(used for variant description)
(last modified May 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_152380.2 in the TBX15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering TBX15 transcript NM_152380.2.
(upstream sequence)
. g.5015
tctttccggcttctt c.-301
. . . . . . g.5075
tgcaaaaggatagaaccgtctcgaccagggcactaggactggaagatcgggctgtgtcta c.-241
. . . . . . g.5135
ggccgctgtccgcgaaatccgagacgttttttcagcttggctaggaccgacttcgctgcc c.-181
. . . . . . g.5195
ggtttgagctttctctgcactcgggggtctcctgccgtcctcgaccggtggcgtaacttg c.-121
. | 02 . . . . . g.62777
ggaagag | attctgagcagagcactggttcagattctgaggtcctcactgagcggacttcc c.-61
. . . . . . g.62837
tgctccttcagtactcacactgacctggcctctggtgctgcaggccctgtgcctgctgcc c.-1
. . . . . . g.62897
ATGTCTTCCATGGAGGAGATTCAGGTGGAGCTGCAATGTGCTGACCTCTGGAAGCGGTTC c.60
M S S M E E I Q V E L Q C A D L W K R F p.20
. . . . | 03 . . g.67964
CATGATATTGGAACTGAAATGATCATCACCAAAGCAGGCAG | GAGGATGTTTCCTGCCATG c.120
H D I G T E M I I T K A G R | R M F P A M p.40
. . . . . . g.68024
AGAGTGAAAATCACTGGCCTAGATCCACATCAGCAGTACTACATAGCAATGGACATTGTG c.180
R V K I T G L D P H Q Q Y Y I A M D I V p.60
. . | 04 . . . . g.69776
CCTGTGGACAATAAAAGATACAG | ATATGTGTATCATAGCTCCAAGTGGATGGTGGCTGGC c.240
P V D N K R Y R | Y V Y H S S K W M V A G p.80
. . . . . . g.69836
AATGCTGATTCCCCTGTGCCCCCAAGAGTTTATATACACCCTGATTCTCTAGCTTCTGGA c.300
N A D S P V P P R V Y I H P D S L A S G p.100
. . . . . . g.69896
GACACCTGGATGAGACAGGTGGTCAGTTTTGACAAACTCAAGCTTACCAACAATGAGTTG c.360
D T W M R Q V V S F D K L K L T N N E L p.120
. | 05 . . . . . g.70998
GATGATCAAGGACAT | ATCATTCTGCACTCTATGCACAAATACCAGCCTCGAGTTCATGTG c.420
D D Q G H | I I L H S M H K Y Q P R V H V p.140
. . . . . . g.71058
ATTCGCAAAGACTTCAGCAGTGACCTTTCACCCACTAAGCCTGTTCCTGTTGGGGATGGG c.480
I R K D F S S D L S P T K P V P V G D G p.160
. . . . . . g.71118
GTGAAAACGTTCAACTTTCCTGAGACTGTGTTCACCACAGTTACGGCCTATCAGAATCAG c.540
V K T F N F P E T V F T T V T A Y Q N Q p.180
| 06 . . . . . . g.80434
CAG | ATTACCAGATTAAAAATTGACCGAAACCCTTTTGCTAAAGGATTCAGAGATTCTGGG c.600
Q | I T R L K I D R N P F A K G F R D S G p.200
| 07 . . . . . g.95483
AGAAACAG | AACTGGACTTGAAGCCATCATGGAGACATATGCATTCTGGAGACCTCCTGTG c.660
R N R | T G L E A I M E T Y A F W R P P V p.220
. . . . | 08 . . g.109054
CGCACACTCACCTTCGAAGACTTCACCACCATGCAGAAGCAGCAAG | GAGGCAGCACAGGC c.720
R T L T F E D F T T M Q K Q Q G | G S T G p.240
. . . . . . g.109114
ACTTCCCCAACCACCTCCAGCACTGGGACACCATCCCCTTCGGCTTCTTCTCATCTTTTA c.780
T S P T T S S T G T P S P S A S S H L L p.260
. . . . . . g.109174
TCTCCATCCTGTTCTCCTCCAACTTTTCATCTGGCCCCCAACACTTTCAATGTGGGCTGC c.840
S P S C S P P T F H L A P N T F N V G C p.280
. . . . . . g.109234
CGAGAAAGCCAGCTGTGTAATCTAAACCTCTCTGATTATCCACCATGTGCCCGAAGCAAC c.900
R E S Q L C N L N L S D Y P P C A R S N p.300
. . . . . . g.109294
ATGGCTGCCTTGCAGAGCTACCCAGGGCTGAGTGACAGTGGCTACAACAGGCTTCAGAGT c.960
M A A L Q S Y P G L S D S G Y N R L Q S p.320
. . . . . . g.109354
GGCACCACTTCAGCCACTCAGCCCTCTGAAACCTTCATGCCTCAGAGGACTCCATCCCTG c.1020
G T T S A T Q P S E T F M P Q R T P S L p.340
. . . . . . g.109414
ATCTCAGGAATACCAACTCCTCCCTCGTTGCCTGGCAACAGCAAGATGGAAGCCTACGGT c.1080
I S G I P T P P S L P G N S K M E A Y G p.360
. . . . . . g.109474
GGCCAGCTGGGGTCCTTTCCCACTTCCCAGTTTCAGTATGTCATGCAGGCAGGCAATGCT c.1140
G Q L G S F P T S Q F Q Y V M Q A G N A p.380
. . . . . . g.109534
GCCTCCAGCTCCTCATCACCACACATGTTCGGGGGCAGCCACATGCAGCAGAGCTCCTAC c.1200
A S S S S S P H M F G G S H M Q Q S S Y p.400
. . . . . . g.109594
AATGCCTTCTCCCTTCACAACCCTTACAACCTGTATGGATACAATTTCCCCACTTCCCCT c.1260
N A F S L H N P Y N L Y G Y N F P T S P p.420
. . . . . . g.109654
AGGCTAGCTGCAAGCCCGGAAAAACTGAGCGCCTCTCAAAGCACTTTACTCTGTTCTTCT c.1320
R L A A S P E K L S A S Q S T L L C S S p.440
. . . . . . g.109714
CCTTCCAACGGGGCCTTTGGAGAGAGGCAGTACCTGCCGTCAGGGATGGAGCACAGCATG c.1380
P S N G A F G E R Q Y L P S G M E H S M p.460
. . . . . . g.109774
CACATGATTAGCCCTTCACCCAATAACCAACAGGCAACCAACACTTGTGATGGCCGGCAG c.1440
H M I S P S P N N Q Q A T N T C D G R Q p.480
. . . . . g.109825
TATGGGGCAGTTCCAGGCTCCTCCTCCCAGATGTCCGTGCACATGGTTTAA c.1491
Y G A V P G S S S Q M S V H M V X p.496
. . . . . . g.109885
aggccagtccaaacaccacggagcatttggcaatcaaggccccagagtctccgtggtcag c.*60
. . . . . . g.109945
atcctcctctttgggagtccagtgtctttgaaaaacaggaaccgtgtttttttttttttt c.*120
. . . . . . g.110005
ttttttctggccgaagacatatacccaagaacaagagatacctttaagccagtgaaggat c.*180
. . . . . . g.110065
acttgcgatagaatcatccgcaactcagtggccattcttctgccttcccagaccttagtt c.*240
. . . . . . g.110125
ttataaagcattgtctgttccagagtggcctttgaagagactgaataatcacttcgtcat c.*300
. . . . . . g.110185
aatgttaagggagatgctagtgtgtggcagccatgaaaagttacacatacacacccacat c.*360
. . . . . . g.110245
acagacagacctacctatacatacgtgcacacacacatacatattcatacacaattcata c.*420
. . . . . . g.110305
cacatgcaatcatacatgcacactgactctgaactgggtgaactctgtggagggaggccc c.*480
. . . . . . g.110365
agaatgggtgctttcaccaagaatttgtctgtgtacaactctagatggagtgggccagca c.*540
. . . . . . g.110425
gtagctgccagtctttctcccctgcagcttcctctgcttctggaatgaaccatgtatcct c.*600
. . . . . . g.110485
ggagaccctcccaatggatgagagtggaaagacatcagtacaactggacttggcttccgg c.*660
. . . . . . g.110545
aaaaagattgcttttgaactttggctctcttcacttgtatgctatcattgatattcccag c.*720
. . . . . . g.110605
tggtgcccgtggaaagagggagaaagagaagctgaacaggagaaagacaaacagaaagaa c.*780
. . . . . . g.110665
tagagaacaggaacgaggtggagagcaagactgacagagaaagtgtgagcaatgatgaga c.*840
. . . . . . g.110725
attttaattcaccaaggagacgtgtttttggtttgtccccccaaaccccgcccgccccac c.*900
. . . . . . g.110785
tacaggttatggaaagaatcatggcattactgaggagtaaacctctctggcacactgagc c.*960
. . . . . . g.110845
atggtcagggcattggtcagagggacagagcaaggaatgcatcctgagcccacagctttg c.*1020
. . . . . . g.110905
accactgtgatccagaagagaggtgcactacgtgggaagtgctgattccacagcatgcag c.*1080
. . . . . . g.110965
cctggtaggggaaggaaaataaaagggtgtgaagaaggaatagttttataatctcggaag c.*1140
. . . . . . g.111025
atgataccaagagcagaggcaacaaatagaggcctggcctccaggtgccggatccagaca c.*1200
. . . . . . g.111085
cctgacctagaatgcctgcccgctatccctgtggcaggaaatatcccctcatgtcccagg c.*1260
. . . . . . g.111145
gaattgcagatgggtcttctatacccttctacctgcccttagatctccatttttatcaaa c.*1320
. . . . . . g.111205
tagtacattgcattttgaagttttgggttttgtccttcatctttccctttcccttcaaat c.*1380
. . . . . . g.111265
cttttaatggtaagaaagcaagtgaagcttggtgcaagctaaaatttttaaatggtgtgg c.*1440
. . . . . . g.111325
aaatgcaaataataccaagtaaaataatacagatattattaaagtttctggttttgaggt c.*1500
. . . . . . g.111385
gttgtagataaatgtatttatgtgcctagtggggaatccaatattatgaatatgaaaaag c.*1560
. . . . . . g.111445
ggggcaataaaagggtatgtaaaatatgtatgaagaaaaggtgtacaaaaatttgccctt c.*1620
. . . . . . g.111505
atgcacggaactctgtttctaagtgccaagcacagaaagccgctaaataaaatctttgca c.*1680
g.111514
attgttttc c.*1689
(downstream sequence)
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