(used for variant description)
(last modified February 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005591.3 in the MRE11A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering MRE11A transcript NM_005591.3.
(upstream sequence)
g.5009
acgttatcc c.-181
. . . . . . g.5069
atgaagtgtcgcgagagaaacggacgccgttctctcccgcggaattcaggtttacggccc c.-121
. . | 02 . . . . g.6013
tgcgggttctcagag | aatttctagaatttggaatcgagtgcattttctgacatttgagta c.-61
. . . . . . g.6073
cagtacccaggggttcttggagaagaacctggtcccagaggagcttgactgaccataaaa c.-1
. . | 03 . . . . g.7949
ATGAGTACTGCAGATGCACT | TGATGATGAAAACACATTTAAAATATTAGTTGCAACAGAT c.60
M S T A D A L | D D E N T F K I L V A T D p.20
. . . . . . g.8009
ATTCATCTTGGATTTATGGAGAAAGATGCAGTCAGAGGAAATGATACGTTTGTAACACTC c.120
I H L G F M E K D A V R G N D T F V T L p.40
. . . | 04 . . . g.12817
GATGAAATTTTAAGACTTGCCCAGGAAAATGAA | GTGGATTTTATTTTGTTAGGTGGTGAT c.180
D E I L R L A Q E N E | V D F I L L G G D p.60
. . . . . . g.12877
CTTTTTCATGAAAATAAGCCCTCAAGGAAAACATTACATACCTGCCTCGAGTTATTAAGA c.240
L F H E N K P S R K T L H T C L E L L R p.80
. . . . . . g.12937
AAATATTGTATGGGTGATCGGCCTGTCCAGTTTGAAATTCTCAGTGATCAGTCAGTCAAC c.300
K Y C M G D R P V Q F E I L S D Q S V N p.100
. | 05 . . . . . g.19159
TTTGGTTTTAGTAA | GTTTCCATGGGTGAACTATCAAGATGGCAACCTCAACATTTCAATT c.360
F G F S K | F P W V N Y Q D G N L N I S I p.120
. . . . | 06 . . g.20016
CCAGTGTTTAGTATTCATGGCAATCATGACGATCCCACAGGG | GCAGATGCACTTTGTGCC c.420
P V F S I H G N H D D P T G | A D A L C A p.140
. . . . . . g.20076
TTGGACATTTTAAGTTGTGCTGGATTTGTAAATCACTTTGGACGTTCAATGTCTGTGGAG c.480
L D I L S C A G F V N H F G R S M S V E p.160
. . . . . . g.20136
AAGATAGACATTAGTCCGGTTTTGCTTCAAAAAGGAAGCACAAAGATTGCGCTATATGGT c.540
K I D I S P V L L Q K G S T K I A L Y G p.180
| 07 . . . . . . g.22527
TTAG | GATCCATTCCAGATGAAAGGCTCTATCGAATGTTTGTCAATAAAAAAGTAACAATG c.600
L G | S I P D E R L Y R M F V N K K V T M p.200
. . . . . | 08 g.27116
TTGAGACCAAAGGAAGATGAGAACTCTTGGTTTAACTTATTTGTGATTCATCAGAACAG | G c.660
L R P K E D E N S W F N L F V I H Q N R | p.220
. . . . . . g.27176
AGTAAACATGGAAGTACTAACTTCATTCCAGAACAATTTTTGGATGACTTCATTGATCTT c.720
S K H G S T N F I P E Q F L D D F I D L p.240
. . . . . . g.27236
GTTATCTGGGGCCATGAACATGAGTGTAAAATAGCTCCAACCAAAAATGAACAACAGCTG c.780
V I W G H E H E C K I A P T K N E Q Q L p.260
. . . . . . g.27296
TTTTATATCTCACAACCTGGAAGCTCAGTGGTTACTTCTCTTTCCCCAGGAGAAGCTGTA c.840
F Y I S Q P G S S V V T S L S P G E A V p.280
| 09 . . . . . . g.28287
AAGAA | ACATGTTGGTTTGCTGCGTATTAAAGGGAGGAAGATGAATATGCATAAAATTCCT c.900
K K | H V G L L R I K G R K M N M H K I P p.300
. . . . . . g.28347
CTTCACACAGTGCGGCAGTTTTTCATGGAGGATATTGTTCTAGCTAATCATCCAGACATT c.960
L H T V R Q F F M E D I V L A N H P D I p.320
. . . . . | 10. g.30984
TTTAACCCAGATAATCCTAAAGTAACCCAAGCCATACAAAGCTTCTGTTTGGAGAAG | ATT c.1020
F N P D N P K V T Q A I Q S F C L E K | I p.340
. . . . . . g.31044
GAAGAAATGCTTGAAAATGCTGAACGGGAACGTCTGGGTAATTCTCACCAGCCAGAGAAG c.1080
E E M L E N A E R E R L G N S H Q P E K p.360
. | 11 . . . . g.34677
CCTCTTGTACGACTGCGA | GTGGACTATAGTGGAGGTTTTGAACCTTTCAGTGTTCTTCGC c.1140
P L V R L R | V D Y S G G F E P F S V L R p.380
. . . . . . g.34737
TTTAGCCAGAAATTTGTGGATCGGGTAGCTAATCCAAAAGACATTATCCATTTTTTCAGG c.1200
F S Q K F V D R V A N P K D I I H F F R p.400
. . | 12 . . . . g.37873
CATAGAGAACAAAAGGAAAAAACAG | GAGAAGAGATCAACTTTGGGAAACTTATCACAAAG c.1260
H R E Q K E K T G | E E I N F G K L I T K p.420
. . . . . . g.37933
CCTTCAGAAGGAACAACTTTAAGGGTAGAAGATCTTGTAAAACAGTACTTTCAAACCGCA c.1320
P S E G T T L R V E D L V K Q Y F Q T A p.440
| 13 . . . . . . g.39347
GAGAAG | AATGTGCAGCTCTCACTGCTAACAGAAAGAGGGATGGGTGAAGCAGTACAAGAA c.1380
E K | N V Q L S L L T E R G M G E A V Q E p.460
. . . . . . g.39407
TTTGTGGACAAGGAGGAGAAAGATGCCATTGAGGAATTAGTGAAATACCAGTTGGAAAAA c.1440
F V D K E E K D A I E E L V K Y Q L E K p.480
. . . . . . g.39467
ACACAGCGATTTCTTAAAGAACGTCATATTGATGCCCTCGAAGACAAAATCGATGAGGAG c.1500
T Q R F L K E R H I D A L E D K I D E E p.500
| 14 . . . . . . g.42596
| GTACGTCGTTTCAGAGAAACCAGACAAAAAAATACTAATGAAGAAGATGATGAAGTCCGT c.1560
| V R R F R E T R Q K N T N E E D D E V R p.520
| 15 . . . . . . g.51493
GAG | GCTATGACCAGGGCCAGAGCACTCAGATCTCAGTCAGAGGAGTCTGCTTCTGCCTTT c.1620
E | A M T R A R A L R S Q S E E S A S A F p.540
. . . . . . g.51553
AGTGCTGATGACCTTATGAGTATAGATTTAGCAGAACAGATGGCTAATGACTCTGATGAT c.1680
S A D D L M S I D L A E Q M A N D S D D p.560
. . . . . . g.51613
AGCATCTCAGCAGCAACCAACAAAGGAAGAGGCCGAGGAAGAGGTCGAAGAGGTGGAAGA c.1740
S I S A A T N K G R G R G R G R R G G R p.580
. . . . | 16 . . g.52998
GGGCAGAATTCAGCATCGAGAGGAGGGTCTCAAAGAGGAAGAG | CAGACACTGGTCTGGAG c.1800
G Q N S A S R G G S Q R G R A | D T G L E p.600
. . . . . . g.53058
ACTTCTACCCGTAGCAGGAACTCAAAGACTGCTGTGTCAGCATCTAGAAATATGTCTATT c.1860
T S T R S R N S K T A V S A S R N M S I p.620
| 17. . . . . . g.61692
ATAGATG | CCTTTAAATCTACAAGACAGCAGCCTTCCCGAAATGTCACTACTAAGAATTAT c.1920
I D A | F K S T R Q Q P S R N V T T K N Y p.640
| 18 . . . . . . g.63029
TCAGAG | GTGATTGAGGTAGATGAATCAGATGTGGAAGAAGACATTTTTCCTACCACTTCA c.1980
S E | V I E V D E S D V E E D I F P T T S p.660
. | 19 . . . . . g.68934
AAGACAGATCAAAG | GTGGTCCAGCACATCATCCAGCAAAATCATGTCCCAGAGTCAAGTA c.2040
K T D Q R | W S S T S S S K I M S Q S Q V p.680
. . . | 20 . . . g.78723
TCGAAAGGGGTTGATTTTGAATCAAGTGAG | GATGATGATGATGATCCTTTTATGAACACT c.2100
S K G V D F E S S E | D D D D D P F M N T p.700
. . g.78750
AGTTCTTTAAGAAGAAATAGAAGATAA c.2127
S S L R R N R R X p.708
. . . . . . g.78810
tatatttaatggcactgagaaacatgcaagatacaggaaaaatgaaaatgttacaagcta c.*60
. . . . . . g.78870
agagtttacagtttaagattttaagtattgtttcctgagcataactccataagtaagaaa c.*120
. . . . . . g.78930
tttctagttcacagacatacaatagcattgattcaccttgtttttttaacctggttgttg c.*180
. . . . . . g.78990
tagtaagagctttgtttcaatatcactcttgagtaaagattaaaataaagctaccatttt c.*240
. . . . . . g.79050
acatttctatttcataatgaaaaactatgtcagtattttaatatggttacatttagccaa c.*300
. . . . . . g.79110
agttgagggaaagagcttataaaatttaacttcttcataattttagtaatttcctagagg c.*360
. . . . . . g.79170
ttctgggttttctgaaagtaaaacaatttatgcgaacctatgtctaaattcactgtttgt c.*420
. . . . . . g.79230
tactatgtatgtttttttccaatgcttcttataagactaaatgattagaagtacctaata c.*480
. . . . . . g.79290
gtttgaacagatatgtttttatttaaaagagtagaataacctttcagaattactgagttt c.*540
. . . . . . g.79350
tttattccagttgtagcaaagatttcaaaagattgtgttcccattaagtggtagtaattt c.*600
. . . . . . g.79410
cctttattattctgtatccttaatggtgttctctctctctctctctctctctctctctcc c.*660
. . . . . . g.79470
ctctcccccccgttccccactcttcctttctcctttgctttttcttctctttcatacata c.*720
. . . . . . g.79530
tatgcgtgcctagttctaggaggaaacgggttaaaaattgttttaaactacatcttgaaa c.*780
. . . . . . g.79590
atattgaagaatttgttttaggtagagtggtcagttgaaccttacagtaaagtatagaaa c.*840
. . . . . . g.79650
tatatttaatgtggaatgtcaatgccaggatttctcattaacaatattttatctcaactt c.*900
. . . . . . g.79710
tggttcctgtgatacatttctgaatgggcaattccagaaatcttagtagcccatgttaag c.*960
. . . . . . g.79770
cttctattttttacttgttttcggggagaaataagaattagacatcttcagatttaagtt c.*1020
. . . . . . g.79830
aaataatcccattctttataatcctctgtaaaaagatccctgagattattccttcttcta c.*1080
. . . . . . g.79890
gttttatgcgacagctttactttaaaattcaagttatacatcttgggagtacaatggccc c.*1140
. . . . . . g.79950
gacatttcttcataggtagaaacaaatacttgactcagtgatactcatgaccattagaat c.*1200
. . . . . . g.80010
agtcatacctggaatgtgtcaaattataagagacagacacttggttagtggctgcctcat c.*1260
. . . . . . g.80070
atagcacttttgaagaggcctaagtcaaaacttgcaatataacattctattgactttctt c.*1320
. . . . . . g.80130
aaaaatattttttctgtacctaacttgagcataagggttatttgagcaagtaacattaac c.*1380
. . . . . . g.80190
tcagtggaaggcattgtcctgtgaaatattcttaggcagatctgcccacatctttattga c.*1440
. . . . . . g.80250
acttgaaatctaatatttctagtatttgaacaaagcagaaggttaagtcagggaagagca c.*1500
. . . . . . g.80310
gtgctgtccatgatgtaatggaagctaccaggggaggcagtgtctggatgatgctgtgct c.*1560
. . . . . . g.80370
acctacccctgcacaagccatgctggctcagtctgagctgtgggccacatcagctagtgg c.*1620
. . . . . . g.80430
ctcttctcatgcatcagttaggtgggtctgggtgagagttatagtgagggaatggtcact c.*1680
. . . . . . g.80490
aaagtatcctgacaagttcctaggaaaaaaggaataaagtttttttccttaaaaaaaaaa c.*1740
. . . . . . g.80550
aaattgctcttggctgtgaaaagaggtactaaatgcgattcagttcaccgctaaggaaag c.*1800
. . . . . . g.80610
tgatgacatagcagttacagagggtgataaatctctccagctaattcaggtcattttgtg c.*1860
. . . . . . g.80670
aatactatgtatcaagccctgaaaatatggtaaataaaacgtgacagggaaacctttttt c.*1920
. . . . . . g.80730
tgattgaatattgttacatagttaaatgtgctatatatccttaatattttatattgatcc c.*1980
. . . . . . g.80790
tgcaaaatctgttggttttaggggagttttgttttttgtttctaacaattttcagacctg c.*2040
. . . . . . g.80850
ttggtataggaatgtagaagtctttcagatgatttgaaagcagctgcatttgctcttgga c.*2100
. . . . . . g.80910
ggctttgggagagcaggaatgaaaacattcagaggaagacatctgtagggaattcttctg c.*2160
. . . . . . g.80970
ttacttaccaaagaataagtgtctttctggtgttttatttcctatcataaaaatacaaca c.*2220
. . . . . . g.81030
gtgcatttacaaggttaaagattcctcgaagttctaggaaattcttgaaaatataagtgg c.*2280
. . . . . . g.81090
tgcttagaaaattcaagcatttaggaatgtgacctttaattcaggtatgtaaaagacttt c.*2340
. . . . . . g.81150
tttcccaaacttttaaaagtaggaaatacaataaatacagaaaagtcatatggttgaata c.*2400
. . . . . . g.81210
aataattataaattgagcactgatggaatccctctacaggtcaagaaatagcgcagtgtc c.*2460
. . . . . . g.81270
ctggatgcccattatattgttttctcctttctgggtaacaagccctaacttctgtaattt c.*2520
. . . . . . g.81330
aaaagctcctacttttgccacaaggtggtgcttctgccattagacgcagttaggaggatg c.*2580
. . . . . . g.81390
caactgcaaatctaaaattacgaagttagtgtagttgcaataaacttagaacatatgcat c.*2640
. . . . . . g.81450
taatactaaacctatgcagtaataccataattagccttctaatcatgtaatttgctttac c.*2700
. . . . . . g.81510
ttaggtatttcatttggttcagcctgttatggaatttaccagcttgataaatttgcctat c.*2760
. . . . . . g.81570
aaagttttataaagaaaaggaatattttgttttcataaagaggaaaatccattcttagaa c.*2820
g.81575
aaaaa c.*2825
(downstream sequence)
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