(used for variant description)
(last modified November 26, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_022406.2 in the XRCC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering XRCC4 transcript NM_022406.2.
(upstream sequence)
g.5008
cgggattt c.-121
. . . . . . g.5068
agatcacgtcccgcaggccggcggaagtagctgatactctcattggttgcaaaaccttga c.-61
. . . . . | 02 g.32422
tctgtgaaagcgggcgttttggaagataccggaagtagagtcacggagag | gtattaagaa c.-1
. . . . . . g.32482
ATGGAGAGAAAAATAAGCAGAATCCACCTTGTTTCTGAACCCAGTATAACTCATTTTCTA c.60
M E R K I S R I H L V S E P S I T H F L p.20
. . . . . . g.32542
CAAGTATCTTGGGAGAAAACACTGGAATCTGGTTTTGTTATTACACTTACTGATGGTCAT c.120
Q V S W E K T L E S G F V I T L T D G H p.40
. | 03 . . . . g.38571
TCAGCATGGACTGGGACAG | TTTCTGAATCAGAGATTTCCCAAGAAGCTGATGACATGGCA c.180
S A W T G T V | S E S E I S Q E A D D M A p.60
. . . . . . g.38631
ATGGAAAAAGGGAAATATGTTGGTGAACTGAGAAAAGCATTGTTGTCAGGAGCAGGACCA c.240
M E K G K Y V G E L R K A L L S G A G P p.80
. . . . . . g.38691
GCTGATGTATACACGTTTAATTTTTCTAAAGAGTCTTGTTATTTCTTCTTTGAGAAAAAC c.300
A D V Y T F N F S K E S C Y F F F E K N p.100
. | 04 . . . . . g.123317
CTGAAAGATGTCTCA | TTCAGACTTGGTTCCTTCAACCTAGAGAAAGTTGAAAACCCAGCT c.360
L K D V S | F R L G S F N L E K V E N P A p.120
. . . . . . g.123377
GAAGTCATTAGAGAACTTATTTGTTATTGCTTGGACACCATTGCAGAAAATCAAGCCAAA c.420
E V I R E L I C Y C L D T I A E N Q A K p.140
. . . . . . g.123437
AATGAGCACCTGCAGAAAGAAAATGAAAGGCTTCTGAGAGATTGGAATGATGTTCAAGGA c.480
N E H L Q K E N E R L L R D W N D V Q G p.160
| 05 . . . . . . g.131112
CG | ATTTGAAAAATGTGTGAGTGCTAAGGAAGCTTTGGAGACTGATCTTTATAAGCGGTTT c.540
R | F E K C V S A K E A L E T D L Y K R F p.180
. . . . . . g.131172
ATTCTGGTGTTGAATGAGAAGAAAACAAAAATCAGAAGTTTGCATAATAAATTATTAAAT c.600
I L V L N E K K T K I R S L H N K L L N p.200
. . . | 06 . . g.132339
GCAGCTCAAGAACGAGAAAAGGACATCAAACAAGAAGG | GGAAACTGCAATCTGTTCTGAA c.660
A A Q E R E K D I K Q E G | E T A I C S E p.220
. . . . . . g.132399
ATGACTGCTGACCGAGATCCAGTCTATGATGAGAGTACTGATGAGGAAAGTGAAAACCAA c.720
M T A D R D P V Y D E S T D E E S E N Q p.240
. . | 07 . . . . g.186067
ACTGATCTCTCTGGGTTGGCTTCAG | CTGCTGTAAGTAAAGATGATTCCATTATTTCAAGT c.780
T D L S G L A S A | A V S K D D S I I S S p.260
. . . . . . g.186127
CTTGATGTCACTGATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATCTT c.840
L D V T D I A P S R K R R Q R M Q R N L p.280
. . . . . | 08 . g.280634
GGGACAGAACCTAAAATGGCTCCTCAGGAGAATCAGCTTCAAGAAAAGGAAAA | TTCTAGG c.900
G T E P K M A P Q E N Q L Q E K E N | S R p.300
. . . . . . g.280694
CCTGATTCTTCACTACCTGAGACGTCTAAAAAGGAGCACATCTCAGCTGAAAACATGTCT c.960
P D S S L P E T S K K E H I S A E N M S p.320
. . . . . g.280745
TTAGAAACTCTGAGAAACAGCAGCCCAGAAGACCTCTTTGATGAGATTTAA c.1011
L E T L R N S S P E D L F D E I X p.336
. . . . . . g.280805
cagtctcaaaaaatactttgatgttcactagactatgttttctattcatttctttaaaat c.*60
. . . . . . g.280865
gaaaaaggagaatttcaagtcagcagccgctattaccgtatcttacaatttaattacata c.*120
. . . . . . g.280925
cacagtgaattgaaaccattgtgcaaaatggattacacatgtatacaaagatacgatttg c.*180
. . . . . . g.280985
atgatgacactggcacattattctaaactattcattcagcatgcctataattacataaat c.*240
. . . . . . g.281045
tgtatgagactttttgttgcaaaggacacatttatcatattcattcacacatattatatg c.*300
. . . . . . g.281105
tgatagctgtccaacatcctgtctgggaagattttgaaaacaggacaaagaaaacatcat c.*360
. . . . . . g.281165
tttaaaatgtcttcagctttttttgaatagacgtattcaaacatattctgaacattgatg c.*420
. . . . . . g.281225
tttgaacattttaatttgtgtgatgatgtagaaaatataattttagtttgtacataaaca c.*480
. . . g.281263
ttgtgaaaatctgataataaaatttttgatacattgaa c.*518
(downstream sequence)
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