(used for variant description)
(last modified December 27, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001143986.1 in the TLE6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering TLE6 transcript NM_001143986.1.
(upstream sequence)
. . . . g.5049
aaatggcccccggtgggggaaggaggagtttcctcttggcctgaacttg c.-61
. . . | 02 . . . g.5696
gctgacctccgcagcttccgcccg | actctggctaaagtcttggaggctactgccttgaag c.-1
. . . . . | 03 . g.7571
ATGACCTCTAGGGACCAGCCCAGACCCAAGGGCCCCCCGAAAAGCACTTCG | CCTTGTCCT c.60
M T S R D Q P R P K G P P K S T S | P C P p.20
. . . . . . g.7631
GGGATCTCGAACTCTGAGAGCTCTCCGACGCTGAATTATCAGGGCATTCTAAATCGGCTC c.120
G I S N S E S S P T L N Y Q G I L N R L p.40
. | 04 . . . . . g.9046
AAGCAGTTCCCCAG | GTTTTCTCCTCATTTTGCTGCGGAGTTGGAGAGCATTTACTACTCG c.180
K Q F P R | F S P H F A A E L E S I Y Y S p.60
| 05 . . . . | 06 . . g.14309
| CTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAG | ATAGGAAACGTCTTACAG c.240
| L H K I Q Q D V A E H H K Q | I G N V L Q p.80
. . . . | 07 . . g.14460
ATTGTGGAGAGCTGCAGCCAACTCCAGGGTTTCCAGTCTGAGGAG | GTCTCACCTGCTGAA c.300
I V E S C S Q L Q G F Q S E E | V S P A E p.100
. . . . . . g.14520
CCAGCCAGCCCTGGGACGCCCCAGCAGGTGAAGGACAAGACCCTGCAGGAGTCGAGCTTT c.360
P A S P G T P Q Q V K D K T L Q E S S F p.120
. . . . . . g.14580
GAGGACATCATGGCCACCAGGTCCTCCGACTGGCTCCGGCGGCCTTTGGGGGAGGACAAT c.420
E D I M A T R S S D W L R R P L G E D N p.140
. . . . . . g.14640
CAGCCGGAGACCCAGCTGTTCTGGGACAAGGAGCCTTGGTTTTGGCACGACACTCTGACC c.480
Q P E T Q L F W D K E P W F W H D T L T p.160
. . . . . . g.14700
GAGCAACTCTGGCGGATTTTTGCCGGCGTCCACGATGAGAAGGCAAAGCCCAGAGACAGA c.540
E Q L W R I F A G V H D E K A K P R D R p.180
| 08 . | 09 . . . . g.15228
C | AGCAGGCACCAGGCCTG | GGGCAGGAAAGCAAGGCACCAGGATCCTGTGACCCAGGAACA c.600
Q | Q A P G L | G Q E S K A P G S C D P G T p.200
. . | 10 . . . . g.15395
GACCCATGTCCTGAAGATGCCTCCA | CCCCCAGGCCACCTGAGGCCTCCTCCAGTCCCCCT c.660
D P C P E D A S T | P R P P E A S S S P P p.220
. . . . | 11 . . g.15571
GAGGGTTCCCAAGACAGGAACACAAGTTGGGGTGTGGTCCAG | GAGCCTCCTGGAAGAGCC c.720
E G S Q D R N T S W G V V Q | E P P G R A p.240
. . | 12 . . . . g.16563
TCTCGGTTTCTACAGTCCAT | ATCCTGGGACCCTGAGGACTTTGAAGATGCATGGAAGAGG c.780
S R F L Q S I | S W D P E D F E D A W K R p.260
. . . . . . g.16623
CCAGATGCCTTGCCCGGGCAGTCAAAGAGACTCGCCGTCCCGTGCAAACTGGAAAAGATG c.840
P D A L P G Q S K R L A V P C K L E K M p.280
. . . . . . g.16683
CGGATCTTGGCACACGGGGAGCTCGTGCTCGCCACGGCCATCAGCAGCTTCACGCGGCAC c.900
R I L A H G E L V L A T A I S S F T R H p.300
. . . . . . g.16743
GTGTTCACCTGTGGCAGAAGAGGCATCAAGGTGTGGAGCCTGACTGGACAGGTGGCTGAG c.960
V F T C G R R G I K V W S L T G Q V A E p.320
. . . | 13 . . . g.17024
GACAGGTTCCCTGAGAGCCACCTGCCTATACAG | ACCCCTGGGGCCTTCCTGCGCACCTGC c.1020
D R F P E S H L P I Q | T P G A F L R T C p.340
. . . . . . g.17084
CTGCTGTCCTCAAACAGCAGGAGCCTGCTCACCGGTGGCTACAACCTGGCCAGCGTGAGC c.1080
L L S S N S R S L L T G G Y N L A S V S p.360
. . . . . . g.17144
GTGTGGGACCTGGCGGCGCCCTCCCTGCATGTGAAGGAGCAGTTGCCCTGTGCAGGTCTC c.1140
V W D L A A P S L H V K E Q L P C A G L p.380
. . . . . . g.17204
AACTGCCAGGCCCTGGATGCCAACCTGGATGCCAACCTGGCCTTCGCCAGCTTCACCAGT c.1200
N C Q A L D A N L D A N L A F A S F T S p.400
. . . . | 14 . . g.19321
GGTGTGGTCAGGATCTGGGACCTGCGGGATCAGAGTGTGGTCAG | GGACCTCAAGGGTTAT c.1260
G V V R I W D L R D Q S V V R | D L K G Y p.420
. . . . . . g.19381
CCTGATGGAGTCAAGAGTATCGTGGTCAAGGGCTACAACATCTGGACTGGGGGTCCGGAT c.1320
P D G V K S I V V K G Y N I W T G G P D p.440
. . . . . . g.19441
GCCTGTCTGCGGTGCTGGGACCAGAGGACCATCATGAAACCTCTGGAGTACCAATTCAAG c.1380
A C L R C W D Q R T I M K P L E Y Q F K p.460
| 15 . . . . . . g.20948
TCTCAG | ATAATGAGCCTGTCCCACAGCCCCCAGGAGGACTGGGTGCTGCTGGGCATGGCC c.1440
S Q | I M S L S H S P Q E D W V L L G M A p.480
. . . . . . g.21008
AATGGCCAGCAGTGGCTGCAAAGCACCAGCGGGAGCCAGCGGCACATGGTGGGGCAAAAA c.1500
N G Q Q W L Q S T S G S Q R H M V G Q K p.500
. . . | 16. . . g.21504
GACAGCGTCATCCTGAGCGTCAAGTTCTCCCCCTTTG | GCCAGTGGTGGGCAAGCGTTGGA c.1560
D S V I L S V K F S P F G | Q W W A S V G p.520
. . . . . | 17 . g.22368
ATGGACGACTTCCTTGGCGTCTACAGCATGCCGGCGGGGACAAAAGTGTTCGAG | GTGCCT c.1620
M D D F L G V Y S M P A G T K V F E | V P p.540
. . . . . . g.22428
GAGATGTCTCCAGTCACGTGCTGTGACGTCTCTTCCAACAACCGCCTCGTTGTCACAGGC c.1680
E M S P V T C C D V S S N N R L V V T G p.560
. . . g.22467
TCCGGGGAGCACGCCTCCGTGTACCAGATCACCTACTGA c.1719
S G E H A S V Y Q I T Y X p.572
. . . . . . g.22527
ggggcctcgctgctgtcatcccactccggctcctcttttcatccccccccttcccccccc c.*60
. . . . . . g.22587
ccaacaagggggacatggtggagggaagcgggaaggctcttctgtggcatcgcacgatct c.*120
. . . . . . g.22647
agtctgtggtgtagactggtcgccatcacgtgtaataaagcacccgggaaaggcagagtg c.*180
(downstream sequence)
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