(used for variant description)
(last modified November 7, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_133509.3 in the RAD51B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023267.1, covering RAD51B transcript NM_133509.3.
(upstream sequence)
. g.5004
gttgctttgcggcgttt c.-61
. . . . . . | 02 g.8752
tccgcggggaaactgtgtaaagggtggggaaacttgaaagttggatgctgcagacccg | gc c.-1
. . . . . . g.8812
ATGGGTAGCAAGAAACTAAAACGAGTGGGTTTATCACAAGAGCTGTGTGACCGTCTGAGT c.60
M G S K K L K R V G L S Q E L C D R L S p.20
. . | 03 . . . . g.10708
AGACATCAGATCCTTACCTGTCAG | GACTTTTTATGTCTTTCCCCACTGGAGCTTATGAAG c.120
R H Q I L T C Q | D F L C L S P L E L M K p.40
. . . . . . g.10768
GTGACTGGTCTGAGTTATCGAGGTGTCCATGAACTTCTATGTATGGTCAGCAGGGCCTGT c.180
V T G L S Y R G V H E L L C M V S R A C p.60
. | 04 . . . . g.20330
GCCCCAAAGATGCAAACG | GCTTATGGGATAAAAGCACAAAGGTCTGCTGATTTCTCACCA c.240
A P K M Q T | A Y G I K A Q R S A D F S P p.80
. . . . . . g.20390
GCATTCTTATCTACTACCCTTTCTGCTTTGGACGAAGCCCTGCATGGTGGTGTGGCTTGT c.300
A F L S T T L S A L D E A L H G G V A C p.100
. | 05 . . . . . g.50256
GGATCCCTCACAGAG | ATTACAGGTCCACCAGGTTGTGGAAAAACTCAGTTTTGTATAATG c.360
G S L T E | I T G P P G C G K T Q F C I M p.120
. . . . . . g.50316
ATGAGCATTTTGGCTACATTACCCACCAACATGGGAGGATTAGAAGGAGCTGTGGTGTAC c.420
M S I L A T L P T N M G G L E G A V V Y p.140
. . . | 06 . . . g.71105
ATTGACACAGAGTCTGCATTTAGTGCTGAAAG | ACTGGTTGAAATAGCAGAATCCCGTTTT c.480
I D T E S A F S A E R | L V E I A E S R F p.160
. . . . . . g.71165
CCCAGATATTTTAACACTGAAGAAAAGTTACTTTTGACAAGTAGTAAAGTTCATCTTTAT c.540
P R Y F N T E E K L L L T S S K V H L Y p.180
. . . | 07 . . . g.72257
CGGGAACTCACCTGTGATGAAGTTCTACAAAG | GATTGAATCTTTGGAAGAAGAAATTATC c.600
R E L T C D E V L Q R | I E S L E E E I I p.200
. . . . . . g.72317
TCAAAAGGAATTAAACTTGTGATTCTTGACTCTGTTGCTTCTGTGGTCAGAAAGGAGTTT c.660
S K G I K L V I L D S V A S V V R K E F p.220
. . . . . . g.72377
GATGCACAACTTCAAGGCAATCTCAAAGAAAGAAACAAGTTCTTGGCAAGAGAGGCATCC c.720
D A Q L Q G N L K E R N K F L A R E A S p.240
. . . | 08 . . . g.477116
TCCTTGAAGTATTTGGCTGAGGAGTTTTCAATCCCA | GTTATCTTGACGAATCAGATTACA c.780
S L K Y L A E E F S I P | V I L T N Q I T p.260
. . . . . . g.477176
ACCCATCTGAGTGGAGCCCTGGCTTCTCAGGCAGACCTGGTGTCTCCAGCTGATGATTTG c.840
T H L S G A L A S Q A D L V S P A D D L p.280
. | 09 . . . . . g.596679
TCCCTGTCTGAAG | GCACTTCTGGATCCAGCTGTGTGATAGCCGCACTAGGAAATACCTGG c.900
S L S E G | T S G S S C V I A A L G N T W p.300
. . . . . | 10. g.653383
AGTCACAGTGTGAATACCCGGCTGATCCTCCAGTACCTTGATTCAGAGAGAAGACAG | ATT c.960
S H S V N T R L I L Q Y L D S E R R Q | I p.320
. . . . . . g.653443
CTTATTGCCAAGTCCCCTCTGGCTCCCTTCACCTCATTTGTCTACACCATCAAGGAGGAA c.1020
L I A K S P L A P F T S F V Y T I K E E p.340
. | 11 . . . . . g.779737
GGCCTGGTTCTTCAAG | AGACAACATTTTGCTCTGTCACCCAAGCTGAACTGAACTGGGCT c.1080
G L V L Q E | T T F C S V T Q A E L N W A p.360
. . . . . . g.779797
CCAGAAATCCTCCCACCTCAGCCTCCTGAGCAGCTAGGACTACAGATGTGCCACCATACC c.1140
P E I L P P Q P P E Q L G L Q M C H H T p.380
. g.779812
CAGCTAATTTTTTAA c.1155
Q L I F X p.384
. . . . . . g.779872
ttttttgtagaggtggggtctcattatgttgcccaagctgatctcaaactcctggcttca c.*60
. . . . . . g.779932
agagatccacccacctcagcctcccaaagcgctaggattacaagtatgagactttgccat c.*120
. . . . . . g.779992
tccaatgagaattttgtccttagcaatctcatccaatggccactggagatgtgtgtaggg c.*180
. . . . . . g.780052
ccacaagaatgagaaagggggcaatggagtgacaggtgacctgctcaggtgcccctcccc c.*240
. . . . . . g.780112
agaccaaatgtcccaggcacacagcccatgccctccaccatggagtacattttctccctg c.*300
. . . . . . g.780172
gcttgctgctgagctaaaggaccagggacgtggaaacaggaggtgaactaaggcaccccg c.*360
. . . . . . g.780232
ccacccactgtggcagcttgaatttcttgaggctgagacaaactaggatccagtagccta c.*420
. . . . . . g.780292
gattttgccccagtttctccactgagtatttactcagtgctcctgagccgatgccttccc c.*480
. . . . . . g.780352
ctctgcctagatgaaccacagcattttggtaaatgcctcagcatgttaggagcgctggaa c.*540
. . . . . . g.780412
cgtttattctcttccctcccaattatccactctaatggagcagaacacttacatggaaaa c.*600
. . . . . . g.780472
tcctaaacatggaagatgatttaaaaatgattcaccctggaatacatgcttccagttgct c.*660
. . . . . . g.780532
tctacaggtttaccttgctaaaggcatttcgcttcctttgctgttacaataagcttgcct c.*720
. . . . . . g.780592
gccttgaagaaaagaagaccagggccaaagggaaatcagtcaagggagcctgttttgtct c.*780
. . . . . . g.780652
gaaataatgcatccatgaacaaatgaattgagtataactgtctttttacatcagtgtttc c.*840
. . . . . . g.780712
tgtggaattaagagaacatccaaggccactcctagcttgagtagattaaatttgtccttg c.*900
. . . . . . g.780772
tgtttggagcaagggttgtgaagtctgtctggcccatcaaatgaccaatggcttttaagg c.*960
. . . . . . g.780832
aaggactaagtgacttatgaccagaacaagggagcagcctgagtcagtctccccaatgtc c.*1020
. . . . . . g.780892
tacattgtgttatttatactagcaaaaaaatagacacaactaaatgttcgaccatatggt c.*1080
. . . . . . g.780952
attggttaaattaacatctatacgatggaatactagatggtcattaaaattatgtgtcag c.*1140
. . . . . . g.781012
aagaaggcttaatctcatgggaaagtgttcacaccatattattaaagagaaaaaacagat c.*1200
. . . . . . g.781072
tataaagcaatatgcatacaatgtagtagttctgtaagaaaaaagtattatgtgcatttt c.*1260
. . . . . . g.781132
aactggaaaaatatgtataaaaatgttaacagtgcaatctctgggcaataagattatact c.*1320
. . . . . . g.781192
tgacttttatttcttttttggaattgtcttttttttttttttttcaagtttcctcccatt c.*1380
. . . g.781230
aacatgcatgttcccaaaatcaggggaaaaatacatta c.*1418
(downstream sequence)
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