(used for variant description)
(last modified January 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003418.4 in the CNBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering CNBP transcript NM_003418.4.
(upstream sequence)
. . g.5026
aaccccgcgcgctgattggccgcgtg c.-181
. . . . . . g.5086
ggcgaggcggaggagagccgtgcgcagcggcgtatgtggggccgtgtgcagacccgcgtg c.-121
. . . . . . g.5146
tggcgcaggcaaggaccctcaaaataaacagcctctaccttgcgagccgtcttccccagg c.-61
. . . . . | 02 . g.17210
cctgcgtccgagtctccgccgctgcgggcccgctccgacgcggaag | atctgactgcagcc c.-1
. . . . . . g.17270
ATGAGCAGCAATGAGTGCTTCAAGTGTGGACGATCTGGCCACTGGGCCCGGGAATGTCCT c.60
M S S N E C F K C G R S G H W A R E C P p.20
. . . . . . g.17330
ACTGGTGGAGGCCGTGGTCGTGGAATGAGAAGCCGTGGCAGAGGTGGTTTTACCTCGGAT c.120
T G G G R G R G M R S R G R G G F T S D p.40
| 03 . . . . . . g.17485
AGAG | GTTTCCAGTTTGTTTCCTCGTCTCTTCCAGACATTTGTTATCGCTGTGGTGAGTCT c.180
R G | F Q F V S S S L P D I C Y R C G E S p.60
. . . | 04. . . g.17713
GGTCATCTTGCCAAGGATTGTGATCTTCAGGAGGATG | CCTGCTATAACTGCGGTAGAGGT c.240
G H L A K D C D L Q E D A | C Y N C G R G p.80
. . . . . . g.17773
GGCCACATTGCCAAGGACTGCAAGGAGCCCAAGAGAGAGCGAGAGCAATGCTGCTACAAC c.300
G H I A K D C K E P K R E R E Q C C Y N p.100
. . . . . . g.17833
TGTGGCAAACCAGGCCATCTGGCTCGTGACTGCGACCATGCAGATGAGCAGAAATGCTAT c.360
C G K P G H L A R D C D H A D E Q K C Y p.120
. . . . . | 05 . g.18401
TCTTGTGGAGAATTCGGACACATTCAAAAAGACTGCACCAAAGTGAAGTGCTATAG | GTGT c.420
S C G E F G H I Q K D C T K V K C Y R | C p.140
. . . . . . g.18461
GGTGAAACTGGTCATGTAGCCATCAACTGCAGCAAGACAAGTGAAGTCAACTGTTACCGC c.480
G E T G H V A I N C S K T S E V N C Y R p.160
. . . . . g.18515
TGTGGCGAGTCAGGGCACCTTGCACGGGAATGCACAATTGAGGCTACAGCCTAA c.534
C G E S G H L A R E C T I E A T A X p.177
. . . . . . g.18575
ttattttcctttgtcgcccctcctttttctgattgatggttgtattattttctctgaatc c.*60
. . . . . . g.18635
ctcttcactggccaaaggttggcagatagaggcaactcccaggccagtgagctttacttg c.*120
. . . . . . g.18695
ccgtgtaaaaggaggaaaggggtggaaaaaaaccgactttctgcatttaactacaaaaaa c.*180
. . . . . . g.18755
agtttatgtttagtttggtagaggtgttatgtataatgctttgttaaagaaccccctttc c.*240
. . . . . . g.18815
cgtgccactggtgaatagggattgatgaatgggaagagttgagtcagaccagtaagcccg c.*300
. . . . . . g.18875
tcctgggttccttgaacatgttcccatgtaggaggtaaaaccaattctggaagtgtctat c.*360
. . . . . . g.18935
gaacttccataaataactttaattttagtataatgatggtcttggattgtctgacctcag c.*420
. . . . . . g.18995
tagctattaaataacatcaagtaacatctgtatcaggccctacatagaacatacagttga c.*480
. . . . . . g.19055
gtgggagtaaacaaaaagataaacatgcgtgttaatggctgttcgagagaaatcggaata c.*540
. . . . . . g.19115
aaagcctaaacaggaacaacttcatcacagtgttgatgttggacacatagatggtgatgg c.*600
. . . . . . g.19175
caaaggtttagaacacattattttcaaagactaaatctaaaacccagagtaaacatcaat c.*660
. . . . . . g.19235
gctcagagttagcataatttggagctattcaggaattgcagagaaatgcattttcacaga c.*720
. . . . . . g.19295
aatcaagatgttatttttgtatactatatcacttagacaactgtgtttcatttgctgtaa c.*780
. . . . . . g.19355
tcagtttttaaaagtcagatggaaagagcaactgaagtcctagaaaatagaaatgtaatt c.*840
. . . . . . g.19415
ttaaactattccaataaagctggaggaggaaggggagtttgactaaagttctttttgttt c.*900
. . . . . . g.19475
gtttcaaattttcattaatgtatatagtgcaaaataccatattaaagaggggaatgtgga c.*960
. . . . . . g.19535
ggactgaaagctgacagtttggacttttctttttgtacttaagtcatgtcttcaataatg c.*1020
. . . . . . g.19595
aaaattgctgttaaaaggatgtatgggatttagatacttttgcaaagctatagaaaattc c.*1080
. . . . . . g.19655
actttgtaatctgttataataatgcccttgagttctgtgttcagtctgaacaggtttttt c.*1140
. . . . . . g.19715
ggtggtggtggttttgttttgttttggagacggagtctcactcttgtcgcccaggctgga c.*1200
. . . . . . g.19775
gtgcaggcttggctcactgcaacctccacctcccgggttcaagcaattctcctgcctcag c.*1260
. . . . . . g.19835
cctcctgagtagctgggattacaggcacccgccaccaccccccgctaattttttgtattt c.*1320
. . . . . . g.19895
ttatttttattttatttttttatttttttttgagacagagtgtcgctctgttgcccaggc c.*1380
. . . . . . g.19955
tggagtgtagtggtgcgatctcggctcactgcaagctccgcctcctgggttcgtgccatt c.*1440
. . . . . . g.20015
ctcctgcctcagcctcctgagtagctggggctacaggtacccgccaccgcgcccagctaa c.*1500
. . . . . . g.20075
ttttttttttttgtatttttagtaaagacggggtttcacggtgttagccaggatggtctc c.*1560
. . . . . . g.20135
aatctcctgacctcgtgatccgcccgccttggcctcccaaagtgctgggatcacaggcgt c.*1620
. . . . . . g.20195
gagccaccgcgcccggcctattttttgtatttttagtagagactgggtttcatcatgttg c.*1680
. . . . . . g.20255
gtcgggctggtctccaactcctgacctcaggtgatccacctgccccgccccccaaagtgc c.*1740
. . . . . . g.20315
tagtgttacaggtgcgagccaccgtgtctggccgattctgaacagttttaataccattgc c.*1800
. . . . . . g.20375
tatttttgtgtttttcctgggccttttttttttttttttttttttttgagacagtctcgc c.*1860
. . . . . . g.20435
tctgttgcccaggctagagtgcaatggtgcaatctcagctcactgcaacctccacccccc c.*1920
. . . . . . g.20495
acccccacaccccgttcaagtaattctcctgcctcagcctcccaaatagctgggattaca c.*1980
. . . . . . g.20555
ggtgtccgccaccacacccagctaatttttgttatttttagtagagatggggtttcactg c.*2040
. . . . . . g.20615
tgttggtcaggctggtctccaactgttgccctcaggtgagccactgtgccccaccttttc c.*2100
. . . . . . g.20675
ctgggtttcataaggatctgaagtggtggattccttgtttttgctagtgtctcatttaga c.*2160
. . . . . . g.20735
gttgagatggaccttaaaactcatctgttttaactcactttttaatagatgagttaaact c.*2220
. . . . . . g.20795
taatttacttaaggatgtacagttagagcctggaacttcaaccattattcactccccatg c.*2280
. . . . . . g.20855
ccctgtttccccccacttcgaaattaaatgcggttagcatcatatagttcattttccccc c.*2340
. . . . . . g.20915
tccatgctgctgtgtgattcttgactttgggtatgagtttttcatccttcatgcagggtt c.*2400
. . . . . . g.20975
ctgtcagttcatggtatagtgattcagtgttaaaatggtggtgtctcagctgtgctgtgc c.*2460
. . . . . . g.21035
acattccaaccttgtcaaattaatagtcctgagcaagcaagaaaaagaggtaataacata c.*2520
. . . . . . g.21095
cccatttctttatgaatataagcttataatattttttcatgtgctatttttactgagcaa c.*2580
. . . . . g.21153
attgtatgtctcacatgttaacacaataaatatcttgacaattttattttctaccata c.*2638
(downstream sequence)
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