(used for variant description)
(last modified February 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005228.3 in the EGFR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007726.3, covering EGFR transcript NM_005228.3.
(upstream sequence)
g.5006
ccccgg c.-241
. . . . . . g.5066
cgcagcgcggccgcagcagcctccgccccccgcacggtgtgagcgcccgacgcggccgag c.-181
. . . . . . g.5126
gcggccggagtcccgagctagccccggcggccgccgccgcccagaccggacgacaggcca c.-121
. . . . . . g.5186
cctcgtcggcgtccgcccgagtccccgcctcgccgccaacgccacaaccaccgcgcacgg c.-61
. . . . . . g.5246
ccccctgactccgtccagtattgatcgggagagccggagcgagctcttcggggagcagcg c.-1
. . . . . . g.5306
ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG c.60
M R P S G T A G A A L L A L L A A L C P p.20
. . | 02 . . . g.128286
GCGAGTCGGGCTCTGGAGGAAAAGAAAG | TTTGCCAAGGCACGAGTAACAAGCTCACGCAG c.120
A S R A L E E K K V | C Q G T S N K L T Q p.40
. . . . . . g.128346
TTGGGCACTTTTGAAGATCATTTTCTCAGCCTCCAGAGGATGTTCAATAACTGTGAGGTG c.180
L G T F E D H F L S L Q R M F N N C E V p.60
. . . . . . g.128406
GTCCTTGGGAATTTGGAAATTACCTATGTGCAGAGGAATTATGATCTTTCCTTCTTAAAG c.240
V L G N L E I T Y V Q R N Y D L S F L K p.80
| 03 . . . . . . g.129333
| ACCATCCAGGAGGTGGCTGGTTATGTCCTCATTGCCCTCAACACAGTGGAGCGAATTCCT c.300
| T I Q E V A G Y V L I A L N T V E R I P p.100
. . . . . . g.129393
TTGGAAAACCTGCAGATCATCAGAGGAAATATGTACTACGAAAATTCCTATGCCTTAGCA c.360
L E N L Q I I R G N M Y Y E N S Y A L A p.120
. . . . . . g.129453
GTCTTATCTAACTATGATGCAAATAAAACCGGACTGAAGGAGCTGCCCATGAGAAATTTA c.420
V L S N Y D A N K T G L K E L P M R N L p.140
| 04 . . . . . . g.132630
CAGG | AAATCCTGCATGGCGCCGTGCGGTTCAGCAACAACCCTGCCCTGTGCAACGTGGAG c.480
Q E | I L H G A V R F S N N P A L C N V E p.160
. . . . . . g.132690
AGCATCCAGTGGCGGGACATAGTCAGCAGTGACTTTCTCAGCAACATGTCGATGGACTTC c.540
S I Q W R D I V S S D F L S N M S M D F p.180
. | 05 . . . . g.137303
CAGAACCACCTGGGCAGCT | GCCAAAAGTGTGATCCAAGCTGTCCCAATGGGAGCTGCTGG c.600
Q N H L G S C | Q K C D P S C P N G S C W p.200
. . | 06 . . . g.138546
GGTGCAGGAGAGGAGAACTGCCAGAAAC | TGACCAAAATCATCTGTGCCCAGCAGTGCTCC c.660
G A G E E N C Q K L | T K I I C A Q Q C S p.220
. . . . . . g.138606
GGGCGCTGCCGTGGCAAGTCCCCCAGTGACTGCTGCCACAACCAGTGTGCTGCAGGCTGC c.720
G R C R G K S P S D C C H N Q C A A G C p.240
. . | 07. . . . g.140012
ACAGGCCCCCGGGAGAGCGACTGCCTG | GTCTGCCGCAAATTCCGAGACGAAGCCACGTGC c.780
T G P R E S D C L | V C R K F R D E A T C p.260
. . . . . . g.140072
AAGGACACCTGCCCCCCACTCATGCTCTACAACCCCACCACGTACCAGATGGATGTGAAC c.840
K D T C P P L M L Y N P T T Y Q M D V N p.280
. . . . | 08 . g.141809
CCCGAGGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTCCCC | GTAATTATGTG c.900
P E G K Y S F G A T C V K K C P R | N Y V p.300
. . . . . . g.141869
GTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAA c.960
V T D H G S C V R A C G A D S Y E M E E p.320
. . . . | 09 . . g.142515
GACGGCGTCCGCAAGTGTAAGAAGTGCGAAGGGCCTTGCCGCAAAG | TGTGTAACGGAATA c.1020
D G V R K C K K C E G P C R K V | C N G I p.340
. . . . . . g.142575
GGTATTGGTGAATTTAAAGACTCACTCTCCATAAATGCTACGAATATTAAACACTTCAAA c.1080
G I G E F K D S L S I N A T N I K H F K p.360
. . . . . | 10 . g.142734
AACTGCACCTCCATCAGTGGCGATCTCCACATCCTGCCGGTGGCATTTAGGGG | TGACTCC c.1140
N C T S I S G D L H I L P V A F R G | D S p.380
. . . . . . g.142794
TTCACACATACTCCTCCTCTGGATCCACAGGAACTGGATATTCTGAAAACCGTAAAGGAA c.1200
F T H T P P L D P Q E L D I L K T V K E p.400
| 11. . . . . . g.143684
ATCACAG | GGTTTTTGCTGATTCAGGCTTGGCCTGAAAACAGGACGGACCTCCATGCCTTT c.1260
I T G | F L L I Q A W P E N R T D L H A F p.420
. . . | 12 . . g.146129
GAGAACCTAGAAATCATACGCGGCAGGACCAAGCAACA | TGGTCAGTTTTCTCTTGCAGTC c.1320
E N L E I I R G R T K Q H | G Q F S L A V p.440
. . . . . . g.146189
GTCAGCCTGAACATAACATCCTTGGGATTACGCTCCCTCAAGGAGATAAGTGATGGAGAT c.1380
V S L N I T S L G L R S L K E I S D G D p.460
. . . . . . g.146249
GTGATAATTTCAGGAAACAAAAATTTGTGCTATGCAAATACAATAAACTGGAAAAAACTG c.1440
V I I S G N K N L C Y A N T I N W K K L p.480
. . . . . | 13 g.147469
TTTGGGACCTCCGGTCAGAAAACCAAAATTATAAGCAACAGAGGTGAAAACAGCTGCA | AG c.1500
F G T S G Q K T K I I S N R G E N S C K | p.500
. . . . . . g.147529
GCCACAGGCCAGGTCTGCCATGCCTTGTGCTCCCCCGAGGGCTGCTGGGGCCCGGAGCCC c.1560
A T G Q V C H A L C S P E G C W G P E P p.520
. . . . . . g.147589
AGGGACTGCGTCTCTTGCCGGAATGTCAGCCGAGGCAGGGAATGCGTGGACAAGTGCAAC c.1620
R D C V S C R N V S R G R E C V D K C N p.540
. | 14 . . . . . g.149750
CTTCTGGAGGG | TGAGCCAAGGGAGTTTGTGGAGAACTCTGAGTGCATACAGTGCCACCCA c.1680
L L E G | E P R E F V E N S E C I Q C H P p.560
. . . . | 15 . . g.151266
GAGTGCCTGCCTCAGGCCATGAACATCACCTGCACAGGACGG | GGACCAGACAACTGTATC c.1740
E C L P Q A M N I T C T G R | G P D N C I p.580
. . . . . . g.151326
CAGTGTGCCCACTACATTGACGGCCCCCACTGCGTCAAGACCTGCCCGGCAGGAGTCATG c.1800
Q C A H Y I D G P H C V K T C P A G V M p.600
. . . . . . g.151386
GGAGAAAACAACACCCTGGTCTGGAAGTACGCAGACGCCGGCCATGTGTGCCACCTGTGC c.1860
G E N N T L V W K Y A D A G H V C H L C p.620
. . | 16 . . . | 17 g.158952
CATCCAAACTGCACCTACGG | ATGCACTGGGCCAGGTCTTGAAGGCTGTCCAACGAATGG | G c.1920
H P N C T Y G | C T G P G L E G C P T N G | p.640
. . . . . . g.159012
CCTAAGATCCCGTCCATCGCCACTGGGATGGTGGGGGCCCTCCTCTTGCTGCTGGTGGTG c.1980
P K I P S I A T G M V G A L L L L L V V p.660
. . . . . . g.159072
GCCCTGGGGATCGGCCTCTTCATGCGAAGGCGCCACATCGTTCGGAAGCGCACGCTGCGG c.2040
A L G I G L F M R R R H I V R K R T L R p.680
. . | 18 . . . . g.159928
AGGCTGCTGCAGGAGAGGGAG | CTTGTGGAGCCTCTTACACCCAGTGGAGAAGCTCCCAAC c.2100
R L L Q E R E | L V E P L T P S G E A P N p.700
. . . . . . g.159988
CAAGCTCTCTTGAGGATCTTGAAGGAAACTGAATTCAAAAAGATCAAAGTGCTGGGCTCC c.2160
Q A L L R I L K E T E F K K I K V L G S p.720
. . | 19 . . . . g.160726
GGTGCGTTCGGCACGGTGTATAAG | GGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATT c.2220
G A F G T V Y K | G L W I P E G E K V K I p.740
. . . . . . g.160786
CCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTC c.2280
P V A I K E L R E A T S P K A N K E I L p.760
| 20 . . . . . . g.167318
GAT | GAAGCCTACGTGATGGCCAGCGTGGACAACCCCCACGTGTGCCGCCTGCTGGGCATC c.2340
D | E A Y V M A S V D N P H V C R L L G I p.780
. . . . . . g.167378
TGCCTCACCTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCTGCCTCCTGGAC c.2400
C L T S T V Q L I T Q L M P F G C L L D p.800
. . . . . . g.167438
TATGTCCGGGAACACAAAGACAATATTGGCTCCCAGTACCTGCTCAACTGGTGTGTGCAG c.2460
Y V R E H K D N I G S Q Y L L N W C V Q p.820
| 21 . . . . . g.177738
ATCGCAAAG | GGCATGAACTACTTGGAGGACCGTCGCTTGGTGCACCGCGACCTGGCAGCC c.2520
I A K | G M N Y L E D R R L V H R D L A A p.840
. . . . . . g.177798
AGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAA c.2580
R N V L V K T P Q H V K I T D F G L A K p.860
. . . . | 22 . . g.178749
CTGCTGGGTGCGGAAGAGAAAGAATACCATGCAGAAGGAGGCAAA | GTGCCTATCAAGTGG c.2640
L L G A E E K E Y H A E G G K | V P I K W p.880
. . . . . . g.178809
ATGGCATTGGAATCAATTTTACACAGAATCTATACCCACCAGAGTGATGTCTGGAGCTAC c.2700
M A L E S I L H R I Y T H Q S D V W S Y p.900
| 23 . . . . . . g.184744
G | GGGTGACCGTTTGGGAGTTGATGACCTTTGGATCCAAGCCATATGACGGAATCCCTGCC c.2760
G | V T V W E L M T F G S K P Y D G I P A p.920
. . . . . . g.184804
AGCGAGATCTCCTCCATCCTGGAGAAAGGAGAACGCCTCCCTCAGCCACCCATATGTACC c.2820
S E I S S I L E K G E R L P Q P P I C T p.940
. . | 24 . . . g.186316
ATCGATGTCTACATGATCATGGTCAAGT | GCTGGATGATAGACGCAGATAGTCGCCCAAAG c.2880
I D V Y M I M V K C | W M I D A D S R P K p.960
. . . . . . g.186376
TTCCGTGAGTTGATCATCGAATTCTCCAAAATGGCCCGAGACCCCCAGCGCTACCTTGTC c.2940
F R E L I I E F S K M A R D P Q R Y L V p.980
| 25 . . . . . . g.187210
ATTCAG | GGGGATGAAAGAATGCATTTGCCAAGTCCTACAGACTCCAACTTCTACCGTGCC c.3000
I Q | G D E R M H L P S P T D S N F Y R A p.1000
. . . . . . g.187270
CTGATGGATGAAGAAGACATGGACGACGTGGTGGATGCCGACGAGTACCTCATCCCACAG c.3060
L M D E E D M D D V V D A D E Y L I P Q p.1020
. . . . . | 26 . g.187709
CAGGGCTTCTTCAGCAGCCCCTCCACGTCACGGACTCCCCTCCTGAGCTCTCTG | AGTGCA c.3120
Q G F F S S P S T S R T P L L S S L | S A p.1040
. . . . | 27 . . g.188503
ACCAGCAACAATTCCACCGTGGCTTGCATTGATAGAAATGGG | CTGCAAAGCTGTCCCATC c.3180
T S N N S T V A C I D R N G | L Q S C P I p.1060
. . . . . . g.188563
AAGGAAGACAGCTTCTTGCAGCGATACAGCTCAGACCCCACAGGCGCCTTGACTGAGGAC c.3240
K E D S F L Q R Y S S D P T G A L T E D p.1080
. . . | 28 . . . g.191253
AGCATAGACGACACCTTCCTCCCAGTGCCTG | AATACATAAACCAGTCCGTTCCCAAAAGG c.3300
S I D D T F L P V P E | Y I N Q S V P K R p.1100
. . . . . . g.191313
CCCGCTGGCTCTGTGCAGAATCCTGTCTATCACAATCAGCCTCTGAACCCCGCGCCCAGC c.3360
P A G S V Q N P V Y H N Q P L N P A P S p.1120
. . . . . . g.191373
AGAGACCCACACTACCAGGACCCCCACAGCACTGCAGTGGGCAACCCCGAGTATCTCAAC c.3420
R D P H Y Q D P H S T A V G N P E Y L N p.1140
. . . . . . g.191433
ACTGTCCAGCCCACCTGTGTCAACAGCACATTCGACAGCCCTGCCCACTGGGCCCAGAAA c.3480
T V Q P T C V N S T F D S P A H W A Q K p.1160
. . . . . . g.191493
GGCAGCCACCAAATTAGCCTGGACAACCCTGACTACCAGCAGGACTTCTTTCCCAAGGAA c.3540
G S H Q I S L D N P D Y Q Q D F F P K E p.1180
. . . . . . g.191553
GCCAAGCCAAATGGCATCTTTAAGGGCTCCACAGCTGAAAATGCAGAATACCTAAGGGTC c.3600
A K P N G I F K G S T A E N A E Y L R V p.1200
. . . g.191586
GCGCCACAAAGCAGTGAATTTATTGGAGCATGA c.3633
A P Q S S E F I G A X p.1210
. . . . . . g.191646
ccacggaggatagtatgagccctaaaaatccagactctttcgatacccaggaccaagcca c.*60
. . . . . . g.191706
cagcaggtcctccatcccaacagccatgcccgcattagctcttagacccacagactggtt c.*120
. . . . . . g.191766
ttgcaacgtttacaccgactagccaggaagtacttccacctcgggcacattttgggaagt c.*180
. . . . . . g.191826
tgcattcctttgtcttcaaactgtgaagcatttacagaaacgcatccagcaagaatattg c.*240
. . . . . . g.191886
tccctttgagcagaaatttatctttcaaagaggtatatttgaaaaaaaaaaaaagtatat c.*300
. . . . . . g.191946
gtgaggatttttattgattggggatcttggagtttttcattgtcgctattgatttttact c.*360
. . . . . . g.192006
tcaatgggctcttccaacaaggaagaagcttgctggtagcacttgctaccctgagttcat c.*420
. . . . . . g.192066
ccaggcccaactgtgagcaaggagcacaagccacaagtcttccagaggatgcttgattcc c.*480
. . . . . . g.192126
agtggttctgcttcaaggcttccactgcaaaacactaaagatccaagaaggccttcatgg c.*540
. . . . . . g.192186
ccccagcaggccggatcggtactgtatcaagtcatggcaggtacagtaggataagccact c.*600
. . . . . . g.192246
ctgtcccttcctgggcaaagaagaaacggaggggatggaattcttccttagacttacttt c.*660
. . . . . . g.192306
tgtaaaaatgtccccacggtacttactccccactgatggaccagtggtttccagtcatga c.*720
. . . . . . g.192366
gcgttagactgacttgtttgtcttccattccattgttttgaaactcagtatgctgcccct c.*780
. . . . . . g.192426
gtcttgctgtcatgaaatcagcaagagaggatgacacatcaaataataactcggattcca c.*840
. . . . . . g.192486
gcccacattggattcatcagcatttggaccaatagcccacagctgagaatgtggaatacc c.*900
. . . . . . g.192546
taaggatagcaccgcttttgttctcgcaaaaacgtatctcctaatttgaggctcagatga c.*960
. . . . . . g.192606
aatgcatcaggtcctttggggcatagatcagaagactacaaaaatgaagctgctctgaaa c.*1020
. . . . . . g.192666
tctcctttagccatcaccccaaccccccaaaattagtttgtgttacttatggaagatagt c.*1080
. . . . . . g.192726
tttctccttttacttcacttcaaaagctttttactcaaagagtatatgttccctccaggt c.*1140
. . . . . . g.192786
cagctgcccccaaaccccctccttacgctttgtcacacaaaaagtgtctctgccttgagt c.*1200
. . . . . . g.192846
catctattcaagcacttacagctctggccacaacagggcattttacaggtgcgaatgaca c.*1260
. . . . . . g.192906
gtagcattatgagtagtgtggaattcaggtagtaaatatgaaactagggtttgaaattga c.*1320
. . . . . . g.192966
taatgctttcacaacatttgcagatgttttagaaggaaaaaagttccttcctaaaataat c.*1380
. . . . . . g.193026
ttctctacaattggaagattggaagattcagctagttaggagcccaccttttttcctaat c.*1440
. . . . . . g.193086
ctgtgtgtgccctgtaacctgactggttaacagcagtcctttgtaaacagtgttttaaac c.*1500
. . . . . . g.193146
tctcctagtcaatatccaccccatccaatttatcaaggaagaaatggttcagaaaatatt c.*1560
. . . . . . g.193206
ttcagcctacagttatgttcagtcacacacacatacaaaatgttccttttgcttttaaag c.*1620
. . . . . . g.193266
taatttttgactcccagatcagtcagagcccctacagcattgttaagaaagtatttgatt c.*1680
. . . . g.193307
tttgtctcaatgaaaataaaactatattcatttccactcta c.*1721
(downstream sequence)
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