(used for variant description)
(last modified July 17, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002485.4 in the NBN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering NBN transcript NM_002485.4.
(upstream sequence)
. . . . . g.5050
gagcgcgcacgtcccggagcccatgccgaccgcaggcgccgtatccgcgc c.-61
. . . . . . g.5110
tcgtctagcagccccggttacgcggttgcacgtcggccccagccctgaggagccggaccg c.-1
. . . | 02. . . g.6839
ATGTGGAAACTGCTGCCCGCCGCGGGCCCGGCAGGAG | GAGAACCATACAGACTTTTGACT c.60
M W K L L P A A G P A G G | E P Y R L L T p.20
. . . . . . g.6899
GGCGTTGAGTACGTTGTTGGAAGGAAAAACTGTGCCATTCTGATTGAAAATGATCAGTCG c.120
G V E Y V V G R K N C A I L I E N D Q S p.40
. . . . . | 03 . g.8157
ATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTG | AGTCAAACA c.180
I S R N H A V L T A N F S V T N L | S Q T p.60
. . . . . . g.8217
GATGAAATCCCTGTATTGACATTAAAAGATAATTCTAAGTATGGTACCTTTGTTAATGAG c.240
D E I P V L T L K D N S K Y G T F V N E p.80
. . . . . . g.8277
GAAAAAATGCAGAATGGCTTTTCCCGAACTTTGAAGTCGGGGGATGGTATTACTTTTGGA c.300
E K M Q N G F S R T L K S G D G I T F G p.100
. . | 04 . . . . g.8818
GTGTTTGGAAGTAAATTCAG | AATAGAGTATGAGCCTTTGGTTGCATGCTCTTCTTGTTTA c.360
V F G S K F R | I E Y E P L V A C S S C L p.120
. . . . . . g.8878
GATGTCTCTGGGAAAACTGCTTTAAATCAAGCTATATTGCAACTTGGAGGATTTACTGTA c.420
D V S G K T A L N Q A I L Q L G G F T V p.140
. . . . . . g.8938
AACAATTGGACAGAAGAATGCACTCACCTTGTCATGGTATCAGTGAAAGTTACCATTAAA c.480
N N W T E E C T H L V M V S V K V T I K p.160
| 05 . . . . . . g.11408
| ACAATATGTGCACTCATTTGTGGACGTCCAATTGTAAAGCCAGAATATTTTACTGAATTC c.540
| T I C A L I C G R P I V K P E Y F T E F p.180
. . . . | 06 . . g.18397
CTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCACAAATTGAAAG | TTTTTACCCACCTCTT c.600
L K A V E S K K Q P P Q I E S | F Y P P L p.200
. . . . . . g.18457
GATGAACCATCTATTGGAAGTAAAAATGTTGATCTGTCAGGACGGCAGGAAAGAAAACAA c.660
D E P S I G S K N V D L S G R Q E R K Q p.220
. . . . | 07 . . g.19132
ATCTTCAAAGGGAAAACATTTATATTTTTGAATGCCAAACAG | CATAAGAAATTGAGTTCC c.720
I F K G K T F I F L N A K Q | H K K L S S p.240
. . . . . . g.19192
GCAGTTGTCTTTGGAGGTGGGGAAGCTAGGTTGATAACAGAAGAGAATGAAGAAGAACAT c.780
A V V F G G G E A R L I T E E N E E E H p.260
. . . . . . g.19252
AATTTCTTTTTGGCTCCGGGAACGTGTGTTGTTGATACAGGAATAACAAACTCACAGACC c.840
N F F L A P G T C V V D T G I T N S Q T p.280
. . . . . | 08 . g.25168
TTAATTCCTGACTGTCAGAAGAAATGGATTCAGTCAATAATGGATATGCTCCAAAG | GCAA c.900
L I P D C Q K K W I Q S I M D M L Q R | Q p.300
. . . . . . g.25228
GGTCTTAGACCTATTCCTGAAGCAGAAATTGGATTGGCGGTGATTTTCATGACTACAAAG c.960
G L R P I P E A E I G L A V I F M T T K p.320
. . . | 09 . . . g.30843
AATTACTGTGATCCTCAGGGCCATCCCAGTACAG | GATTAAAGACAACAACTCCAGGACCA c.1020
N Y C D P Q G H P S T G | L K T T T P G P p.340
. . . . . . g.30903
AGCCTTTCACAAGGCGTGTCAGTTGATGAAAAACTAATGCCAAGCGCCCCAGTGAACACT c.1080
S L S Q G V S V D E K L M P S A P V N T p.360
. . . . | 10 . . g.34132
ACAACATACGTAGCTGACACAGAATCAGAGCAAGCAGATACATG | GGATTTGAGTGAAAGG c.1140
T T Y V A D T E S E Q A D T W | D L S E R p.380
. . . . . . g.34192
CCAAAAGAAATCAAAGTCTCCAAAATGGAACAAAAATTCAGAATGCTTTCACAAGATGCA c.1200
P K E I K V S K M E Q K F R M L S Q D A p.400
. . . . . . g.34252
CCCACTGTAAAGGAGTCCTGCAAAACAAGCTCTAATAATAATAGTATGGTATCAAATACT c.1260
P T V K E S C K T S S N N N S M V S N T p.420
. . . . . . g.34312
TTGGCTAAGATGAGAATCCCAAACTATCAGCTTTCACCAACTAAATTGCCAAGTATAAAT c.1320
L A K M R I P N Y Q L S P T K L P S I N p.440
. . . . . . g.34372
AAAAGTAAAGATAGGGCTTCTCAGCAGCAGCAGACCAACTCCATCAGAAACTACTTTCAG c.1380
K S K D R A S Q Q Q Q T N S I R N Y F Q p.460
. | 11. . . . . g.36023
CCGTCTACCAAAAAAAG | GGAAAGGGATGAAGAAAATCAAGAAATGTCTTCATGCAAATCA c.1440
P S T K K R | E R D E E N Q E M S S C K S p.480
. . . . . . g.36083
GCAAGAATAGAAACGTCTTGTTCTCTTTTAGAACAAACACAACCTGCTACACCCTCATTG c.1500
A R I E T S C S L L E Q T Q P A T P S L p.500
. . . . . . g.36143
TGGAAAAATAAGGAGCAGCATCTATCTGAGAATGAGCCTGTGGACACAAACTCAGACAAT c.1560
W K N K E Q H L S E N E P V D T N S D N p.520
. . . . . . g.36203
AACTTATTTACAGATACAGATTTAAAATCTATTGTGAAAAATTCTGCCAGTAAATCTCAT c.1620
N L F T D T D L K S I V K N S A S K S H p.540
. . . . . . g.36263
GCTGCAGAAAAGCTAAGATCAAATAAAAAAAGGGAAATGGATGATGTGGCCATAGAAGAT c.1680
A A E K L R S N K K R E M D D V A I E D p.560
. . . . . . g.36323
GAAGTATTGGAACAGTTATTCAAGGACACAAAACCAGAGTTAGAAATTGATGTGAAAGTT c.1740
E V L E Q L F K D T K P E L E I D V K V p.580
. . . . . . g.36383
CAAAAACAGGAGGAAGATGTCAATGTTAGAAAAAGGCCAAGGATGGATATAGAAACAAAT c.1800
Q K Q E E D V N V R K R P R M D I E T N p.600
. . . . | 12 . . g.41794
GACACTTTCAGTGATGAAGCAGTACCAGAAAGTAGCAAAATATCT | CAAGAAAATGAAATT c.1860
D T F S D E A V P E S S K I S | Q E N E I p.620
. . . . . | 13 . g.43382
GGGAAGAAACGTGAACTCAAGGAAGACTCACTATGGTCAGCTAAAGAAATATCT | AACAAT c.1920
G K K R E L K E D S L W S A K E I S | N N p.640
. . . . . . g.43442
GACAAACTTCAGGATGATAGTGAGATGCTTCCAAAAAAGCTGTTATTGACTGAATTTAGA c.1980
D K L Q D D S E M L P K K L L L T E F R p.660
. . . . . . g.43502
TCACTGGTGATTAAAAACTCTACTTCCAGAAATCCATCTGGCATAAATGATGATTATGGT c.2040
S L V I K N S T S R N P S G I N D D Y G p.680
. . . | 14 . . . g.46335
CAACTAAAAAATTTCAAGAAATTCAAAAAG | GTCACATATCCTGGAGCAGGAAAACTTCCA c.2100
Q L K N F K K F K K | V T Y P G A G K L P p.700
. . . . . . g.46395
CACATCATTGGAGGATCAGATCTAATAGCTCATCATGCTCGAAAGAATACAGAACTAGAA c.2160
H I I G G S D L I A H H A R K N T E L E p.720
. . | 15 . . . . g.52632
GAGTGGCTAAGGCAGGAAATGGAG | GTACAAAATCAACATGCAAAAGAAGAGTCTCTTGCT c.2220
E W L R Q E M E | V Q N Q H A K E E S L A p.740
. | 16 . . . g.54105
GATGATCTTTTTAG | ATACAATCCTTATTTAAAAAGGAGAAGATAA c.2265
D D L F R | Y N P Y L K R R R X p.754
. . . . . . g.54165
ctgaggattttaaaaagaagccatggaaaaacttcctagtaagcatctacttcaggccaa c.*60
. . . . . . g.54225
caaggttatatgaatatatagtgtatagaagcgatttaagttacaatgttttatggccta c.*120
. . . . . . g.54285
aatttattaaataaaatgcacaaaactttgattcttttgtatgtaacaattgtttgttct c.*180
. . . . . . g.54345
gttttcaggctttgtcattgcatctttttttcatttttaaatgtgttttgtttattaaat c.*240
. . . . . . g.54405
agttaatatagtcacagttcaaaattctaaatgtacgtaaggtaaagactaaagtcaccc c.*300
. . . . . . g.54465
ttccaccattgtcctagctacttggttcccctcagaaaaaaattcatgatactcatttct c.*360
. . . . . . g.54525
tatgaatctttccagggatttttgagtcctattcaaattcctatttttaaataatttcct c.*420
. . . . . . g.54585
acacaaatgatagcataacatatgcagtgttctacaccttgcttttttacttagtagatt c.*480
. . . . . . g.54645
aaaaattataggaatatcaatataatgtttttaatattttttcttttccattatgctgta c.*540
. . . . . . g.54705
gtcttacctaaactctggtgatccaaacaaaatggcttcagtggtgcagatgtcacctac c.*600
. . . . . . g.54765
atgttattctagtactagaaactgaagaccatgtggagacttcatcaaacatgggtttag c.*660
. . . . . . g.54825
ttttcaccagaatggaaagacctgtacccctttttggtggtcttactgagctgggtgggt c.*720
. . . . . . g.54885
gtctgttttgagcttatttagagtcctagttttcctacttataaagtagaaatggtgaga c.*780
. . . . . . g.54945
ttgttttctttttctaccttaaagggagatggtaagaaacaatgaatgtcttttttcaaa c.*840
. . . . . . g.55005
ctttattgacaagtgattttcaagtctgtgttcaaaaatatattcatgtacctgtgatcc c.*900
. . . . . . g.55065
agcaagaagggagttccagtcaagagtcactacaactgattagttgtttagagaatgaga c.*960
. . . . . . g.55125
aatggaacagtgaggaatggaggccatatttccatgacttcccttgtaaacagaagcaac c.*1020
. . . . . . g.55185
agaagggacaagaggctggcctctacatcactctcaccttccaaatcttgtggaagtgca c.*1080
. . . . . . g.55245
tctacttgccagaaccaaattaacttacttccaagttctggctgcttgcaggtggaactc c.*1140
. . . . . . g.55305
cagctgcaagggagttagggaaatgaaggtctttttttaaaagcttctcagccttcctag c.*1200
. . . . . . g.55365
ggaacagaaattgggtgagccaatctgcaatttctactacaggcattgagaccagttaga c.*1260
. . . . . . g.55425
ttattgaaatattatagagagttatgaacacttaaattatgatagtggtatgacattgga c.*1320
. . . . . . g.55485
tagaacatgggatactttagaagtagaattgacagggcatattagttgatgaaatggagt c.*1380
. . . . . . g.55545
catttgagtctcttaatagccatgtatcataattaccaagtgaagctggtggaacatatg c.*1440
. . . . . . g.55605
gtctccattttacagttaaggaatataatggacagattaatattgttctctgtcatgccc c.*1500
. . . . . . g.55665
acaatccctttctaaggaagactgccctactatagcagtttttatatttgtcaatttatg c.*1560
. . . . . . g.55725
aatataatgaatgagagttctggtacctcctgtctttacaaatattggtgttgtcagtat c.*1620
. . . . . . g.55785
ttttcctttttaaccattccaatcggtgtgtagtgatgtttcattttggttttaatttgt c.*1680
. . . . . . g.55845
atatccctgatagctataattgggtcatagaaattctttatacattctagatgcaagtct c.*1740
. . . . . . g.55905
cttgtcggatatatgtattgagatattacacctagtctgtggcttgactgttttctttat c.*1800
. . . . . . g.55965
gtcttttgatgaatagaagttttaaattttgacaaggtcaaatttatttttttcttttgt c.*1860
. . . . . . g.56025
ttgatattttttctctccaatttaaccccaagatttcagatattctgctctattatataa c.*1920
. . . . . . g.56085
actttatatttttatatttgtgatctaccttgaattgatatgtatgttgtgaattatgga c.*1980
. . . . . . g.56145
tcagggttctttttttcccccatacaagtatccagtcattgtaacactgtttattgaaag c.*2040
. . . . . . g.56205
aattatcctttcctcattaaattaccttgccaattagtaaaaaatcaattaaccataatg c.*2100
. . . . . . g.56265
gtggatctgtttctggactttctgtttggttacactgaaatgtttgtccatccttgcact c.*2160
. . . . . . g.56325
cactcataccatactgccttgaattactgtagctgcatagatgctccttaagttgggatt c.*2220
. . g.56351
acattgtaataaacgcaatgtaagtt c.*2246
(downstream sequence)
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