(used for variant description)
(last modified September 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000127.2 in the EXT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007455.2, covering EXT1 transcript NM_000127.2.
(upstream sequence)
. . . . . g.5053
ggcgaccgaacgcggcggtcggcagcgttcgcgcgggggcctgcgaagcgctg c.-721
. . . . . . g.5113
ctcggggccggcactgcccgcggggaggacgcgccgccgccgccacccagcgccgccgcc c.-661
. . . . . . g.5173
gccgccgcctccagccgggccgccgcgcgtcccgggggccggccccgcgagcgcaggagt c.-601
. . . . . . g.5233
aaacaccgccggagtcttggagccgctgcagaagggaataaagagagatgcagggatttg c.-541
. . . . . . g.5293
tgaggttacggcgccccagctgcaagatgcactagccggctgaacccgggatcggctgac c.-481
. . . . . . g.5353
ttgttggaaccggagtgctctgcacggagagtggtggatgagttgaagttgccttcccgg c.-421
. . . . . . g.5413
ggctcattttccacgctgccgagaggaatccgagaggcaaggcaatcacttcgtcttgcc c.-361
. . . . . . g.5473
attgattgggtatcgggagctttttttttctcccctctctctttcttttcctccgtcttg c.-301
. . . . . . g.5533
ttgcatgcaagaaaattacagtccgctgctcgcccgccctgggtgcgagatattcagccc c.-241
. . . . . . g.5593
cgctctctcccgtgcattgtgcaacccaaagatgaaagaccgaaggggagaaagttaaag c.-181
. . . . . . g.5653
aaatcgcccacatgcgctggatcagtccacggcttggggaaaggcatccagagaaggtgg c.-121
. . . . . . g.5713
gagcggagagtttgaagtctttacaggcgggaagatggcggactggagctgaaagtgttg c.-61
. . . . . . g.5773
attgggaaacttgggtgattcttgtgtttatttacaatcctcttgacccaggcaggacac c.-1
. . . . . . g.5833
ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTG c.60
M Q A K K R Y F I L L S A G S C L A L L p.20
. . . . . . g.5893
TTTTATTTCGGAGGCTTGCAGTTTAGGGCATCGAGGAGCCACAGCCGGAGAGAAGAACAC c.120
F Y F G G L Q F R A S R S H S R R E E H p.40
. . . . . . g.5953
AGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGAC c.180
S G R N G L H H P S P D H F W P R F P D p.60
. . . . . . g.6013
GCTCTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATT c.240
A L R P F V P W D Q L E N E D S S V H I p.80
. . . . . . g.6073
TCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACAAAGGCAAGAAGTGCCGCATG c.300
S P R Q K R D A N S S I Y K G K K C R M p.100
. . . . . . g.6133
GAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCA c.360
E S C F D F T L C K K N G F K V Y V Y P p.120
. . . . . . g.6193
CAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGC c.420
Q Q K G E K I A E S Y Q N I L A A I E G p.140
. . . . . . g.6253
TCCAGGTTCTACACCTCGGACCCCAGCCAGGCGTGCCTCTTTGTCCTGAGTCTGGATACT c.480
S R F Y T S D P S Q A C L F V L S L D T p.160
. . . . . . g.6313
TTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGT c.540
L D R D Q L S P Q Y V H N L R S K V Q S p.180
. . . . . . g.6373
CTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGG c.600
L H L W N N G R N H L I F N L Y S G T W p.200
. . . . . . g.6433
CCTGACTACACCGAGGACGTGGGGTTTGACATCGGCCAGGCGATGCTGGCCAAAGCCAGC c.660
P D Y T E D V G F D I G Q A M L A K A S p.220
. . . . . . g.6493
ATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGAT c.720
I S T E N F R P N F D V S I P L F S K D p.240
. . . . . . g.6553
CATCCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGG c.780
H P R T G G E R G F L K F N T I P P L R p.260
. . . . . . g.6613
AAGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGG c.840
K Y M L V F K G K R Y L T G I G S D T R p.280
. . . . . . g.6673
AATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCAT c.900
N A L Y H V H N G E D V V L L T T C K H p.300
. . . . . . g.6733
GGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAG c.960
G K D W Q K H K D S R C D R D N T E Y E p.320
| 02 . . . . . . g.279676
AA | GTATGATTATCGGGAAATGCTGCACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGC c.1020
K | Y D Y R E M L H N A T F C L V P R G R p.340
. . . | 03 . . . g.281292
AGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAG | GCTGCCTGCGTCCCTGTGATGCTC c.1080
R L G S F R F L E A L Q | A A C V P V M L p.360
. . . . . . g.281352
AGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATA c.1140
S N G W E L P F S E V I N W N Q A A V I p.380
. . | 04 . . . . g.286506
GGCGATGAGAGATTGTTATTACAG | ATTCCTTCTACAATCAGGTCTATTCATCAGGATAAA c.1200
G D E R L L L Q | I P S T I R S I H Q D K p.400
. . . . . . g.286566
ATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAG c.1260
I L A L R Q Q T Q F L W E A Y F S S V E p.420
. . | 05 . . . . g.294258
AAGATTGTATTAACTACACTAGAG | ATTATTCAGGACAGAATATTCAAGCACATATCACGT c.1320
K I V L T T L E | I I Q D R I F K H I S R p.440
. . . . . . g.294318
AACAGTTTAATATGGAACAAACATCCTGGAGGATTGTTCGTACTACCACAGTATTCATCT c.1380
N S L I W N K H P G G L F V L P Q Y S S p.460
. . . | 06. . . g.297048
TATCTGGGAGATTTTCCTTACTACTATGCTAATTTAG | GTTTAAAGCCCCCCTCCAAATTC c.1440
Y L G D F P Y Y Y A N L G | L K P P S K F p.480
. . . . . . g.297108
ACTGCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTT c.1500
T A V I H A V T P L V S Q S Q P V L K L p.500
. . . | 07 . . . g.298313
CTCGTGGCTGCAGCCAAGTCCCAGTACTGTGCCCAG | ATCATAGTTCTATGGAATTGTGAC c.1560
L V A A A K S Q Y C A Q | I I V L W N C D p.520
. . . . . . g.298373
AAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAA c.1620
K P L P A K H R W P A T A V P V V V I E p.540
. | 08 . . . . . g.303906
GGAGAGAGCAAG | GTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCC c.1680
G E S K | V M S S R F L P Y D N I I T D A p.560
. . . . | 09 . . g.309460
GTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAG | GTGGATTTCGCCTTCACA c.1740
V L S L D E D T V L S T T E | V D F A F T p.580
. . . . . . g.309520
GTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGAT c.1800
V W Q S F P E R I V G Y P A R S H F W D p.600
. . . . . . g.309580
AACTCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTG c.1860
N S K E R W G Y T S K W T N D Y S M V L p.620
. . | 10 . . . . g.311963
ACAGGAGCTGCTATTTACCACAA | ATATTATCACTACCTATACTCCCATTACCTGCCAGCC c.1920
T G A A I Y H K | Y Y H Y L Y S H Y L P A p.640
. . . . . . g.312023
AGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTG c.1980
S L K N M V D Q L A N C E D I L M N F L p.660
. . . . . . g.312083
GTGTCTGCTGTGACAAAATTGCCTCCAATCAAAGTGACCCAGAAGAAGCAGTATAAGGAG c.2040
V S A V T K L P P I K V T Q K K Q Y K E p.680
. | 11 . . . . . g.316967
ACAATGATGGGACAG | ACTTCTCGGGCTTCCCGTTGGGCTGACCCTGACCACTTTGCCCAG c.2100
T M M G Q | T S R A S R W A D P D H F A Q p.700
. . . . . . g.317027
CGACAGAGCTGCATGAATACGTTTGCCAGCTGGTTTGGCTACATGCCGCTGATCCACTCT c.2160
R Q S C M N T F A S W F G Y M P L I H S p.720
. . . . . . g.317087
CAGATGAGGCTCGACCCCGTCCTCTTTAAAGACCAGGTCTCTATTTTGAGGAAGAAATAC c.2220
Q M R L D P V L F K D Q V S I L R K K Y p.740
. . g.317108
CGAGACATTGAGCGACTTTGA c.2241
R D I E R L X p.746
. . . . . . g.317168
ggaatccggctgagtgggggaggggaagcaagaagggatgggggtcaagctgctctctct c.*60
. . . . . . g.317228
tcccagtgcagatccactcatcagcagagccagattgtgccaactatccaaaaacttaga c.*120
. . . . . . g.317288
tgagcagaatgacaaaaaaaaaaaggccaatgagaactcaactcctggctcctgggactg c.*180
. . . . . . g.317348
caccagactgctccaaactcacctcactggcttctgtgtcccaagactaggttgtgtaca c.*240
. . . . . . g.317408
gtttaattatggaacattaaataattatttttgaaatgattgctatgcaggtttaaactt c.*300
. . . . g.317457
ttttaatgatcaaaactattaaaaaccagagttctttgtttaatcaaaa c.*349
(downstream sequence)
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