(used for variant description)
(last modified January 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_002500.4 in the NEUROD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011820.3, covering NEUROD1 transcript NM_002500.4.
(upstream sequence)
g.5007
ggggagg c.-241
. . . . . . g.5067
aggggagaacggggagcgcacagcctggacgcgtgcgcaggcgtcaggcgcatagacctg c.-181
. . . . . . g.5127
ctagcccctcagctagcggccccgcccgcgcttagcatcactaactgggctatataacct c.-121
. . . . . . g.5187
gagcgcccgcgcggccacgacacgaggaattcgcccacgcaggaggcgcggcgtccggag c.-61
. . . . . | 02 g.6805
gccccagggttatgagactatcactgctcaggacctactaacaacaaag | gaaatcgaaac c.-1
. . . . . . g.6865
ATGACCAAATCGTACAGCGAGAGTGGGCTGATGGGCGAGCCTCAGCCCCAAGGTCCTCCA c.60
M T K S Y S E S G L M G E P Q P Q G P P p.20
. . . . . . g.6925
AGCTGGACAGACGAGTGTCTCAGTTCTCAGGACGAGGAGCACGAGGCAGACAAGAAGGAG c.120
S W T D E C L S S Q D E E H E A D K K E p.40
. . . . . . g.6985
GACGACCTCGAAACCATGAACGCAGAGGAGGACTCACTGAGGAACGGGGGAGAGGAGGAG c.180
D D L E T M N A E E D S L R N G G E E E p.60
. . . . . . g.7045
GACGAAGATGAGGACCTGGAAGAGGAGGAAGAAGAGGAAGAGGAGGATGACGATCAAAAG c.240
D E D E D L E E E E E E E E E D D D Q K p.80
. . . . . . g.7105
CCCAAGAGACGCGGCCCCAAAAAGAAGAAGATGACTAAGGCTCGCCTGGAGCGTTTTAAA c.300
P K R R G P K K K K M T K A R L E R F K p.100
. . . . . . g.7165
TTGAGACGCATGAAGGCTAACGCCCGGGAGCGGAACCGCATGCACGGACTGAACGCGGCG c.360
L R R M K A N A R E R N R M H G L N A A p.120
. . . . . . g.7225
CTAGACAACCTGCGCAAGGTGGTGCCTTGCTATTCTAAGACGCAGAAGCTGTCCAAAATC c.420
L D N L R K V V P C Y S K T Q K L S K I p.140
. . . . . . g.7285
GAGACTCTGCGCTTGGCCAAGAACTACATCTGGGCTCTGTCGGAGATCCTGCGCTCAGGC c.480
E T L R L A K N Y I W A L S E I L R S G p.160
. . . . . . g.7345
AAAAGCCCAGACCTGGTCTCCTTCGTTCAGACGCTTTGCAAGGGCTTATCCCAACCCACC c.540
K S P D L V S F V Q T L C K G L S Q P T p.180
. . . . . . g.7405
ACCAACCTGGTTGCGGGCTGCCTGCAACTCAATCCTCGGACTTTTCTGCCTGAGCAGAAC c.600
T N L V A G C L Q L N P R T F L P E Q N p.200
. . . . . . g.7465
CAGGACATGCCCCCCCACCTGCCGACGGCCAGCGCTTCCTTCCCTGTACACCCCTACTCC c.660
Q D M P P H L P T A S A S F P V H P Y S p.220
. . . . . . g.7525
TACCAGTCGCCTGGGCTGCCCAGTCCGCCTTACGGTACCATGGACAGCTCCCATGTCTTC c.720
Y Q S P G L P S P P Y G T M D S S H V F p.240
. . . . . . g.7585
CACGTTAAGCCTCCGCCGCACGCCTACAGCGCAGCGCTGGAGCCCTTCTTTGAAAGCCCT c.780
H V K P P P H A Y S A A L E P F F E S P p.260
. . . . . . g.7645
CTGACTGATTGCACCAGCCCTTCCTTTGATGGACCCCTCAGCCCGCCGCTCAGCATCAAT c.840
L T D C T S P S F D G P L S P P L S I N p.280
. . . . . . g.7705
GGCAACTTCTCTTTCAAACACGAACCGTCCGCCGAGTTTGAGAAAAATTATGCCTTTACC c.900
G N F S F K H E P S A E F E K N Y A F T p.300
. . . . . . g.7765
ATGCACTATCCTGCAGCGACACTGGCAGGGGCCCAAAGCCACGGATCAATCTTCTCAGGC c.960
M H Y P A A T L A G A Q S H G S I F S G p.320
. . . . . . g.7825
ACCGCTGCCCCTCGCTGCGAGATCCCCATAGACAATATTATGTCCTTCGATAGCCATTCA c.1020
T A A P R C E I P I D N I M S F D S H S p.340
. . . . . g.7876
CATCATGAGCGAGTCATGAGTGCCCAGCTCAATGCCATATTTCATGATTAG c.1071
H H E R V M S A Q L N A I F H D X p.356
. . . . . . g.7936
aggcacgccagtttcaccatttccgggaaacgaacccactgtgcttacagtgactgtcgt c.*60
. . . . . . g.7996
gtttacaaaaggcagccctttgggtactactgctgcaaagtgcaaatactccaagcttca c.*120
. . . . . . g.8056
agtgatatatgtatttattgtcattactgcctttggaagaaacaggggatcaaagttcct c.*180
. . . . . . g.8116
gttcaccttatgtattattttctatagctcttctatttaaaaaataaaaaaatacagtaa c.*240
. . . . . . g.8176
agtttaaaaaatacaccacgaatttggtgtggctgtattcagatcgtattaattatctga c.*300
. . . . . . g.8236
tcgggataacaaaatcacaagcaataattaggatctatgcaatttttaaactagtaatgg c.*360
. . . . . . g.8296
gccaattaaaatatatataaatatatatttttcaaccagcattttactacttgttacctt c.*420
. . . . . . g.8356
tcccatgctgaattattttgttgtgattttgtacagaatttttaatgactttttataatg c.*480
. . . . . . g.8416
tggatttcctattttaaaaccatgcagcttcatcaatttttatacatatcagaaaagtag c.*540
. . . . . . g.8476
aattatatctaatttatacaaaataatttaactaatttaaaccagcagaaaagtgcttag c.*600
. . . . . . g.8536
aaagttattgtgttgccttagcacttctttcctctccaattgtaaaaaaaaaaaaaaaaa c.*660
. . . . . . g.8596
aaaaaaaaaaaaaaaaattgcacaatttgagcaattcatttcactttaaagtctttccgt c.*720
. . . . . . g.8656
ctccctaaaataaaaaccagaatcataattttcaagagaagaaaaaattaagagatacat c.*780
. . . . . . g.8716
tccctatcaaaacatatcaattcaacacattacttgcacaagcttgtatatacatattat c.*840
. . . . . . g.8776
aaataaatgccaacatacccttctttaaatcaaaagctgcttgactatcacatacaattt c.*900
. . . . . . g.8836
gcactgttactttttagtcttttactcctttgcattccatgattttacagagaatctgaa c.*960
. . . . . . g.8896
gctattgatgtttccagaaaatataaatgcatgattttatacatagtcacaaaaatggtg c.*1020
. . . . . . g.8956
gtttgtcatatattcatgtaataaatctgagcctaaatctaatcaggttgttaatgttgg c.*1080
. . . . . . g.9016
gatttatatctatagtagtcaattagtacagtagcttaaataaattcaaaccatttaatt c.*1140
. . . . . . g.9076
cataattagaacaatagctattgcatgtaaaatgcagtccagaataagtgctgtttgaga c.*1200
. . . . . . g.9136
tgtgatgctggtaccactggaatcgatctgtactgtaattttgtttgtaatcctgtatat c.*1260
. . . . . . g.9196
tatggtgtaatgcacaatttagaaaacattcatccagttgcaataaaatagtattgaaag c.*1320
. . . . . . g.9256
tgagagcaattgttgcatttcttcttaaagggattctgtttttatttttggggaaagtag c.*1380
. . . . . . g.9316
ttgcttttttgctgagttaaaaaatactaaacactatatgtagaataaaagaaaagaaaa c.*1440
. . . . . . g.9376
aagtttaccttggcatatgctcttgtctgtttatcttgcacagggagtcaccagttctat c.*1500
. . . . . . g.9436
gtagataatgaaaagacctaactgatatttcattatttggaatatgggactggacggcag c.*1560
. . . . . . g.9496
tacaaacagtgtgtttttttctttgttttaagtggcttagcctttaggttttttatttcc c.*1620
. . . . . . g.9556
atttttaaaaatgattgttacatgttttcttctatttctttttttaaaaggtggatttta c.*1680
g.9560
ataa c.*1684
(downstream sequence)
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