
. . . . . . g.7976
ctcagccctcggcggcgatgaggcgctgaggcggctgccggcgctgcgccggagcttagg c.-181
. . . . . . g.8036
actcggaagcggccgggccgagggcgtggggtgccggcctccctgaggcgagggtagcgg c.-121
. . . . . . g.8096
gtgcatggcgcagtaacggcccctatctctctccccgctccccagcctcgggcgaggccg c.-61
. . . . . . g.8156
tccggccgctacccctcctgctcggccgccgcagtcgccgtcgccgccgccgccgccgcc c.-1
. . . . . . g.8216
ATGGCCAATGACAGCGGCGGGCCCGGCGGGCCGAGCCCGAGCGAGCGAGACCGGCAGTAC c.60
M A N D S G G P G G P S P S E R D R Q Y p.20
. . . . . . g.8276
TGCGAGCTGTGCGGGAAGATGGAGAACCTGCTGCGCTGCAGCCGCTGCCGCAGCTCCTTC c.120
C E L C G K M E N L L R C S R C R S S F p.40
. . . . . . g.8336
TACTGCTGCAAGGAGCACCAGCGTCAGGACTGGAAGAAGCACAAGCTCGTGTGCCAGGGC c.180
Y C C K E H Q R Q D W K K H K L V C Q G p.60
. . . . . . g.8396
AGCGAGGGCGCCCTCGGCCACGGAGTGGGCCCACACCAGCATTCCGGCCCCGCGCCGCCG c.240
S E G A L G H G V G P H Q H S G P A P P p.80
. . . . . . g.8456
GCTGCAGTGCCGCCGCCCAGGGCCGGGGCCCGGGAGCCCAGGAAGGCAGCGGCGCGCCGG c.300
A A V P P P R A G A R E P R K A A A R R p.100
. . . . . . g.8516
GACAACGCCTCCGGGGACGCGGCCAAGGGAAAAGTAAAGGCCAAGCCCCCGGCCGACCCA c.360
D N A S G D A A K G K V K A K P P A D P p.120
. . . . . . g.8576
GCGGCGGCCGCGTCGCCGTGTCGTGCGGCCGCCGGCGGCCAGGGCTCGGCGGTGGCTGCC c.420
A A A A S P C R A A A G G Q G S A V A A p.140
. . . . . . g.8636
GAAGCCGAGCCCGGCAAGGAGGAGCCGCCGGCCCGCTCATCGCTGTTCCAGGAGAAGGCG c.480
E A E P G K E E P P A R S S L F Q E K A p.160
. . . . . . g.8696
AACCTGTACCCCCCAAGCAACACGCCCGGGGATGCGCTGAGCCCCGGCGGCGGCCTGCGG c.540
N L Y P P S N T P G D A L S P G G G L R p.180
. . . . . . g.8756
CCCAACGGGCAGACGAAGCCCCTGCCGGCGCTGAAGCTGGCGCTCGAGTACATCGTGCCG c.600
P N G Q T K P L P A L K L A L E Y I V P p.200
. . . . . . g.8816
TGCATGAACAAGCACGGCATCTGTGTGGTGGACGACTTCCTCGGCAAGGAGACCGGACAG c.660
C M N K H G I C V V D D F L G K E T G Q p.220
. . . . . . g.8876
CAGATCGGCGACGAGGTGCGCGCCCTGCACGACACCGGGAAGTTCACGGACGGGCAGCTG c.720
Q I G D E V R A L H D T G K F T D G Q L p.240
. . . . . . g.8936
GTCAGCCAGAAGAGTGACTCGTCCAAGGACATCCGAGGCGATAAGATCACCTGGATCGAG c.780
V S Q K S D S S K D I R G D K I T W I E p.260
. . . . . . g.8996
GGCAAGGAGCCCGGCTGCGAAACCATTGGGCTGCTCATGAGCAGCATGGACGACCTGATA c.840
G K E P G C E T I G L L M S S M D D L I p.280
. . . . . | 02 . g.55954
CGCCACTGTAACGGGAAGCTGGGCAGCTACAAAATCAATGGCCGGACGAAA | GCCATGGTT c.900
R H C N G K L G S Y K I N G R T K | A M V p.300
. . . . . . g.56014
GCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGAT c.960
A C Y P G N G T G Y V R H V D N P N G D p.320
. . . . . | 03 . g.59355
GGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAG | GTAAGTGGA c.1020
G R C V T C I Y Y L N K D W D A K | V S G p.340
. . . . . . g.59415
GGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTT c.1080
G I L R I F P E G K A Q F A D I E P K F p.360
. . . . . . g.59475
GATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATAT c.1140
D R L L F F W S D R R N P H E V Q P A Y p.380
| 04 . . . . . g.62460
GCTACAAG | GTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAA c.1200
A T R | Y A I T V W Y F D A D E R A R A K p.400
. | 05 . . . . . g.63613
GTAAAATATCTAACAG | GTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCG c.1260
V K Y L T G | E K G V R V E L N K P S D S p.420
. . g.63634
GTCGGTAAAGACGTCTTCTAG c.1281
V G K D V F X p.426
. . . . . . g.63694
agcctttgatccagcaataccccacttcacctacaatattgttaactatttgttaacttg c.*60
. . . . . . g.63754
tgaatacgaataaatgggataaagaaaaatagacaaccagttcgcattttaataaggaaa c.*120
. . . . . . g.63814
cagaaacaactttttgtgttgcatcaaacagaagattttgactgctgtgactttgtactg c.*180
. . . . . . g.63874
catgatcaacttcaaatctgtgattgcttacaggaggaagataagctactaattgaaaat c.*240
. . . . . . g.63934
ggtttttacatctggatatgaaataagtgccctgtgtagaatttttttcattcttatatt c.*300
. . . . . . g.63994
ttgccagatctgttatctagctgagttcatttcatctctcccttttttatatcaagtttg c.*360
. . . . . . g.64054
aatttgggataatttttctatattaggtacaatttatctaaactgaattgagaaaaaatt c.*420
. . . . . . g.64114
acagtattattcctcaaaataacatcaatctatttttgtaaacctgttcatactattaaa c.*480
. . . . . . g.64174
ttttgccctaaaagacctcttaataatgattgttgccagtgactgatgattaattttatt c.*540
. . . . . . g.64234
ttacttaaaataagaaaaggagcactttaattacaactgaaaaatcagattgttttgtag c.*600
. . . . . . g.64294
tccttccttacactaatttgaactgttaaagattgctgctttttttttgacattgtcaat c.*660
. . . . . . g.64354
aacgaaacctaattgtaaaacagtcaccatttactaccaataacttttagttaatgtttt c.*720
. . . . . . g.64414
acaaggaaaaagacacaagaagagtttaaatttttttgttttgttttgtttttttgagac c.*780
. . . . . . g.64474
agtcttgctctgttacccaggctggaggggagtggtgcattcttggctcactgcaacctc c.*840
. . . . . . g.64534
cgcctcccaggttcaagcaatcctcccacctcagcctcccaactagctgggactgcaggc c.*900
. . . . . . g.64594
acacaccaccatgcctgactaatttttgtatgtttagtagagacggggttttgccatgtt c.*960
. . . . . . g.64654
gcctaggctggggtttaagttaaattttttaaaaaactaaagtgactggcactaagtgaa c.*1020
. . . . . . g.64714
cttgagattatcctcagcttcaagttcctaagataagggctttcttaagctttcaggtgt c.*1080
. . . . . . g.64774
atgtatcctctagatgtagacaataatgtcccatttctaagtcttttccttttgcttctc c.*1140
. . . . . . g.64834
cttaaattgattgtacttccaaatttgctgttatgtttttttcctaatactgtgatctat c.*1200
. . . . . . g.64894
ctgatctgcagacaagaaccttgtctctgttgaagagcatcaaggggagattatgtacac c.*1260
. . . . . . g.64954
attgaaactgaagtgtggtgttactgacggaatgtgcagtaactcctcagatatctgtta c.*1320
. . . . . . g.65014
aggcatttcccagatgtgatgccagccttcttacctgtactgaaagatgcttagcttaga c.*1380
. . . . . . g.65074
aaaaaacaaaacagatgcaaaatcagataattttattttgtttcatgggttttcttattt c.*1440
. . . . . . g.65134
actttttaaacaaggaaggaatattagaaaatcacacaaggcctcacatacatgttattt c.*1500
. . . . . . g.65194
aaagaatgaattgggacggatgtcttagacttcactttcctaggctttttagcaaaacct c.*1560
. . . . . . g.65254
aaagggtggtatccatattttgcgtgaattatgggtgtaagaccttgcccacttaggttt c.*1620
. . . . . . g.65314
tctatctctgtccttgatcttctttgccaaaatgtgagtatacagaaattttctgtatat c.*1680
. . . . . . g.65374
ttcaacttaagacatttttagcatctgtatagtttgtattcaatttgagaccttttctat c.*1740
. . . . . . g.65434
gggaagctcagtaatttttattaaaagattgccattgctattcatgtaaaacatggaaaa c.*1800
. . . . . . g.65494
aaattgtgtagtgaagccaacagtggacttaggatgggattgaatgttcagtatagtgat c.*1860
. . . . . . g.65554
ctcacttaggagaatttgcaggagaaagtgatagtttattgttttttcctcgcccatatt c.*1920
. . . . . . g.65614
cagttttgttctacttcctccccttccttccagatgataacatcacatctctacagtaag c.*1980
. . . . . . g.65674
tgcctctgccagcccaacccaggagcgcaagttgtctttgccatctggtctatagtacag c.*2040
. . . . . . g.65734
tgcgcggcgttaggccacaactcaaaagcattatcttttttagggttagtagaaattgtt c.*2100
. . . . . . g.65794
ttatgttgatgggaggtttgtttgattgtcaaaatgtacagccacagccttttaatttgg c.*2160
. . . . . . g.65854
gagcccctgttgtcattcaaatgtgtacctctacagttgtaaaaagtattagattctact c.*2220
. . . . . . g.65914
atctgtgggttgtgcttgccagacaggtcttaaattgtatattttttggaaaagtttata c.*2280
. . . . . . g.65974
tactctcttaggaatcattgtgaaaagatcaagaaatcaggatggccatttatttaatat c.*2340
. . . . . . g.66034
ccattcatttcatgttagtgggactattaacttgtcaccaagcaggactctatttcaaac c.*2400
. . . . . . g.66094
aaaatttaaaactgtttgtggcctatatgtgtttaatcctggttaaagataaagcttcat c.*2460
. . . . . . g.66154
aatgctgtttttattcaacacattaaccagctgtaaaacacagacctttatcaagagtag c.*2520
. . . . . . g.66214
gcaaagattttcaggattcatatacagatagactataaagtcatgtaatttgaaaagcag c.*2580
. . . . . . g.66274
tgtttcattatgaaagagctctcaagttgcttgtaaagctaatctaattaaaaagatgta c.*2640
. . g.66294
taaatgttgttgaaacatta c.*2660
(downstream sequence)
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