(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_181782.4 in the NCOA7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering NCOA7 transcript NM_181782.4.
(upstream sequence)
g.14611
atgccctga c.-361
. . . . . . g.14671
cggggggcgcagctgcggggctggcgaggcgtcgcgcgtgggaagaggcctaagacaccc c.-301
. . . . . . g.14731
cgactgcggcggctgcgcacacccgatccggacgcggggccccgcgggcgcgcgcctcgg c.-241
. . . . . . g.14791
agctcccgcctcctcctcttgctcctcctcggcgtacggtcctcccctgacccctccttc c.-181
. . . . . . g.14851
cacccgccgagaggatgcgctccccggcgcccagcagcagaggccaccgctcccagaaat c.-121
. . . . . . | 02 g.39134
gcatgcgaccgatccccttctcccggaccccaggagccggcgcccccgccctgtag | ggtt c.-61
. . . . . . g.39194
acgactcactgattaaaaagagggactttttcaaatactttgcacttttgattgtgtatt c.-1
. . . . . | 03 . g.78869
ATGGATACCAAGGAAGAGAAGAAGGAACGGAAACAAAGTTATTTTGCTCG | ACTGAAAAAG c.60
M D T K E E K K E R K Q S Y F A R | L K K p.20
. . . . . . g.78929
AAAAAACAAGCCAAACAAAATGCAGAGACAGCCTCAGCTGTAGCTACAAGGACTCATACT c.120
K K Q A K Q N A E T A S A V A T R T H T p.40
. . . . . . g.78989
GGGAAGGAAGATAATAATACAGTAGTTTTAGAGCCAGACAAGTGCAACATTGCTGTGGAA c.180
G K E D N N T V V L E P D K C N I A V E p.60
. . . . . . g.79049
GAGGAATATATGACTGATGAGAAAAAAAAGAGAAAAAGTAATCAGTTAAAGGAGATCAGG c.240
E E Y M T D E K K K R K S N Q L K E I R p.80
. . . | 04 . . . g.98757
CGTACAGAACTAAAGAGATATTATAGTATTG | ATGACAATCAAAACAAAACACATGATAAA c.300
R T E L K R Y Y S I D | D N Q N K T H D K p.100
. . . . . | 05 . g.102111
AAAGAGAAGAAGATGGTGGTTCAGAAGCCCCATGGGACTATGGAATACACT | GCTGGAAAC c.360
K E K K M V V Q K P H G T M E Y T | A G N p.120
. . . . . . g.102171
CAGGACACCCTAAACTCCATAGCACTGAAATTTAACATCACTCCCAATAAATTGGTGGAA c.420
Q D T L N S I A L K F N I T P N K L V E p.140
. . . | 06 . . g.104950
CTGAATAAACTTTTCACACATACTATTGTTCCAGGCCAG | GTCCTTTTTGTGCCAGATGCC c.480
L N K L F T H T I V P G Q | V L F V P D A p.160
. . . . . . g.105010
AACTCTCCTTCCAGTACCTTAAGGCTATCATCATCCAGTCCTGGTGCTACTGTCTCTCCT c.540
N S P S S T L R L S S S S P G A T V S P p.180
. . . | 07 . . . g.106292
TCATCATCAGATGCAGAATATGATAAATTGCCT | GATGCTGACTTAGCACGAAAGGCCTTG c.600
S S S D A E Y D K L P | D A D L A R K A L p.200
. . . . . . g.106352
AAACCCATTGAAAGAGTCTTATCGTCTACTTCTGAAGAAGATGAGCCAGGTGTGGTGAAA c.660
K P I E R V L S S T S E E D E P G V V K p.220
. . . | 08 . . g.109019
TTTTTAAAAATGAATTGTCGATACTTCACCGATGGAAAG | GGTGTGGTTGGCGGTGTTATG c.720
F L K M N C R Y F T D G K | G V V G G V M p.240
. . . . . . g.109079
ATAGTGACTCCTAACAACATCATGTTTGACCCTCATAAATCTGATCCTCTGGTTATTGAA c.780
I V T P N N I M F D P H K S D P L V I E p.260
. . . . . . g.109139
AATGGGTGTGAGGAGTATGGTCTCATCTGCCCCATGGAAGAGGTTGTTTCCATTGCGCTC c.840
N G C E E Y G L I C P M E E V V S I A L p.280
. . . . | 09 . . g.112794
TACAATGACATTTCTCACATGAAGATCAAAGATGCCTTGCCATC | TGACCTACCTCAGGAT c.900
Y N D I S H M K I K D A L P S | D L P Q D p.300
. . . . . . g.112854
CTTTGTCCTCTGTACAGGCCTGGAGAATGGGAAGACCTGGCTTCAGAAAAGGATATCAAC c.960
L C P L Y R P G E W E D L A S E K D I N p.320
. . . . . . g.112914
CCATTCAGTAAGTTCAAATCTATCAACAAGGAAAAACGACAGCAGAATGGAGAGAAAATT c.1020
P F S K F K S I N K E K R Q Q N G E K I p.340
. . . . . . g.112974
ATGACTTCGGATTCCAGACCAATAGTACCTTTGGAGAAGTCCACAGGACATACACCTACA c.1080
M T S D S R P I V P L E K S T G H T P T p.360
. . . . . . g.113034
AAGCCCTCAGGCAGCTCTGTGTCAGAGAAATTAAAGAAACTGGACTCCTCTAGGGAGACA c.1140
K P S G S S V S E K L K K L D S S R E T p.380
. . . . . . g.113094
TCCCATGGTTCTCCCACAGTGACTAAGCTCAGCAAGGAACCTTCCGACACTTCTTCTGCA c.1200
S H G S P T V T K L S K E P S D T S S A p.400
. . . . . . g.113154
TTTGAATCTACAGCCAAAGAAAACTTTCTAGGGGAAGATGATGATTTTGTTGACTTGGAA c.1260
F E S T A K E N F L G E D D D F V D L E p.420
. . . . . . g.113214
GAACTTTCTTCTCAAACTGGTGGTGGAATGCACAAAAAAGACACCTTGAAGGAGTGCCTT c.1320
E L S S Q T G G G M H K K D T L K E C L p.440
. . . . . . g.113274
TCTCTTGACCCAGAGGAACGAAAGAAAGCTGAGTCACAAATAAACAATTCTGCCGTGGAA c.1380
S L D P E E R K K A E S Q I N N S A V E p.460
. . . . . . g.113334
ATGCAGGTGCAGTCAGCCCTAGCCTTTTTGGGAACAGAGAATGATGTTGAACTGAAGGGG c.1440
M Q V Q S A L A F L G T E N D V E L K G p.480
. . . . . . g.113394
GCGCTAGATTTAGAAACCTGTGAGAAGCAAGATATAATGCCAGAAGTGGACAAGCAGTCT c.1500
A L D L E T C E K Q D I M P E V D K Q S p.500
. . . . . . g.113454
GGTTCGCCAGAAAGCCGAGTAGAAAACACACTGAACATACATGAAGATTTAGATAAAGTT c.1560
G S P E S R V E N T L N I H E D L D K V p.520
. . . . . . g.113514
AAACTCATTGAATATTACCTGACTAAGAACAAAGAAGGGCCACAGGTATCTGAAAATTTG c.1620
K L I E Y Y L T K N K E G P Q V S E N L p.540
. . . . . . g.113574
CAGAAAACAGAATTAAGTGATGGAAAAAGTATTGAACCAGGGGGAATAGACATTACCCTT c.1680
Q K T E L S D G K S I E P G G I D I T L p.560
. . . . . . g.113634
AGTAGTTCTCTTTCCCAGGCGGGTGATCCCATAACTGAGGGCAATAAAGAGCCAGATAAG c.1740
S S S L S Q A G D P I T E G N K E P D K p.580
. . . . . . g.113694
ACCTGGGTGAAAAAGGGAGAGCCCCTCCCGGTAAAACTGAACTCTTCTACAGAAGCAAAT c.1800
T W V K K G E P L P V K L N S S T E A N p.600
. . . . . . g.113754
GTGATTAAAGAGGCTCTAGACTCCTCTTTGGAATCTACTCTGGACAACAGCTGTCAAGGT c.1860
V I K E A L D S S L E S T L D N S C Q G p.620
. . . . . . g.113814
GCACAAATGGATAATAAATCTGAAGTTCAGTTGTGGCTGTTAAAGAGAATTCAGGTACCC c.1920
A Q M D N K S E V Q L W L L K R I Q V P p.640
| 10. . . . . . g.114534
ATTGAAG | ATATACTTCCTTCAAAAGAAGAAAAAAGCAAGACCCCACCCATGTTCCTGTGC c.1980
I E D | I L P S K E E K S K T P P M F L C p.660
. . . . . . g.114594
ATCAAAGTGGGAAAACCAATGAGAAAATCCTTTGCCACTCACACTGCAGCCATGGTCCAG c.2040
I K V G K P M R K S F A T H T A A M V Q p.680
. . . . . | 11 . g.139176
CAGTACGGCAAACGGAGAAAGCAGCCAGAGTACTGGTTTGCTGTTCCTCGGGAGAG | GGTG c.2100
Q Y G K R R K Q P E Y W F A V P R E R | V p.700
. . . . . . g.139236
GATCATTTGTACACATTCTTTGTTCAGTGGTCTCCCGATGTCTATGGAAAAGATGCCAAA c.2160
D H L Y T F F V Q W S P D V Y G K D A K p.720
. . . . . . g.139296
GAGCAAGGCTTTGTGGTGGTGGAGAAGGAAGAACTGAACATGATTGACAACTTCTTCAGT c.2220
E Q G F V V V E K E E L N M I D N F F S p.740
. . | 12 . . . . g.144818
GAGCCAACAACCAAGAGCTGGGAG | ATCATCACTGTTGAAGAGGCAAAGCGCAGGAAGAGC c.2280
E P T T K S W E | I I T V E E A K R R K S p.760
. . . . . . g.144878
ACATGCAGCTACTATGAAGACGAGGACGAAGAGGTGCTGCCTGTCCTACGGCCCCACAGC c.2340
T C S Y Y E D E D E E V L P V L R P H S p.780
. . . | 13 . . . g.146551
GCGCTCCTGGAGAATATGCACATCGAGCAG | CTGGCCCGACGCCTTCCTGCAAGGGTGCAA c.2400
A L L E N M H I E Q | L A R R L P A R V Q p.800
. . . . . . g.146611
GGGTATCCATGGAGACTGGCCTATAGCACGTTAGAGCACGGGACCAGCTTAAAGACGCTC c.2460
G Y P W R L A Y S T L E H G T S L K T L p.820
. . . . . . g.146671
TACCGGAAATCGGCATCACTAGACAGTCCTGTCCTATTGGTCATCAAAGATATGGATAAT c.2520
Y R K S A S L D S P V L L V I K D M D N p.840
| 14 . . . . . . g.151559
CAG | ATTTTTGGAGCATATGCAACTCATCCTTTCAAGTTCAGTGACCACTATTATGGCACA c.2580
Q | I F G A Y A T H P F K F S D H Y Y G T p.860
. . . | 15 . . g.152034
GGCGAAACTTTTCTCTACACATTCAGCCCTCATTTTAAG | GTCTTTAAGTGGAGTGGAGAA c.2640
G E T F L Y T F S P H F K | V F K W S G E p.880
. . . . . | 16 . g.152482
AATTCATACTTTATCAATGGAGACATAAGTTCTTTAGAACTTGGTGGTGGAGG | GGGACGA c.2700
N S Y F I N G D I S S L E L G G G G | G R p.900
. . . . . . g.152542
TTTGGTTTATGGCTAGATGCTGATTTATACCACGGACGAAGCAACTCTTGCAGCACTTTC c.2760
F G L W L D A D L Y H G R S N S C S T F p.920
. . . . . . g.152602
AATAATGATATTCTTTCCAAAAAGGAAGACTTCATAGTTCAGGATCTGGAGGTGTGGGCA c.2820
N N D I L S K K E D F I V Q D L E V W A p.940
g.152611
TTTGATTGA c.2829
F D X p.942
. . . . . . g.152671
aattcagactgccttaaaatataacattaaaaagactgggttcgatcagccctcctaaag c.*60
. . . . . . g.152731
ctggctggaaaaagaagccccagcccagcctgcctcatcccaccccaatgcttcctttct c.*120
. . . . . . g.152791
gccatcatctcagagcatgatcacattgcagaaagattctggaaggtccatgtagagggc c.*180
. . . . . . g.152851
agacattgaagaaagaaacttaaaatccaggttgttgaaaagactttgtactcccacttc c.*240
. . . . . . g.152911
ctccaaatccatacagtgaggaatcagagtgtttatagatatatgagttgaatgcaattt c.*300
. . . . . . g.152971
ttatttttggtaactgtgaaaaataagatactgtggatatatacatgccttgtgtattta c.*360
. . . . . . g.153031
tcagcataattttcattaccaaaatgtacagctattatttgccatggaaaaggttagtct c.*420
. . . . . . g.153091
catttagaaaaatcgaaagtgcacagcacttaaagggaatatatgaggtttttttttttt c.*480
. . . . . . g.153151
taaaaaaaaacttttatttattatttgtagtatattgtctgaaatgtgtcggcagttttt c.*540
. . . . . . g.153211
tttcttttaatgtgtcaaatcttgaaatattaaatgtatacattttgtgctatgttttgg c.*600
. . . . . . g.153271
gaacaaatctgtttgatttatatagttttatattgaattttttttgccctgattgtttag c.*660
. . . . . . g.153331
ggtgataggtcttaagcagcatatatctatatatctgtatgtgggtatatagagatatat c.*720
. . . . . . g.153391
gtgtgtgtgtatgtatatgtacatatacatatatatgagtgtataattctaaatttctaa c.*780
. . . . . . g.153451
aaactcattatgaatgttcatcaatttgactattataggccagctttccatttagtcaat c.*840
. . . . . . g.153511
aaaagcgtacatttttagttacttaccttgaacatattcgtgtgaaaaagaatacatcat c.*900
. . . . . . g.153571
ttctcacagtcttaagttgatatttatagaaatgaatacctttgtgaacctagacttaga c.*960
. . . . . . g.153631
acaaatcctgcttttgaaaaaaaatgttttgcttcttacaaaatcatttgtgttaataac c.*1020
. . . . . . g.153691
aaaaactttattttcggagtgttctttgtataacttttccaagcttttacattaacgagc c.*1080
. . . . . . g.153751
aggcctctgtcttaaaagggactcagtatattaatttctgcattttttaaatcaaatgaa c.*1140
. . . . . . g.153811
aaacgtcaaattggaccaattgtcttggtttcttgattcatttatttgagaaaaaaacaa c.*1200
. . . . . . g.153871
tacaaagaaatgcattcatatcaaaattggaatagaaaggaaaacctatttttaagatat c.*1260
. . . . . . g.153931
caacctattttcacatcataaaacatctattacataaaataaaggtccaggcatagtggc c.*1320
. . . . . . g.153991
tcttgcctgtaatcccagcactttgggaggccgaggcaggtggatcactcaaggtcacaa c.*1380
. . . . . . g.154051
gtttgagaccagtctggccaacatggtgaaaccccatctctactaaaagtacaaatatta c.*1440
. . . . . . g.154111
gccgactatgtggcgggcacctgtaatcccacctactcgggaggctgaggcaggagaatt c.*1500
. . . . . . g.154171
gcttgaatccgggaagcagaggttgtagtgagccaagatcgtgccactgcactctatcct c.*1560
. . . . . . g.154231
gggtaacagcgagactctgtcttaaaaataataacaataataataataataaagacttac c.*1620
. . . . . . g.154291
ttaaccaatattattgattaccagacttttatgaaagccaaagactgcttgctagtagga c.*1680
. . . . . . g.154351
aaaaatttcaaataataaccaaagctgaaaaatggtctgtcataaattatttccccggta c.*1740
. . . . . . g.154411
atttttgaaaggaaaaatgtataacaagtactatttacatatctgcatttaaaaaagcaa c.*1800
. . . . . . g.154471
ttcttagaatacttcctttacattattctcctattttagacattttgtgaaagagaacaa c.*1860
. . . . . . g.154531
attgtccagtggcctcctgtcagatcaacaattattatactccttaattccatgcaaatt c.*1920
. . . . . . g.154591
taaatgaatgctataaaattttaaatctgtagcctgggtgtacgtttcactcaagttctc c.*1980
. . . . . . g.154651
ctactgaggactcttgactaacagcatactggcagtttcaccttaacctgctcgttaaat c.*2040
. . . . . . g.154711
aatgtgttggtgtgagatatcaggaatgtctcatgatatcacgtttaccatttacaccat c.*2100
. . . . . . g.154771
ctgcaaccatatgctattaataaaatggaaaaaaacaaaatggtcattttgcatatactt c.*2160
. . . . . . g.154831
cactctgacctagtttagtccatgatactataattgtgagagcatatccagatgctgtgt c.*2220
. . . . . . g.154891
tctctatgtaaaacagtattgtccattcagaaatgtgtgacccttcatttatggatattg c.*2280
. . . . . . g.154951
actatatgtaatgcagtgctatcccaatattttcaataaaggactttatgcattcagtga c.*2340
. . . . . . g.155011
ttttctttcccaaagattcattcatcaggtatttactgggtaccagagtgtttatttttg c.*2400
. . . . . . g.155071
tgagaggatggtgaaatatccaagactaaacaaggtccagagctcatgttttcactgctg c.*2460
. . . . . . g.155131
ccctggaaactccctcttcattccctgtagccaccctcctaattgtctcatcagttcacg c.*2520
. . . . . . g.155191
gaaactgctctcattatggttaccagagacaactcttggctgtatctaccagtctcttct c.*2580
. . . . . . g.155251
aatctttctagctgtgcaatgaatgacaacctcctcctcttaacatctgtcttaacctac c.*2640
. . . . . . g.155311
ttcataatttccgtaagggacactttactctctgataaattttctttggcatcctgacac c.*2700
. . . . . . g.155371
ctagcccctagatgttgggctagatgaagaccccaagcagtcttcattgcttcataattc c.*2760
. . . . . . g.155431
ctcagttcataagtccatatcaaaggacttgggtgggaggaggcaaccaaatgtttcttc c.*2820
. . . . . . g.155491
agactctactgaaaatgattagatgcatccccgtgctacaagccaccagagacatcctgc c.*2880
. . . . . . g.155551
actattataagtatgtcttcccttaatttgatctccctctccttgatgccttttaaagtt c.*2940
. . . . . . g.155611
ttagagacacattgatatggtttggctgtgtgtccccaccaacatctcattggaattata c.*3000
. . . . . . g.155671
atccccacatgttgagggagggacctagtgggatgtgattagaacatgggggcggtttcc c.*3060
. . . . . . g.155731
cccatgctgttctcatgatagtgagggagttttcatgagatctgttttaaaatgtttggc c.*3120
. . . . . . g.155791
agttccaccctcaccctctcttctgctgccatgtaagatgtgccttgcttcccctttgcc c.*3180
. . . . . . g.155851
ttctgccatgattgtaaatttcctgacgcctacccagccatgtgaaactgtgagtccatt c.*3240
. g.155870
aaacctcttttctttataa c.*3259
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center