(used for variant description)
(last modified August 23, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003413.3 in the ZIC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering ZIC3 transcript NM_003413.3.
(upstream sequence)
. . g.5025
gcggcgagtaacgagcctgcctact c.-481
. . . . . . g.5085
gcccgctgcccgcctgcccggccgctagccggctccgccacttggcgcagcccagcccgg c.-421
. . . . . . g.5145
aggccggtacccagggagcctcctggccccgcggttctgtgcactcggggagaggagggg c.-361
. . . . . . g.5205
tgcccgggacaggattggcaaactccgccctccacttactattttgcttatttttctttg c.-301
. . . . . . g.5265
tgcgcgcctgttagtttgttaaaccagatctagtccgagtcttttctcctcccttctcct c.-241
. . . . . . g.5325
ccctcctcctccccccgccaacaccccctccctgctctttcttcccctcctccctcctat c.-181
. . . . . . g.5385
ccctctgcaggagactcttgcagtgacggaaagttgcagcccctggtagcgccttggggg c.-121
. . . . . . g.5445
tctccccgcagtgtccaaccgccgccacccctttccgactacggcacttcggagatctcc c.-61
. . . . . . g.5505
tccttcgccggtaccctctctcacttcggccggatcgcctgtgcccagaacgtcccaccc c.-1
. . . . . . g.5565
ATGACGATGCTCCTGGACGGAGGCCCGCAGTTCCCTGGGCTGGGAGTGGGCAGCTTCGGC c.60
M T M L L D G G P Q F P G L G V G S F G p.20
. . . . . . g.5625
GCGCCGCGCCACCACGAGATGCCCAACCGTGAGCCGGCAGGCATGGGGCTGAATCCCTTC c.120
A P R H H E M P N R E P A G M G L N P F p.40
. . . . . . g.5685
GGGGACTCAACCCACGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCTTCAAGCTGAGCCCT c.180
G D S T H A A A A A A A A A A F K L S P p.60
. . . . . . g.5745
GCCGCGGCGCACGATCTATCTTCAGGCCAGAGCTCGGCTTTCACGCCGCAGGGTTCGGGC c.240
A A A H D L S S G Q S S A F T P Q G S G p.80
. . . . . . g.5805
TACGCCAACGCCCTGGGCCACCATCACCACCACCATCACCATCATCACCACACCAGCCAG c.300
Y A N A L G H H H H H H H H H H H T S Q p.100
. . . . . . g.5865
GTGCCCAGCTACGGTGGCGCTGCCTCTGCCGCCTTCAACTCAACGCGCGAGTTTCTGTTC c.360
V P S Y G G A A S A A F N S T R E F L F p.120
. . . . . . g.5925
CGCCAGCGCAGCTCCGGGCTCAGTGAGGCGGCCTCGGGTGGCGGGCAGCACGGGCTCTTC c.420
R Q R S S G L S E A A S G G G Q H G L F p.140
. . . . . . g.5985
GCCGGCTCGGCGAGCAGCCTGCATGCTCCAGCTGGCATCCCCGAGCCCCCTAGCTACTTG c.480
A G S A S S L H A P A G I P E P P S Y L p.160
. . . . . . g.6045
CTGTTTCCCGGGCTGCATGAGCAGGGCGCTGGGCACCCGTCGCCCACAGGGCACGTGGAC c.540
L F P G L H E Q G A G H P S P T G H V D p.180
. . . . . . g.6105
AACAACCAGGTCCACCTGGGGCTGCGTGGGGAGCTGTTCGGCCGTGCTGACCCATACCGC c.600
N N Q V H L G L R G E L F G R A D P Y R p.200
. . . . . . g.6165
CCAGTGGCCAGCCCGCGCACGGACCCCTACGCGGCCGGCGCTCAGTTTCCTAACTACAGC c.660
P V A S P R T D P Y A A G A Q F P N Y S p.220
. . . . . . g.6225
CCCATGAACATGAACATGGGAGTGAACGTGGCGGCCCACCACGGGCCCGGCGCCTTCTTC c.720
P M N M N M G V N V A A H H G P G A F F p.240
. . . . . . g.6285
CGTTATATGCGGCAGCCTATCAAGCAGGAGCTGTCGTGCAAGTGGATCGACGAGGCTCAG c.780
R Y M R Q P I K Q E L S C K W I D E A Q p.260
. . . . . . g.6345
CTGAGCCGGCCCAAGAAGAGCTGCGACCGGACCTTCAGCACCATGCATGAGCTGGTGACA c.840
L S R P K K S C D R T F S T M H E L V T p.280
. . . . . . g.6405
CATGTCACCATGGAGCATGTGGGGGGCCCGGAGCAGAACAACCACGTCTGCTACTGGGAG c.900
H V T M E H V G G P E Q N N H V C Y W E p.300
. . . . . . g.6465
GAGTGCCCCCGGGAGGGCAAGTCTTTCAAGGCGAAGTACAAACTGGTCAACCACATCCGA c.960
E C P R E G K S F K A K Y K L V N H I R p.320
. . . . . . g.6525
GTGCACACGGGCGAGAAGCCCTTCCCATGCCCCTTCCCGGGCTGCGGGAAGATCTTTGCC c.1020
V H T G E K P F P C P F P G C G K I F A p.340
. . . . | 02 . . g.7735
CGTTCTGAGAACCTCAAGATCCACAAGAGGACCCACACAG | GTGAGAAACCTTTCAAATGT c.1080
R S E N L K I H K R T H T G | E K P F K C p.360
. . . . . . g.7795
GAATTTGAAGGCTGTGACAGACGCTTTGCCAACAGCAGCGACCGTAAGAAGCACATGCAT c.1140
E F E G C D R R F A N S S D R K K H M H p.380
. . . . . . g.7855
GTGCATACCTCGGACAAGCCCTATATCTGCAAAGTGTGCGACAAGTCCTACACGCACCCG c.1200
V H T S D K P Y I C K V C D K S Y T H P p.400
. . | 03 . . . . g.8740
AGCTCCCTGCGCAAACACATGAAG | GTTCATGAATCTCAAGGGTCAGATTCCTCCCCTGCT c.1260
S S L R K H M K | V H E S Q G S D S S P A p.420
. . . . . . g.8800
GCCAGTTCAGGCTATGAATCTTCCACTCCACCCGCTATAGCTTCTGCAAACAGTAAAGAT c.1320
A S S G Y E S S T P P A I A S A N S K D p.440
. . . . . . g.8860
ACCACTAAAACCCCTTCTGCAGTTCAAACTAGCACCAGCCACAACCCTGGACTTCCTCCT c.1380
T T K T P S A V Q T S T S H N P G L P P p.460
. . g.8884
AATTTTAACGAATGGTACGTCTGA c.1404
N F N E W Y V X p.467
. . . . . . g.8944
ggacaaacacaaaccctgttaattatagaatggaccaaatacatttttaaaagaaaactg c.*60
. . . . . . g.9004
agaccaatcagatggaaatggagttttaaggcaagaggccatatatagggctacatcttg c.*120
. . . . . . g.9064
ttaattgcaattgtccaggaaggttttgggcaagatccaaaagtagccatgcccttttct c.*180
. . . . . . g.9124
caggatagaaaatatgttttggcatttgaagcattttttacaaaatctttacactacttt c.*240
. . . . . . g.9184
ttcttccccttcctcttgctctctgcacaccccattcttaaactcctccaattcatttta c.*300
. . . . . . g.9244
acacttgtcctgtttcttgagaggaagttatagaaggcttgttggtggtggtgatgttaa c.*360
. . . . . . g.9304
actgatggaaattctttttcgccttagtggtgattgtttaaactctcacagtcttaaacc c.*420
. . . . . . g.9364
gtgccaaagtcctgttatgtcttgaacttttcctcaaagcattacacttgtgaatgtatt c.*480
. . . . . . g.9424
tttgtctaatagggtcgaaactgttgttcagtattttttcaggctgaggatgtgatgtta c.*540
. . . . . . g.9484
ctctacacattgtgacgtttagtatacagttgccttttgtaataactttttttttgtaaa c.*600
. . . . . . g.9544
tacatatccattgatgccatatttatcgtttgtaatttaattattgctacaagtgccggg c.*660
. . . . . . g.9604
aactgaacaatatttatggataaatgttttctaacaaattctgtacagcttttgattata c.*720
. . . . . . g.9664
actgctttagcattaaaaattgttttgaaagaagaacacaatttacaattttggaaccac c.*780
. . . . . . g.9724
tgactcctttctcttgttttgtaacagccttcttctacaaagaggagatgtgagcaaatt c.*840
. . . . . . g.9784
aaatcttgtttgttggtatttataactcactcagatcccttttttaattgttaaattatt c.*900
. . . . . . g.9844
tttctattacagtataaattccttacagtgtcagtttccatctgggaagactctcctttc c.*960
. . . . . . g.9904
tttatctctatctcagatggttgtttaactgcgagtttaaatgtgtttgtcctggatttt c.*1020
. . . . . . g.9964
cggcatgcaaatcaaatattactgatcaattcagttagtggccatgacatctcaatcttg c.*1080
. . . . . . g.10024
tacttcaaagactgagaagctggatttaatcatccctgccctacatatataaacataagg c.*1140
. . . . . . g.10084
taacctactgaattttatgtcccttagttctttattaccttacataaaaatgaaaattgc c.*1200
. . . . . . g.10144
ggcaggatgcatgtctgtctgttctatctagagatcacccatatacctatatatgtttgt c.*1260
. . . . . . g.10204
atctatgacttatctaatctgcctatcaatctatctagtagctatctatatattttcaaa c.*1320
. . . . . . g.10264
agatagcttatgtctaaaacagtggtgatgagtaaggccagttgagcattgcttacttat c.*1380
. . . . . . g.10324
ggttaaagtgcttcttaaaagaaccatagtccatttacaattttggaaggcaaaggctga c.*1440
. . . . . . g.10384
tttgtttgctgtatatagttcaattcataattatcgcaattatccataacatttatatag c.*1500
. . . . . . g.10444
cggtgtaataactgcagcagttctgaaatgatgctatgggaaaaaaattgcaaaatatgt c.*1560
. . . . . . g.10504
atttttaaagttcatgatttgtaggcaaagatgttaagagcattgtttccattaaaatca c.*1620
. . . . . . g.10564
ataacaatgaaaaacggttgtttgctttgtgataaaatgttaacaatccatttaatcttc c.*1680
. . . . . . g.10624
agtgaagcaactcatttggacaaacagttcttttacagtggttatatggaaaagaaattg c.*1740
. . . . . . g.10684
attgctattttggggggctggagtgggtagagtattgagaccttttttattagggtgctg c.*1800
. . . . . . g.10744
tttgttattgagagcccaatctctgcatgaataacagaaaggtggacataaggaattgta c.*1860
. . . . . . g.10804
aagtatttagaatgtattgaataggcttaagtacctcctttaaggggcaatgctctaggt c.*1920
. . . . . . g.10864
ttttggtggcagtcaatttggtattatatatgatcattttcaattctagaattttgttta c.*1980
. . . . . g.10914
ttgttctttttgaagaaataaagtcttggcacatcttatttatgttataa c.*2030
(downstream sequence)
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