(used for variant description)
(last modified November 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_145200.3 in the CABP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021211.1, covering CABP4 transcript NM_145200.3.
(upstream sequence)
. g.5017
cataagcagctttatgg c.-61
. . . . . . g.5077
gtcctgaaagccaagggtgcccaggggtgtggtgtctctgagccctgttatccctccccc c.-1
. . . . . . g.5137
ATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAG c.60
M T T E Q A R G Q Q G P N L A I G R Q K p.20
. . . . . . g.5197
CCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAG c.120
P P A G V V T P K S D A E E P P L T R K p.40
. . . . . . g.5257
AGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAG c.180
R S K K E R G L R G S R K R T G S S G E p.60
. . . . . . g.5317
CAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCG c.240
Q T G P E A P G S S N N P P S T G E G P p.80
. . . . . . g.5377
GCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGT c.300
A G A P P A S P G P A S S R Q S H R H R p.100
. . . . . . g.5437
CCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTC c.360
P D S L H D A A Q R T Y G P L L N R V F p.120
| 02 . . . | 03. . . g.5975
GGGAAG | GACCGCGAACTGGGCCCCGAGGAGCTAGACG | AGCTTCAGGCCGCCTTCGAGGAG c.420
G K | D R E L G P E E L D E | L Q A A F E E p.140
. . . . . . g.6035
TTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACC c.480
F D T D R D G Y I S H R E L G D C M R T p.160
. . . . . . g.6095
CTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGC c.540
L G Y M P T E M E L L E V S Q H I K M R p.180
| 04 . . . . . . g.7285
A | TGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAG c.600
M | G G R V D F E E F V E L I G P K L R E p.200
. . . . . | 05 . g.8033
GAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAG | TTTGACAGG c.660
E T A H M L G V R E L R I A F R E | F D R p.220
. . . . . . g.8093
GACAGGGATGGACGAATTACGGTGGCGGAGCTGCGGGAGGCGGTACCGGCTCTGCTCGGG c.720
D R D G R I T V A E L R E A V P A L L G p.240
. . . . . . g.8153
GAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGAT c.780
E P L A G P E L D E M L R E V D L N G D p.260
. | 06 . . g.8325
GGCACCGTAGACTTTGACG | AGTTTGTGATGATGCTCTCCCGCCACTGA c.828
G T V D F D E | F V M M L S R H X p.275
. . . . . . g.8385
ggctccaggagggaatatctgttgcccctgcggccccagacaccagccagacccaggctg c.*60
. . . . . . g.8445
caggcctcccccaggagcctccaggatggagatggagacccagcagcccccagactactt c.*120
. . . . . . g.8505
ctatccctgaaaacacctggcctcaatgttggcttgttatgttacctgcccaccctcatc c.*180
. . . . . . g.8565
cttacctcctcctactcaagctgcctggagaagacctgctctcagctgcccaccgttcct c.*240
. . . . . . g.8625
cagtgtgagcaagatttgggtctctccagacctctgggaggtagggagttccctggcact c.*300
. . . . . . g.8685
ggcagcattcagtggggaccccccagtggcatgatgaatggagaggatggctggacccct c.*360
. . . . . . g.8745
tccactacttatgtttataattttttttttttttaatgaacttgagccgggtgcagtggc c.*420
. . . . . . g.8805
tcacacctgtaagcccagctgtcagggggcagaagcgggaggatagcttgagcccaggag c.*480
. . . . . . g.8865
tgcaagacctgcctgggcaatatactgagaccccattctccacaaaaaggaaaaataaaa c.*540
. . . . . . g.8925
gacaaaaaaacaaacaaaaaaccaaaaaacccaagtgtaaaaaaagtgagcttgaaagaa c.*600
. . . . . . g.8985
agaaagggatggctccatgtatcaaagacaaagaaatcaaagctggggttgtaagaggga c.*660
. . . . . . g.9045
gctgacgctgtgggggtttcagatctggatggaggcttggccgcctggactcctacaacc c.*720
. . . . . . g.9105
atgagtgacagaagaaccatatgagtctggggagcaagaaacaaaccccccggatatatt c.*780
. . . . . . g.9165
ccagggtctccaaaggctaagatattaatctgtctgcactgaccagtcatagaaagtggc c.*840
. . . . . . g.9225
aaggatacagatgttcagggcccagagtggaaacagctgccctaaagagcctggaactcc c.*900
. . . . . . g.9285
agggcctgcccttcaagcaggcgtgtagtctctctccagggtgtgaaaaactggaaaaaa c.*960
. . . . . . g.9345
accctgccgctcccaaaggggaacttgtgataaaaattacagattattgggctgggagtg c.*1020
. . . . . . g.9405
gtggctcacgcctgtaatcccagcactttgggaggctgaggcgggtgaattacctgaggt c.*1080
. . . . . . g.9465
caggagtttgaggccagcctgaccaacatggtgaaaccccatctctactaaaaatacaaa c.*1140
. . . . . . g.9525
aattaactgggcgaggtagcatgcacctgtaatctcagctactcggaggttgaggcagga c.*1200
. . . . . . g.9585
gaatcgcttgagcccgggaggtggagctgcagtgagctgagatcacaccattgcacccca c.*1260
. . . . . . g.9645
gcctgagcaacagatcgagactccgtctcaaaaacaaaacaaaaaaaccatactgattat c.*1320
. . . . . . g.9705
aaaagtaaagaaaccaccatgaaggagacgagacagagacaaaaacaagaggactggcat c.*1380
. . . . . . g.9765
ctcagtgtacataatacagccgcctaagagaccacaagatacatgcaaataaaagacggc c.*1440
. . . . . . g.9825
taaaaggggaagagagatcaacatgcagtaacaggatagtatgaagagagaaccggaaga c.*1500
. . . . . . g.9885
tttaaaaagtaacccaacaggccaggcgcatggctcatgcctggaatcccagcactttgg c.*1560
. . . . . . g.9945
gaggccaaggtgggtgggttgcttgagctcaggaattcgagaccagcctgggcaacatgg c.*1620
. . . . . . g.10005
tgaaaccctgtctctactaaaaatacaaaaattagccaggcgtggtggtgcttgcatctg c.*1680
. . . . . . g.10065
tggtcccaggtattctacaggctgaggtgggaggatcacttgagcccaggaggcagaggt c.*1740
. . . . . . g.10125
tgcagtgagtcgagatcgcaccactgcactccagcgtgggtaacagagtgagaatccgtc c.*1800
. . . . . . g.10185
aaaaagaaaaaaacaaaccatggcttctgttaaaaaaataaagtatattttatatataca c.*1860
. . . . . . g.10245
cacacacacacacacacacacacagccattggaatgaaaaaataatggataagctaaaca c.*1920
. . . . . . g.10305
gcagattaaacacaatttaaagattaatgaactggaagctatatctaagaaatcacttat c.*1980
. . . . . . g.10365
aatgtaacactgagagacaaaaggatggaaaatattacagggtagttaaaagtcactgga c.*2040
. . . . . . g.10425
aggctgggtgtggtggctcacgcctgtaatcccagcactttgggaggctgagacgggcgg c.*2100
. . . . . . g.10485
gtcacagggtcaggagatcgagaccatcctggctaacacagtgaaaccccatctctacta c.*2160
. . . . . . g.10545
aaaatacaaaaaaaaattagctgggcgtggtggcgggcgcctgtagtcccagctactagg c.*2220
. . . . . . g.10605
gaggctgaggcaagagaatggcgtgaacccaggaggcggagcttgcagtgagccgagatt c.*2280
. . . . . . g.10665
gcaccactgcactccagcctgggctacagagcgagactccgtctcggaaaaaaaaaaaaa c.*2340
. . . . . . g.10725
aaaaggtcactggaagactgggtgtggtggcttatgcctgtaatcccagcattttgggag c.*2400
. . . . . . g.10785
gctaaggcaggaggatcacttgaggccaggagtttgagaccagcctaacagcaagaccct c.*2460
. . . . . . g.10845
gcctcttaaaaaaaataataaaaaaataagctgggtgtagtggctcatgcttgtagttcc c.*2520
. . . . . . g.10905
agctattcaggaggctgaggtgagaggatcatttgagcccaggagttggaggctgcagtg c.*2580
. . . . . . g.10965
atcgtgccactgcactccagccttggtgacagagcaagagaccctgtctcaaagaaaaag c.*2640
. . . . . . g.11025
acagataagtccttgggagtctcagacggaggacatacatagagaatgaacaagaagcaa c.*2700
. . . . . . g.11085
taaccaaagagataatggctgaaaattttccataaagacttccacagacttcaactcccc c.*2760
. . . . . . g.11145
agattgaaggaacaaactgaagtcagagtagggtaaataaaaataaatatatatctggat c.*2820
. . . . . . g.11205
atatcccattgaaaccacagaatataaaaagcaaatcttataaataactggagagaaaag c.*2880
. . . . . . g.11265
tcagattcacggtgttctgtcaaagtgttcatgtagactaagggtggggaaactttctgt c.*2940
. . . . . . g.11325
aaagggctggagaataattattttcagctttgaggctttggtctctgttgcagctgctca c.*3000
. . . . . . g.11385
cgcaactctgctgttgaagtttgtagtgcaaagtcaagtcaacaaatgagtgtggctata c.*3060
. . . . . g.11440
tcagaaattttaataaataacagtaaaacttcatttattgacatggaaatttgaa c.*3115
(downstream sequence)
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