(used for variant description)
(last modified July 24, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005515.3 in the MNX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013212.1, covering MNX1 transcript NM_005515.3.
(upstream sequence)
g.5003
cag c.-301
. . . . . . g.5063
cggcctccgcgcggtcgcctgagggctgcagcgcaaagaaccgggctcccgggcccggac c.-241
. . . . . . g.5123
gcggggaagcactcgcgtgggagtttgtgcgagcgcggcccggggcggggcccgcacgga c.-181
. . . . . . g.5183
ggaggcgccgggaccatggtcaccctcggctgagtttccggcggcgactttgattattgg c.-121
. . . . . . g.5243
caaataaccaccataacaataccgagcccccgggcttgcaccgcacgcactgactccgcg c.-61
. . . . . . g.5303
agcccgcacacggccgcgtcgcccgccaccgggccctgagcgccagccccaaacgagccg c.-1
. . . . . . g.5363
ATGGAAAAATCCAAAAATTTCCGCATCGACGCCCTGCTGGCGGTGGACCCCCCACGAGCC c.60
M E K S K N F R I D A L L A V D P P R A p.20
. . . . . . g.5423
GCCTCTGCGCAGAGCGCGCCGCTGGCCTTGGTCACGTCGCTCGCCGCCGCCGCATCTGGC c.120
A S A Q S A P L A L V T S L A A A A S G p.40
. . . . . . g.5483
ACCGGAGGTGGCGGCGGCGGCGGCGGGGCGAGCGGCGGGACTAGCGGCAGCTGCAGCCCC c.180
T G G G G G G G G A S G G T S G S C S P p.60
. . . . . . g.5543
GCGTCCTCGGAGCCGCCGGCTGCGCCCGCCGACCGCCTGCGCGCCGAGAGCCCGTCGCCG c.240
A S S E P P A A P A D R L R A E S P S P p.80
. . . . . . g.5603
CCGCGCCTGCTGGCCGCGCACTGCGCGCTGCTGCCCAAGCCGGGCTTCCTGGGCGCGGGC c.300
P R L L A A H C A L L P K P G F L G A G p.100
. . . . . . g.5663
GGCGGCGGCGGCGGCACGGGCGGCGGGCACGGGGGGCCCCACCACCACGCGCATCCGGGC c.360
G G G G G T G G G H G G P H H H A H P G p.120
. . . . . . g.5723
GCAGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGGGGGCCTGGCGCTGGGG c.420
A A A A A A A A A A A A A A G G L A L G p.140
. . . . . . g.5783
CTGCACCCTGGGGGCGCGCAGGGCGGCGCGGGCCTCCCGGCGCAGGCGGCGCTCTACGGC c.480
L H P G G A Q G G A G L P A Q A A L Y G p.160
. . . . . . g.5843
CACCCGGTCTACGGCTACTCCGCGGCGGCGGCGGCGGCTGCGCTGGCGGGCCAGCACCCG c.540
H P V Y G Y S A A A A A A A L A G Q H P p.180
. . . . . . g.5903
GCGCTCTCCTACTCGTACCCGCAGGTGCAAGGCGCGCACCCCGCGCACCCCGCCGACCCC c.600
A L S Y S Y P Q V Q G A H P A H P A D P p.200
. . . . . . g.5963
ATCAAGCTGGGCGCCGGCACCTTCCAGCTGGACCAGTGGCTGCGCGCGTCCACCGCGGGC c.660
I K L G A G T F Q L D Q W L R A S T A G p.220
. . . | 02 . . . g.9043
ATGATCCTGCCTAAGATGCCCGACTTCAACT | CCCAGGCGCAGTCGAACCTCCTGGGGAAG c.720
M I L P K M P D F N S | Q A Q S N L L G K p.240
. . . . . . g.9103
TGCCGCCGGCCGCGCACCGCCTTCACCAGCCAGCAGCTGCTGGAGCTGGAGCACCAGTTC c.780
C R R P R T A F T S Q Q L L E L E H Q F p.260
. . . . . . g.9163
AAGCTCAACAAGTACCTGTCGCGGCCCAAGCGCTTCGAGGTGGCCACCTCGCTCATGCTC c.840
K L N K Y L S R P K R F E V A T S L M L p.280
. | 03 . . . . . g.9828
ACCGAGACCCAG | GTGAAGATTTGGTTCCAGAACCGGCGGATGAAATGGAAACGCAGCAAA c.900
T E T Q | V K I W F Q N R R M K W K R S K p.300
. . . . . . g.9888
AAGGCCAAAGAGCAGGCGGCGCAGGAAGCGGAGAAACAGAAGGGCGGCGGCGGGGGCGCG c.960
K A K E Q A A Q E A E K Q K G G G G G A p.320
. . . . . . g.9948
GGGAAGGGCGGCGCGGAGGAGCCGGGAGCCGAGGAGCTGCTGGGGCCGCCAGCGCCCGGA c.1020
G K G G A E E P G A E E L L G P P A P G p.340
. . . . . . g.10008
GACAAGGGCAGCGGACGCCGCCTGCGGGACTTGAGGGACAGTGACCCCGAGGAGGACGAG c.1080
D K G S G R R L R D L R D S D P E E D E p.360
. . . . . . g.10068
GACGAGGACGACGAGGACCATTTCCCCTACAGCAACGGCGCCAGCGTCCACGCCGCCTCC c.1140
D E D D E D H F P Y S N G A S V H A A S p.380
. . . . . . g.10128
TCCGACTGCTCCTCGGAGGACGACTCGCCGCCCCCGCGGCCCAGCCACCAGCCCGCGCCC c.1200
S D C S S E D D S P P P R P S H Q P A P p.400
g.10134
CAGTAG c.1206
Q X p.401
. . . . . . g.10194
gagccccgcggcccagcaggtgcggcgcgcacggagcgccccggccggcggcttctcccg c.*60
. . . . . . g.10254
gaggccccggcgcccgcacccacccggcccggccccgagagcaggctcgaccgccgcccc c.*120
. . . . . . g.10314
atggacccctcgcccaggccggggctggagggattcggccgcggctccggtcctgggcgc c.*180
. . . . . . g.10374
ttcccttttaagcaagggcgcctcacctgctcttcaagaaacagcgagagggagacccag c.*240
. . . . . . g.10434
ggggctgaaacttgaactctggttcttttaaaattaattttggttggtgttgggggaggc c.*300
. . . . . . g.10494
gcgagtgcgtgtgagaagaaccgacccaccccgcgcaaggggaagcctcctgtctcccct c.*360
. . . . . . g.10554
ttccccgcgtccgagaaggcggaaacccacagtgttacctgacttatgaaacttgaaacc c.*420
. . . . . . g.10614
gcctctggagccgccattctgcagagtatttggaaaaagaaaaaagggtttatgcttacg c.*480
. . . . . . g.10674
tctctggggtcggggggattatgtcacgagcgttcaaactgctggaaatctcaaaactgt c.*540
. . . . . . g.10734
actgtctttatttttgtatattgtatttatatataaaaagaaacgtctacgtatgcatgc c.*600
. . . . . . g.10794
taaattattatttagcttctcccatcgcccacgatggaatgtaaaataaattggttttgt c.*660
g.10801
actggat c.*667
(downstream sequence)
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