(used for variant description)
(last modified April 15, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001005463.2 in the EBF3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering EBF3 transcript NM_001005463.2.
(upstream sequence)
. . . . . g.5059
gcgccgctgctcgaggaaacgctttcggccgggagctgcggccgccgccagcagttttc c.-1
. . . . . . g.5119
ATGTTTGGGATTCAGGAGAATATTCCGCGCGGGGGGACGACCATGAAGGAGGAGCCGCTG c.60
M F G I Q E N I P R G G T T M K E E P L p.20
. . . . . . g.5179
GGCAGCGGCATGAACCCGGTGCGCTCGTGGATGCACACGGCGGGCGTGGTGGACGCCAAC c.120
G S G M N P V R S W M H T A G V V D A N p.40
. | 02 . . . . . g.5350
ACGGCCGCCCAGAG | CGGCGTGGGGCTGGCGCGGGCGCACTTCGAGAAGCAGCCGCCTTCC c.180
T A A Q S | G V G L A R A H F E K Q P P S p.60
. . . . . . g.5410
AACCTCCGGAAATCCAATTTCTTCCACTTCGTGCTGGCGCTCTACGATAGGCAGGGGCAG c.240
N L R K S N F F H F V L A L Y D R Q G Q p.80
. . . . . | 03 . g.5831
CCGGTGGAGATTGAAAGGACCGCTTTTGTGGACTTTGTGGAGAAAGAGAAA | GAGCCAAAC c.300
P V E I E R T A F V D F V E K E K | E P N p.100
. . . . . | 04 . g.6606
AACGAGAAAACCAACAACGGCATCCACTATAAACTCCAGTTATTGTACAGCAACG | GAGTC c.360
N E K T N N G I H Y K L Q L L Y S N G | V p.120
. . . . . | 05 . g.9829
AGAACAGAGCAAGATCTGTATGTTCGCCTCATAGATTCAATGACCAAACAG | GCCATCGTC c.420
R T E Q D L Y V R L I D S M T K Q | A I V p.140
. . . . . . g.9889
TACGAGGGCCAGGACAAGAACCCGGAGATGTGCCGTGTGCTGCTGACCCACGAGATCATG c.480
Y E G Q D K N P E M C R V L L T H E I M p.160
| 06 . . . . . . g.11556
TGCAG | CCGGTGCTGTGACAAGAAAAGTTGTGGCAATAGAAACGAAACGCCCTCAGACCCT c.540
C S | R C C D K K S C G N R N E T P S D P p.180
. | 07 . . . . . g.91024
GTAATCATTGACAG | ATTCTTTCTAAAGTTTTTCCTCAAGTGCAATCAGAACTGTTTGAAG c.600
V I I D R | F F L K F F L K C N Q N C L K p.200
. . . | 08 . . . g.95255
AATGCAGGCAACCCTCGAGATATGCGGAGATTCCAG | GTTGTTGTATCGACAACAGTCAAC c.660
N A G N P R D M R R F Q | V V V S T T V N p.220
. . . . . . g.95315
GTGGACGGCCACGTGCTGGCCGTGTCAGACAACATGTTTGTGCACAACAATTCCAAACAC c.720
V D G H V L A V S D N M F V H N N S K H p.240
. . . | 09 . . . g.100941
GGGAGGCGGGCCCGCCGCCTAGACCCGTCAGAAG | CCACTCCGTGCATCAAGGCCATCAGT c.780
G R R A R R L D P S E A | T P C I K A I S p.260
. . . . . . g.101001
CCCAGTGAAGGCTGGACCACGGGGGGTGCCACCGTCATCATAATTGGCGACAACTTCTTT c.840
P S E G W T T G G A T V I I I G D N F F p.280
. . . . | 10 . . g.101575
GACGGGCTGCAAGTTGTATTCGGAACTATGTTGGTGTGGAGCGAG | CTGATAACTCCCCAT c.900
D G L Q V V F G T M L V W S E | L I T P H p.300
. . . . . . g.101635
GCCATCCGAGTCCAGACCCCGCCGAGGCACATTCCTGGCGTCGTCGAAGTGACCCTCTCC c.960
A I R V Q T P P R H I P G V V E V T L S p.320
. . . . . | 11 . g.120355
TACAAATCCAAGCAGTTCTGCAAAGGTGCTCCTGGGCGCTTTGTCTACACCG | CCCTTAAT c.1020
Y K S K Q F C K G A P G R F V Y T A | L N p.340
. . . . . . g.120415
GAACCAACCATAGATTACGGCTTTCAGAGGTTGCAGAAAGTGATCCCAAGACATCCGGGT c.1080
E P T I D Y G F Q R L Q K V I P R H P G p.360
. . | 12 . . . . g.125664
GATCCCGAAAGGTTACCCAAG | GAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCC c.1140
D P E R L P K | E V L L K R A A D L V E A p.380
. . | 13. . . . g.126567
TTATACGGAATGCCTCACAACAACCAG | GAGATCATCTTGAAGCGAGCGGCGGACATCGCC c.1200
L Y G M P H N N Q | E I I L K R A A D I A p.400
. . . . . . g.126627
GAGGCGCTGTACAGCGTTCCCCGCAATCACAACCAGATCCCCACCCTGGGCAACAACCCT c.1260
E A L Y S V P R N H N Q I P T L G N N P p.420
. . . . . . g.126687
GCACACACGGGCATGATGGGCGTCAACTCCTTCAGCAGCCAGCTAGCCGTCAACGTGTCA c.1320
A H T G M M G V N S F S S Q L A V N V S p.440
. . | 14 . . . . g.127830
GAGACGTCACAAGCCAACGACCAAG | TCGGCTACAGTCGCAATACAAGCAGCGTGTCCCCG c.1380
E T S Q A N D Q V | G Y S R N T S S V S P p.460
. . . . . . g.127890
CGAGGCTACGTCCCCAGCAGTACTCCCCAGCAGTCCAATTACAACACAGTCAGCACTAGC c.1440
R G Y V P S S T P Q Q S N Y N T V S T S p.480
. . . . . . g.127950
ATGAATGGATATGGAAGTGGCGCCATGGCCAGTCTAGGGGTCCCTGGCTCGCCTGGATTT c.1500
M N G Y G S G A M A S L G V P G S P G F p.500
. . . | 15 . . . g.128519
CTTAATGGCTCCTCCGCTAACTCTCCCTACGGCA | TGAAACAGAAGAGCGCCTTCGCGCCC c.1560
L N G S S A N S P Y G M | K Q K S A F A P p.520
. . . . . . g.128579
GTGGTCCGGCCCCAAGCCTCTCCTCCTCCTTCCTGCACCAGCGCCAACGGGAATGGACTG c.1620
V V R P Q A S P P P S C T S A N G N G L p.540
| 16 . . . g.130923
CAAG | CTATGTCTGGGCTGGTAGTCCCGCCAATGTGA c.1656
Q A | M S G L V V P P M X p.551
. . . . . . g.130983
gggacttctgtttaccttccgcagcacccagcatcaaaggacggacttcaggggacacgt c.*60
. . . . . . g.131043
ttagtatattaagacatgctgatggaaacagtatcttcaaaaaaatcagcagcaattgaa c.*120
. . . . . . g.131103
atgctacaaaagactttgtttaaagattttatttaaactattaagaatcaacatgcaaac c.*180
. . . . . . g.131163
agcctacttcttcatgaacaattccattttattgactgaacttttctcatattttcacat c.*240
. . . . . . g.131223
ttctcagtcctgaagaataaggaaaacaaagcgacgcctattttgtataaagtttccgac c.*300
. . . . . . g.131283
tccgtcttggccatgtctagtaattgctatgtgttgggagaaactttgtgaatgcaccat c.*360
. . . . . . g.131343
tttgatgatcatgaaacgctgatgaaaaatgcctccaaacatttttctgtactcatactt c.*420
. . . . . . g.131403
agattcacaatggttgtgtatctctataatgtgaaatatttttttgtggtgataaaaaga c.*480
. . . . . . g.131463
gggccaaggaggtatgagccatcagactggaaaaaaggatgactatatgatgaggagaaa c.*540
. . . . . . g.131523
ctggggtggcagggagggagggagggtttatcactgcttaacttcatcttcatgaaatga c.*600
. . . . . . g.131583
aactttgtaacttattgtagttagaaattgtaactttgatattgaattctcttgccttca c.*660
. . . . . . g.131643
acaagcacactgacagagaaaaaatgctactgtctgttggttccaatattctcccactgc c.*720
. . . . . . g.131703
tagagcttcctgttaagcaagtgtgatctgcaacattttttcaacttttgctagcactgt c.*780
. . . . . . g.131763
atactattgcattcttaggctactgtgaggtctatgtttcttgtaccagaaattgtcctt c.*840
. . . . . . g.131823
ttgacttctagatccttcttccctaatgtgttttgtatgtggttataaaattgtagactt c.*900
. . . . . . g.131883
ttgtgattttgccaaagttgtagctaaatatttatacacttgtcttgaatttttttcaga c.*960
. . . . . . g.131943
tccacttaaaatatttagaaaaacaagttttattccttatgtgtcttataaggaataaaa c.*1020
. . . . . . g.132003
tggtcttcatttgacacttactttcccatgaacacttgcagttgctaagggactttattt c.*1080
. . . . . . g.132063
tgtaacatatcaattataaatattgtatttatctttgaaattttgtacattgcttttccc c.*1140
. . . . . . g.132123
accttttcctttttcttctttcttgtctgtattggtttttgatcacggcctggtgttgtg c.*1200
. . . . . . g.132183
atactgggaagagcattagccaagaacttgtctctttgatctgtttcgttaagctgaacc c.*1260
. . . . . . g.132243
agtgtctttacatttcatttgtacttcaaaaaatatgctattgtttagactttccatcct c.*1320
. . . . . . g.132303
ttttttttttattttgaggaaaagtcaaattcattgtttatttttatattatttttaagt c.*1380
. . . . . . g.132363
tatctgaacaaatacttttgaaaaaaaagtttgttgtatagtcaaaacaaatcggtgcca c.*1440
. . . . . . g.132423
cccggccgtgacaaatcctagtagattctgtgcatgtggagcggccgcgaagaggtgaca c.*1500
. . . . . . g.132483
ccgtttggggctgtgtccttattttattttatttttttgtagaatgtaaaaagtcatttt c.*1560
. . . . . . g.132543
agatgccacccattgactttgccacatagctgaactgtgtttactggaaaaattcagagg c.*1620
. . . . . . g.132603
cctaaagtttaaaataaaatttacttctgatgttttaattaaaatgtttgccacattaac c.*1680
. . . . . . g.132663
ttttctgatgccttaaaagtgaacttctttaaagaacctttgtgctattttatcacaggc c.*1740
. . . . . . g.132723
ttacactacaattgttaataaatacttcatttggagatgtatggtgtaaaacacacaaac c.*1800
. . . . . . g.132783
acacacaaaaaagcacaagcccgctgcatgacccgtctctcctttctgggactatttctg c.*1860
. . . . . . g.132843
ctgcgtcctgcaccctcctgggcccacctccgattcacagaggtttcagggggacccaaa c.*1920
. . . . . . g.132903
tcactgctggttttcaatttttttttaacaatacatttttgtggtcagttccaacagcac c.*1980
. . . . . . g.132963
tgtccgtacttttaaaactggaatgacctccttcagatatcgtgcctcttagtgccaaac c.*2040
. . . . . . g.133023
ccacagtgagaccaaaagtgtcaggtgtttttttttttttctttctcctttgcactaagt c.*2100
. . . . . . g.133083
gctttgcagacacggcacagcaaacattttgcaaactgcagcagaaatcgaatttaaaac c.*2160
. . . . . . g.133143
aaaaaggagggactttaaaataccttcttgacaaaaatcaacaatgcacaacttacaaag c.*2220
. . . . . . g.133203
tgttcattctagggacaaaattaaataaacagaatgtccccaggagtcagcaggtcacag c.*2280
. . . . . . g.133263
tctggctttgtgatggttgacaaggtctagctacatgggaaagcctgagaagtcactttg c.*2340
. . . . . . g.133323
gaactaaattgcctccattttattttgtacgagtaagggtttgatctacaaaagagctca c.*2400
. . . . . . g.133383
catggacgcactgagaacgcctgccagcttccccatgccctcacttggtttgtgttttag c.*2460
. . . . . . g.133443
gttaagtagtcaatgcccacatcacttcactgtctcaagactgagcacttcactaaatgg c.*2520
. . . . . . g.133503
tagattttactgttaaagaccctacaataagattgttttatctgtacattttttcagata c.*2580
. . . . . . g.133563
tttaactgtataaaaatgttcattttacacaatatttaattaaagtatttcttgtctgtg c.*2640
. . . . . g.133620
aatttcacttttggtaattttctctgtttttgattattaaaatgactaaacactaac c.*2697
(downstream sequence)
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