(used for variant description)
(last modified November 30, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002878.3 in the RAD51D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031858.1, covering RAD51D transcript NM_002878.3.
(upstream sequence)
. g.5016
ctggaacccggaagcg c.-241
. . . . . . g.5076
gcagcgcggcgcgacccggcgggcgggctctgggcgcgggaatcccggcggatcccgggc c.-181
. . . . . . g.5136
gggcggatgacccccagccctacccttggtgccgcctcctcctctctcctttctcctccg c.-121
. . . . . . g.5196
gcagccagcgcgcctgtgtcctctctaggaaggggtaggggaggggcgtctggagaggac c.-61
. . . . . . g.5256
cccccgcgaatgcccacgtgacgtgcagtccccctggggctgttccggcctgcggggaac c.-1
. . . . . . g.5316
ATGGGCGTGCTCAGGGTCGGACTGTGCCCTGGCCTTACCGAGGAGATGATCCAGCTTCTC c.60
M G V L R V G L C P G L T E E M I Q L L p.20
. . | 02 . . . . g.5735
AGGAGCCACAGGATCAAGACAG | TGGTGGACCTGGTTTCTGCAGACCTGGAAGAGGTAGCT c.120
R S H R I K T V | V D L V S A D L E E V A p.40
. . | 03 . . . . g.6286
CAGAAATGTGGCTTGTCTTACAAG | GCCCTGGTTGCCCTGAGGCGGGTGCTGCTGGCTCAG c.180
Q K C G L S Y K | A L V A L R R V L L A Q p.60
. . . . . . g.6346
TTCTCGGCTTTCCCCGTGAATGGCGCTGATCTCTACGAGGAACTGAAGACCTCCACTGCC c.240
F S A F P V N G A D L Y E E L K T S T A p.80
. . | 04 . . . . g.17459
ATCCTGTCCACTGGCATTGGCAG | TCTTGATAAACTGCTTGATGCTGGTCTCTATACTGGA c.300
I L S T G I G S | L D K L L D A G L Y T G p.100
. . . . | 05 . . g.17762
GAAGTGACTGAAATTGTAGGAGGCCCAGGTAGCGGCAAAACTCAG | GTATGTCTCTGTATG c.360
E V T E I V G G P G S G K T Q | V C L C M p.120
. . . . . . g.17822
GCAGCAAATGTGGCCCATGGCCTGCAGCAAAACGTCCTATATGTAGATTCCAATGGAGGG c.420
A A N V A H G L Q Q N V L Y V D S N G G p.140
. . . . . . g.17882
CTGACAGCTTCCCGCCTCCTCCAGCTGCTTCAGGCTAAAACCCAGGATGAGGAGGAACAG c.480
L T A S R L L Q L L Q A K T Q D E E E Q p.160
| 06 . . . . . . g.18448
| GCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGAT c.540
| A E A L R R I Q V V H A F D I F Q M L D p.180
. . . | 07 . . . g.21349
GTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAG | GTGACTGGTTCTTCAGGAACTGTG c.600
V L Q E L R G T V A Q Q | V T G S S G T V p.200
. . . . . . g.21409
AAGGTGGTGGTTGTGGACTCGGTCACTGCGGTGGTTTCCCCACTTCTGGGAGGTCAGCAG c.660
K V V V V D S V T A V V S P L L G G Q Q p.220
| 08. . . . . . g.21598
AGGGAAG | GCTTGGCCTTGATGATGCAGCTGGCCCGAGAGCTGAAGACCCTGGCCCGGGAC c.720
R E G | L A L M M Q L A R E L K T L A R D p.240
. | 09 . . . . g.23546
CTTGGCATGGCAGTGGTG | GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTC c.780
L G M A V V | V T N H I T R D R D S G R L p.260
. . . . . . g.23606
AAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACC c.840
K P A L G R S W S F V P S T R I L L D T p.280
. . . . . . g.23666
ATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGA c.900
I E G A G A S G G R R M A C L A K S S R p.300
| 10 . . . . . . g.23890
CAG | CCAACAGGTTTCCAGGAGATGGTAGACATTGGGACCTGGGGGACCTCAGAGCAGAGT c.960
Q | P T G F Q E M V D I G T W G T S E Q S p.320
. . g.23917
GCCACATTACAGGGTGATCAGACATGA c.987
A T L Q G D Q T X p.328
. . . . . . g.23977
cctgtgctgttgtttgggaaacagggaagcattggggacccctcccaacttttcttccca c.*60
. . . . . . g.24037
gtaacgcctgctgtttactgccacctggcactggtgactacagacgttctcaggctggcc c.*120
. . . . . . g.24097
agaagagacatcttgggttccttggcctcactctctgtaagcatataaaccacaggcgaa c.*180
. . . . . . g.24157
agaggatgctgcattgcgaggacccagaaattcatactggtgccacgtttccttccctta c.*240
. . . . . . g.24217
tttctaacgtgtatgtttctggtggaaaccaagttcaccctggctgggagcatctctgat c.*300
. . . . . . g.24277
gaggcatgctggcgactggatggataatcctgtgcatcaccattgtgtcctgtgctccct c.*360
. . . . . . g.24337
cctagcgcagtggccaagccgggaaagcctctaacttgcctttgctgctgctgccttttt c.*420
. . . . . . g.24397
tttcttttgtctctgcctttccatttgttagatgggggcccactcttccttagctctgtc c.*480
. . . . . . g.24457
tctgagttactgggtggaaataagcttataaatgaaatactcttcttcatctctgttttg c.*540
. . . . . . g.24517
ctcttaaaaatataaaaaggcaattccccgagccctagagccacctgatttccccttaga c.*600
. . . . . . g.24577
aggctgtttttcagtttcccccagtgaggcccaaagaacagtttattcctcctttcctct c.*660
. . . . . . g.24637
tgctgatttggtttcagacctgcctgcatcaccatgactaggtgagaacgtgtgggctcg c.*720
. . . . . . g.24697
ctgcagttccagggatataatttaacagaaagggagggtatgacctgctcctggtgaatc c.*780
. . . . . . g.24757
cagccactcatttaatatgcatggtgccctgtggggcccctccacagtacagcataacca c.*840
. . . . . . g.24817
gaggtgctgaaccatggccttgcccataaacagacagaggagaatttgcacagtaaatag c.*900
. . . . . . g.24877
agccagctgggaaaattgatgctgacgtaaataatacatggcaaatctagtcctttatgc c.*960
. . . . . . g.24937
agaaattcattgctggtggctccaagatgcaatataattacacctctcttcctgccagct c.*1020
. . . . . . g.24997
gtaccacagctagtgccctagtgtatgaaataatccctctgtctttcaccagcactgtgg c.*1080
. . . . . . g.25057
ccatccgtctgagagccatgaccctggctgggaggggacgaagacaccagggaatggaaa c.*1140
. . g.25078
ataaaaggaaaagtacagaaa c.*1161
(downstream sequence)
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