(used for variant description)
(last modified March 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001007565.2 in the TFG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027821.1, covering TFG transcript NM_001007565.2.
(upstream sequence)
g.5005
tggtc c.-181
. . . . . . g.5065
acgccccgcgcatgcgtgcatcggggcagctcacgcttcctaaatcccgtcatccagtga c.-121
. . . . . . g.5125
gaaagcagggactcttcggcctaggcagccgggacccagccagccctgcgcctcgcgccg c.-61
. . | 02 . . . . g.9396
tcgcgcatgcgtcctgg | tctttctctagagttgtatatatagaacatcctggagtccacc c.-1
. . . . . . g.9456
ATGAACGGACAGTTGGATCTAAGTGGGAAGCTAATCATCAAAGCTCAACTTGGGGAGGAT c.60
M N G Q L D L S G K L I I K A Q L G E D p.20
. . . . . . g.9516
ATTCGGCGAATTCCTATTCATAATGAAGATATTACTTATGATGAATTAGTGCTAATGATG c.120
I R R I P I H N E D I T Y D E L V L M M p.40
. . . . . . g.9576
CAACGAGTTTTCAGAGGAAAACTTCTGAGTAATGATGAAGTAACAATAAAGTATAAAGAT c.180
Q R V F R G K L L S N D E V T I K Y K D p.60
| 03 . . . . . . g.15741
GAAG | ATGGAGATCTTATAACAATTTTTGATAGTTCTGACCTTTCCTTTGCAATTCAGTGC c.240
E D | G D L I T I F D S S D L S F A I Q C p.80
. . | 04 . . . g.24454
AGTAGGATACTGAAACTGACATTATTTG | TTAATGGCCAGCCAAGACCCCTTGAATCAAGT c.300
S R I L K L T L F V | N G Q P R P L E S S p.100
. . . . . . g.24514
CAGGTGAAATATCTCCGTCGAGAACTGATAGAACTTCGAAATAAAGTGAATCGTTTATTG c.360
Q V K Y L R R E L I E L R N K V N R L L p.120
. . . . . | 05 . g.28223
GATAGCTTGGAACCACCTGGAGAACCAGGACCTTCCACCAATATTCCTGAAAATG | ATACT c.420
D S L E P P G E P G P S T N I P E N D | T p.140
. . . . . . g.28283
GTGGATGGTAGGGAAGAAAAGTCTGCTTCTGATTCTTCTGGAAAACAGTCTACTCAGGTT c.480
V D G R E E K S A S D S S G K Q S T Q V p.160
. . . . . . g.28343
ATGGCAGCAAGTATGTCTGCTTTTGATCCTTTAAAAAACCAAGATGAAATCAATAAAAAT c.540
M A A S M S A F D P L K N Q D E I N K N p.180
. . . . | 06 . . g.32306
GTTATGTCAGCGTTTGGCTTAACAGATGATCAGGTTTCAG | GGCCACCCAGTGCTCCTGCA c.600
V M S A F G L T D D Q V S G | P P S A P A p.200
. . . . . . g.32366
GAAGATCGTTCAGGAACACCCGACAGCATTGCTTCCTCCTCCTCAGCAGCTCACCCACCA c.660
E D R S G T P D S I A S S S S A A H P P p.220
. . . . . . g.32426
GGCGTTCAGCCACAGCAGCCACCATATACAGGAGCTCAGACTCAAGCAGGTCAGATTGAA c.720
G V Q P Q Q P P Y T G A Q T Q A G Q I E p.240
| 07 . . . . . . g.40602
G | GTCAGATGTACCAACAGTACCAGCAACAGGCCGGCTATGGTGCACAGCAGCCGCAGGCT c.780
G | Q M Y Q Q Y Q Q Q A G Y G A Q Q P Q A p.260
. . . . | 08 . . g.43879
CCACCTCAGCAGCCTCAACAGTATGGTATTCAGTATTCAG | CAAGCTATAGTCAGCAGACT c.840
P P Q Q P Q Q Y G I Q Y S A | S Y S Q Q T p.280
. . . . . . g.43939
GGACCTCAACAACCTCAGCAGTTCCAGGGATATGGCCAGCAACCAACTTCCCAGGCACCA c.900
G P Q Q P Q Q F Q G Y G Q Q P T S Q A P p.300
. . . . . . g.43999
GCTCCTGCCTTTTCTGGTCAGCCTCAACAACTGCCTGCTCAGCCGCCACAGCAGTACCAG c.960
A P A F S G Q P Q Q L P A Q P P Q Q Y Q p.320
. . . . . . g.44059
GCGAGCAATTATCCTGCACAAACTTACACTGCCCAAACTTCTCAGCCTACTAATTATACT c.1020
A S N Y P A Q T Y T A Q T S Q P T N Y T p.340
. . . . . . g.44119
GTGGCTCCTGCCTCTCAACCTGGAATGGCTCCAAGCCAACCTGGGGCCTATCAACCAAGA c.1080
V A P A S Q P G M A P S Q P G A Y Q P R p.360
. . . . . . g.44179
CCAGGTTTTACTTCACTTCCTGGAAGTACCATGACCCCTCCTCCAAGTGGGCCTAATCCT c.1140
P G F T S L P G S T M T P P P S G P N P p.380
. . . . . . g.44239
TATGCGCGTAACCGTCCTCCCTTTGGTCAGGGCTATACCCAACCTGGACCTGGTTATCGA c.1200
Y A R N R P P F G Q G Y T Q P G P G Y R p.400
g.44242
TAA c.1203
X p.400
. . . . . . g.44302
ggaggctcctctacaccaattaatgtagctgctagctattggcctcccaaaagactccag c.*60
. . . . . . g.44362
tactattttaatttgtattgaagaagttcagaaatttaaaagcagagcattttttatgat c.*120
. . . . . . g.44422
atcattgttggtgttaattgaaagtataatttgctggaacacaaagaccaaaatgaaagt c.*180
. . . . . . g.44482
tttttcctccctgcttaaaaatgtagcagcttcttagttactttggaacactactcttac c.*240
. . . . . . g.44542
atgtataaagtgattgacttgactttctagcttcccttgtccggaggatattaaaatgct c.*300
. . . . . . g.44602
agggtgaggtttagccatcttacttggctttttactattaacatgatgtactaaagtaga c.*360
. . . . . . g.44662
gccctttgagaatacaagatattatgtataaaatgtaacactgatgataggttaataaag c.*420
. g.44678
atgattgaatccatta c.*436
(downstream sequence)
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