(used for variant description)
(last modified February 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_181442.1 in the ADNP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering ADNP transcript NM_181442.1.
(upstream sequence)
. . . . . g.5050
cggccgcggcgcgagccggagtccgccgagccggagcgcgacgaggcccc c.-121
. . . . . . g.5110
gggcgcgccctccccgctgccgccaccgccgtgccgccgccatccgcccgccgccgccgc c.-61
. . . . . . | 02 g.31994
cgctgtccggcccccgagcacgccggccccgcgcgcgcctcgaggccgagtcaag | aaact c.-1
. . . . . . g.32054
ATGTTCCAACTTCCTGTCAACAATCTTGGCAGTTTAAGAAAAGCCCGGAAAACTGTGAAA c.60
M F Q L P V N N L G S L R K A R K T V K p.20
. . . . | 03 . g.33893
AAAATACTTAGTGACATTGGGTTGGAATACTGTAAAGAACATATAGAA | GATTTTAAACAA c.120
K I L S D I G L E Y C K E H I E | D F K Q p.40
. . . . . . g.33953
TTTGAACCTAATGACTTTTATTTGAAAAACACTACATGGGAGGATGTAGGACTGTGGGAC c.180
F E P N D F Y L K N T T W E D V G L W D p.60
. . | 04 . . . . g.41517
CCATCACTTACGAAAAACCAG | GACTATCGGACAAAACCTTTCTGCTGCAGCGCTTGTCCA c.240
P S L T K N Q | D Y R T K P F C C S A C P p.80
. . . . . . g.41577
TTTTCCTCAAAATTCTTCTCTGCCTACAAAAGTCATTTCCGCAATGTCCATAGTGAAGAC c.300
F S S K F F S A Y K S H F R N V H S E D p.100
. . . . . . g.41637
TTTGAAAATAGGATTCTCCTTAATTGCCCCTACTGTACCTTCAATGCAGACAAAAAGACT c.360
F E N R I L L N C P Y C T F N A D K K T p.120
. . . . . . g.41697
TTGGAAACACACATTAAAATATTTCATGCTCCGAACGCCAGCGCACCAAGTAGCAGCCTC c.420
L E T H I K I F H A P N A S A P S S S L p.140
. . . . . . g.41757
AGCACTTTCAAAGATAAAAACAAAAATGATGGCCTTAAACCTAAGCAGGCTGACAGTGTA c.480
S T F K D K N K N D G L K P K Q A D S V p.160
. . . . . . g.41817
GAGCAAGCTGTTTATTACTGTAAGAAGTGCACTTACCGAGATCCTCTTTATGAAATAGTT c.540
E Q A V Y Y C K K C T Y R D P L Y E I V p.180
. . . . . . g.41877
AGGAAGCACATTTACAGGGAACATTTTCAGCATGTGGCAGCACCTTACATAGCAAAGGCA c.600
R K H I Y R E H F Q H V A A P Y I A K A p.200
. . . . . . g.41937
GGAGAAAAATCACTCAATGGGGCAGTCCCCTTAGGCTCGAATGCCCGAGAAGAGAGTAGT c.660
G E K S L N G A V P L G S N A R E E S S p.220
. . . . . . g.41997
ATTCACTGCAAGCGATGCCTTTTCATGCCAAAGTCCTATGAAGCTTTGGTACAGCATGTC c.720
I H C K R C L F M P K S Y E A L V Q H V p.240
. . . . . . g.42057
ATCGAAGACCATGAACGTATAGGCTATCAGGTCACTGCCATGATTGGGCACACAAATGTA c.780
I E D H E R I G Y Q V T A M I G H T N V p.260
. . . . . . g.42117
GTGGTTCCCCGATCCAAACCCTTGATGCTAATTGCTCCCAAACCTCAAGACAAGAAGAGC c.840
V V P R S K P L M L I A P K P Q D K K S p.280
. . . . . . g.42177
ATGGGACTCCCACCAAGGATCGGTTCCCTTGCTTCTGGAAATGTCCGGTCTTTACCATCA c.900
M G L P P R I G S L A S G N V R S L P S p.300
. . . . . . g.42237
CAGCAGATGGTGAATCGACTCTCAATACCAAAGCCTAACTTAAATTCTACAGGAGTCAAC c.960
Q Q M V N R L S I P K P N L N S T G V N p.320
. . . . . . g.42297
ATGATGTCCAGTGTTCATCTGCAGCAGAACAACTATGGAGTCAAATCTGTAGGCCAGGGT c.1020
M M S S V H L Q Q N N Y G V K S V G Q G p.340
. . . . . . g.42357
TACAGTGTTGGTCAGTCAATGAGACTGGGTCTAGGTGGCAACGCACCAGTTTCCATTCCT c.1080
Y S V G Q S M R L G L G G N A P V S I P p.360
. . . . . . g.42417
CAACAATCTCAGTCTGTAAAGCAGTTACTTCCAAGTGGAAACGGAAGGTCTTATGGGCTT c.1140
Q Q S Q S V K Q L L P S G N G R S Y G L p.380
. . . . . . g.42477
GGGTCAGAGCAGAGGTCCCAGGCACCAGCAAGATACTCCCTGCAGTCTGCTAATGCCTCT c.1200
G S E Q R S Q A P A R Y S L Q S A N A S p.400
. . . . . . g.42537
TCTCTCTCATCGGGCCAGTTAAAGTCTCCTTCCCTCTCTCAGTCACAGGCATCCAGAGTG c.1260
S L S S G Q L K S P S L S Q S Q A S R V p.420
. . . . . . g.42597
TTAGGTCAGTCCAGTTCCAAACCTGCTGCAGCTGCCACAGGCCCTCCCCCAGGTAACACT c.1320
L G Q S S S K P A A A A T G P P P G N T p.440
. . . . . . g.42657
TCCTCAACTCAAAAGTGGAAAATATGTACAATCTGTAATGAGCTTTTTCCTGAAAATGTC c.1380
S S T Q K W K I C T I C N E L F P E N V p.460
. . . . . . g.42717
TATAGTGTGCACTTCGAAAAAGAACATAAAGCTGAGAAAGTCCCAGCAGTAGCCAACTAC c.1440
Y S V H F E K E H K A E K V P A V A N Y p.480
. . . . . . g.42777
ATTATGAAAATACACAATTTTACTAGCAAATGCCTCTACTGTAATCGCTATTTACCCACA c.1500
I M K I H N F T S K C L Y C N R Y L P T p.500
. . . . . . g.42837
GATACTCTGCTCAACCATATGTTAATTCATGGTCTGTCTTGTCCATATTGCCGTTCAACT c.1560
D T L L N H M L I H G L S C P Y C R S T p.520
. . . . . . g.42897
TTCAATGATGTGGAAAAGATGGCCGCACACATGCGGATGGTTCACATTGATGAAGAGATG c.1620
F N D V E K M A A H M R M V H I D E E M p.540
. . . . . . g.42957
GGACCTAAAACAGATTCTACTTTGAGTTTTGATTTGACATTGCAGCAGGGTAGTCACACT c.1680
G P K T D S T L S F D L T L Q Q G S H T p.560
. . . . . . g.43017
AACATCCATCTCCTGGTAACTACATACAATCTGAGGGATGCCCCAGCTGAATCTGTTGCT c.1740
N I H L L V T T Y N L R D A P A E S V A p.580
. . . . . . g.43077
TACCATGCCCAAAATAATCCTCCAGTTCCTCCAAAGCCACAGCCAAAGGTTCAGGAAAAG c.1800
Y H A Q N N P P V P P K P Q P K V Q E K p.600
. . . . . . g.43137
GCAGATATCCCTGTAAAAAGTTCACCTCAAGCTGCAGTGCCCTATAAAAAAGATGTTGGG c.1860
A D I P V K S S P Q A A V P Y K K D V G p.620
. . . . . . g.43197
AAAACCCTTTGTCCTCTTTGCTTTTCAATCCTAAAAGGACCCATATCTGATGCACTTGCA c.1920
K T L C P L C F S I L K G P I S D A L A p.640
. . . . . . g.43257
CATCACTTACGAGAGAGGCACCAAGTTATTCAGACGGTTCATCCAGTTGAGAAAAAGCTC c.1980
H H L R E R H Q V I Q T V H P V E K K L p.660
. . . . . . g.43317
ACCTACAAATGTATCCATTGCCTTGGTGTGTATACCAGCAACATGACCGCCTCAACTATC c.2040
T Y K C I H C L G V Y T S N M T A S T I p.680
. . . . . . g.43377
ACTCTGCATCTAGTTCACTGCAGGGGCGTTGGAAAGACCCAAAATGGCCAGGATAAGACA c.2100
T L H L V H C R G V G K T Q N G Q D K T p.700
. . . . . . g.43437
AATGCACCCTCTCGGCTTAATCAGTCTCCAAGTCTGGCACCTGTGAAGCGCACTTACGAG c.2160
N A P S R L N Q S P S L A P V K R T Y E p.720
. . . . . . g.43497
CAAATGGAATTTCCCTTACTGAAAAAACGAAAGTTAGATGATGATAGTGATTCACCCAGC c.2220
Q M E F P L L K K R K L D D D S D S P S p.740
. . . . . . g.43557
TTCTTTGAAGAGAAGCCTGAAGAGCCTGTTGTTTTAGCTTTAGACCCCAAGGGTCATGAA c.2280
F F E E K P E E P V V L A L D P K G H E p.760
. . . . . . g.43617
GATGATTCCTATGAAGCCAGGAAAAGCTTTCTAACAAAGTATTTCAACAAACAGCCCTAT c.2340
D D S Y E A R K S F L T K Y F N K Q P Y p.780
. . . . . . g.43677
CCCACCAGGAGAGAAATTGAGAAGCTAGCAGCCAGTTTATGGTTATGGAAGAGTGACATC c.2400
P T R R E I E K L A A S L W L W K S D I p.800
. . . . . . g.43737
GCTTCCCATTTTAGTAACAAAAGGAAGAAGTGTGTCCGTGATTGTGAAAAGTACAAGCCT c.2460
A S H F S N K R K K C V R D C E K Y K P p.820
. . . . . . g.43797
GGCGTGTTGCTGGGGTTTAACATGAAAGAATTAAATAAAGTCAAGCATGAGATGGATTTT c.2520
G V L L G F N M K E L N K V K H E M D F p.840
. . . . . . g.43857
GATGCTGAGTGGCTATTTGAAAATCATGATGAGAAGGATTCCAGAGTCAATGCTAGTAAG c.2580
D A E W L F E N H D E K D S R V N A S K p.860
. . . . . . g.43917
ACTGCTGACAAAAAGCTCAACCTTGGGAAGGAAGATGACAGTTCCTCAGACAGTTTTGAA c.2640
T A D K K L N L G K E D D S S S D S F E p.880
. . . . . . g.43977
AATTTGGAAGAAGAATCCAATGAAAGTGGTAGCCCTTTTGACCCTGTTTTTGAAGTTGAA c.2700
N L E E E S N E S G S P F D P V F E V E p.900
. . . . . . g.44037
CCTAAAATCTCTAACGATAACCCAGAGGAACATGTACTGAAGGTAATTCCTGAGGATGCT c.2760
P K I S N D N P E E H V L K V I P E D A p.920
. . . . . . g.44097
TCAGAATCTGAGGAGAAGCTAGACCAAAAAGAGGATGGTTCAAAATACGAAACTATTCAT c.2820
S E S E E K L D Q K E D G S K Y E T I H p.940
. . . . . . g.44157
TTGACTGAGGAACCAACCAAACTAATGCACAATGCATCTGATAGTGAGGTTGACCAAGAC c.2880
L T E E P T K L M H N A S D S E V D Q D p.960
. . . . . . g.44217
GATGTTGTTGAGTGGAAAGACGGTGCTTCTCCATCTGAGAGTGGGCCTGGATCCCAACAA c.2940
D V V E W K D G A S P S E S G P G S Q Q p.980
. . . . . . g.44277
GTGTCAGACTTTGAGGACAATACCTGCGAAATGAAACCAGGAACCTGGTCTGACGAGTCT c.3000
V S D F E D N T C E M K P G T W S D E S p.1000
. . . . . . g.44337
TCCCAAAGCGAAGATGCAAGGAGCAGTAAGCCAGCTGCCAAAAAAAAGGCTACCATGCAA c.3060
S Q S E D A R S S K P A A K K K A T M Q p.1020
. . . . . . g.44397
GGTGACAGAGAGCAGTTGAAATGGAAGAATAGTTCCTATGGAAAAGTTGAAGGGTTTTGG c.3120
G D R E Q L K W K N S S Y G K V E G F W p.1040
. . . . . . g.44457
TCTAAGGACCAGTCACAGTGGAAGAATGCATCTGAGAATGATGAGCGCTTATCTAACCCC c.3180
S K D Q S Q W K N A S E N D E R L S N P p.1060
. . . . . . g.44517
CAGATTGAGTGGCAGAATAGCACAATTGACAGTGAGGATGGGGAACAGTTTGACAACATG c.3240
Q I E W Q N S T I D S E D G E Q F D N M p.1080
. . . . . . g.44577
ACTGATGGAGTAGCTGAGCCCATGCATGGCAGCTTAGCCGGAGTTAAACTGAGCAGCCAA c.3300
T D G V A E P M H G S L A G V K L S S Q p.1100
g.44586
CAGGCCTAA c.3309
Q A X p.1102
. . . . . . g.44646
gtgccaggttccctggcgttggtgacatgctgcagcctggaactctgatatccagtgtga c.*60
. . . . . . g.44706
ctgcaaagctgtcttctcactggtactgccttgtgagtactggttggactgtggggcatg c.*120
. . . . . . g.44766
tggccgctgcagttccagtggttatttctaagtctatgacaggacaggctgttcttgctt c.*180
. . . . . . g.44826
cagaaccttctctgacagacacggtaactaaatgtgaaaaaccaataagctggtgactca c.*240
. . . . . . g.44886
tgaatacacacgaggaaaagcagaggtttattttatctgccttttcaacatttctttccc c.*300
. . . . . . g.44946
tctgtgaaatgattggtcagatgtctttgagaagtgttaaactaattcacatggtagtgt c.*360
. . . . . . g.45006
agggccaacatacaagctaccagtctaatgtgtatagtagactttgggaaaagcgatttt c.*420
. . . . . . g.45066
ttttcatgtattcattctgaatagttgaaatgtatatttgtacagtcttttagacctatt c.*480
. . . . . . g.45126
caagtgatgctcatgatcctgttactgtgtgcccatcatagatttctttttttagtgttg c.*540
. . . . . . g.45186
cccttgctgtgtaataaacgctctatctagtttacctagcaaaagctcaaaactgcgcta c.*600
. . . . . . g.45246
gtatggactttttggacagacttagtttttgcacataaccttgtacaatcttgcaacaga c.*660
. . . . . . g.45306
ggccagccacgtaagatatatatctggactctcttgtattataggatttttcttgttctg c.*720
. . . . . . g.45366
aatatccttgacattacagctgtcaaaaacaaaaactggtatttcagatctgttttctga c.*780
. . . . . . g.45426
aatcttttaagctaaaatcacatgcaagaattgactttgcagctactaattttgacacct c.*840
. . . . . . g.45486
tttagatctgtataaaagtgtgttgtgttgaagcagcaaaccaatgagtgctgcattttg c.*900
. . . . . . g.45546
gatatttagttttatctttagttcaacaccatcatggtggattcatttataccatctaat c.*960
. . . . . . g.45606
atatgacacactgttgtagtatgtataattttgtgatctttattttccctttgtattcat c.*1020
. . . g.45645
tttaagcatctaaataaattgctgtattgtgcttaatgt c.*1059
(downstream sequence)
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