(used for variant description)
(last modified February 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_014461.2 in the CNTN6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering CNTN6 transcript NM_014461.2.
(upstream sequence)
. . g.5027
gcaatactcagtggataaaaggcttgc c.-241
. . . . . . g.5087
agtcccagctgggaaaaagagtcccattatctcccagctgcatagacattccatacggct c.-181
. . . . . . g.5147
tggttctgcctggacgcacagcatgcctggctgagagcttgaaacagagttctgcagaaa c.-121
. . . . | 02. . g.60004
aactgtaaagatcccgagacatttccctggtaagatct | actcttgagatactgactggaa c.-61
. . . . . . g.60064
gatagactgttttgttccacctgattgtatgggagaaatttttgaccttagaaagtggaa c.-1
. . . . . | 03 . g.132747
ATGAGGTTGCTATGGAAACTGGTAATTCTGCTGCCACTCATAAACTCTTCTGCAG | GTGAT c.60
M R L L W K L V I L L P L I N S S A G | D p.20
. . . . . . g.132807
GGTCTTTTAAGCCGTCCTATTTTTACTCAGGAGCCACATGATGTCATTTTTCCTTTGGAT c.120
G L L S R P I F T Q E P H D V I F P L D p.40
. . . . . . g.132867
TTATCAAAATCTGAGGTCATCCTGAATTGTGCTGCTAATGGTTACCCTTCGCCTCATTAT c.180
L S K S E V I L N C A A N G Y P S P H Y p.60
| 04 . . . . . . g.139931
AG | GTGGAAGCAAAATGGCACAGACATTGATTTTACTATGAGTTATCACTACAGGTTGGAT c.240
R | W K Q N G T D I D F T M S Y H Y R L D p.80
. . . . . . g.139991
GGAGGCAGTCTTGCAATCAATAGCCCCCACACAGATCAAGATATTGGCATGTACCAGTGC c.300
G G S L A I N S P H T D Q D I G M Y Q C p.100
. . . . . | 05 g.190470
CTGGCCACCAATCTTCTGGGGACAATTCTGAGTCGGAAGGCAAAGCTCCAATTTGCAT | AT c.360
L A T N L L G T I L S R K A K L Q F A Y | p.120
. . . . . . g.190530
ATTGAAGACTTTGAAACTAAAACAAGAAGCACAGTATCTGTCCGAGAAGGTCAAGGTGTG c.420
I E D F E T K T R S T V S V R E G Q G V p.140
. . . | 06 . . . g.207682
GTGCTTCTCTGTGGCCCACCGCCACATTTTGGAG | ATTTATCTTATGCATGGACCTTCAAT c.480
V L L C G P P P H F G D | L S Y A W T F N p.160
. . . . . . g.207742
GATAACCCCTTATACGTCCAAGAGGACAATAGGCGATTTGTATCTCAAGAGACGGGAAAC c.540
D N P L Y V Q E D N R R F V S Q E T G N p.180
. . . . . . g.207802
TTGTACATTGCCAAAGTGGAACCATCAGATGTGGGCAACTACACTTGCTTTATAACTAAC c.600
L Y I A K V E P S D V G N Y T C F I T N p.200
. . . . . | 07 g.209946
AAAGAGGCCCAGAGAAGTGTTCAAGGTCCACCCACTCCATTAGTGCAGCGCACTGATG | GT c.660
K E A Q R S V Q G P P T P L V Q R T D G | p.220
. . . . . . g.210006
GTGATGGGGGAATATGAACCAAAGATTGAAGTGCGTTTTCCTGAAACTATACAAGCTGCA c.720
V M G E Y E P K I E V R F P E T I Q A A p.240
. . . . | 08 . . g.233724
AAGGATTCATCTGTAAAACTGGAATGTTTTGCCCTTGGAAA | TCCAGTCCCCGATATTAGT c.780
K D S S V K L E C F A L G N | P V P D I S p.260
. . . . . . g.233784
TGGAGAAGGTTGGACGGGAGCCCGTTGCCAGGGAAAGTCAAGTACAGCAAATCCCAAGCT c.840
W R R L D G S P L P G K V K Y S K S Q A p.280
. . . . . . g.233844
ATCCTTGAAATCCCGAACTTCCAACAAGAAGATGAAGGCTTTTATGAGTGCATTGCAAGC c.900
I L E I P N F Q Q E D E G F Y E C I A S p.300
. . . . | 09 . . g.237884
AACCTTCGAGGAAGAAACCTTGCAAAGGGTCAACTCATTTTTTATG | CTCCTCCAGAATGG c.960
N L R G R N L A K G Q L I F Y A | P P E W p.320
. . . . . . g.237944
GAACAGAAAATCCAAAATACACACCTCTCTATCTATGACAACTTGCTCTGGGAATGTAAA c.1020
E Q K I Q N T H L S I Y D N L L W E C K p.340
. . . . . . g.238004
GCTAGTGGAAAGCCAAACCCTTGGTATACATGGTTAAAAAATGGTGAACGACTCAACCCA c.1080
A S G K P N P W Y T W L K N G E R L N P p.360
| 10 . . . . . . g.239569
GAG | GAGAGAATTCAAATAGAAAATGGGACACTCATCATAACGATGCTGAATGTGTCAGAT c.1140
E | E R I Q I E N G T L I I T M L N V S D p.380
. . . . . . g.239629
TCTGGTGTGTACCAATGTGCTGCAGAAAACAAATATCAGATAATTTATGCAAATGCTGAA c.1200
S G V Y Q C A A E N K Y Q I I Y A N A E p.400
. | 11 . . . . . g.241887
TTGAGAGTTTTAG | CCTCAGCTCCAGATTTCTCCAAAAGTCCAGTTAAAAAAAAGTCTTTT c.1260
L R V L A | S A P D F S K S P V K K K S F p.420
. . . . . . g.241947
GTTCAAGTTGGTGGGGATATTGTTATCGGATGCAAACCAAATGCTTTTCCCAGGGCAGCT c.1320
V Q V G G D I V I G C K P N A F P R A A p.440
. . . . | 12 . . g.264395
ATCTCTTGGAAAAGAGGAACGGAGACCCTTAGACAAAGCAAAAG | AATATTTCTCTTGGAG c.1380
I S W K R G T E T L R Q S K R | I F L L E p.460
. . . . . . g.264455
GATGGCAGCCTCAAGATATATAATATTACCAGGTCAGATGCTGGATCATATACATGCATA c.1440
D G S L K I Y N I T R S D A G S Y T C I p.480
. . . . . | 13 . g.284362
GCCACAAATCAGTTTGGCACTGCAAAGAACACTGGCAGCCTCATTGTAAAAG | AGAGAACT c.1500
A T N Q F G T A K N T G S L I V K E | R T p.500
. . . . . . g.284422
GTCATTACCGTCCCACCTTCCAAAATGGATGTTACAGTTGGCGAGAGTATAGTGCTACCA c.1560
V I T V P P S K M D V T V G E S I V L P p.520
. . . . . . g.284482
TGCCAGGTGTCCCATGACCCCTCCATTGAAGTGGTATTTGTATGGTTTTTCAATGGAGAT c.1620
C Q V S H D P S I E V V F V W F F N G D p.540
. . . . | 14 . g.284905
GTCATAGACTTAAAAAAAGGAGTGGCTCATTTTGAAAGGATTGGAGGA | GAATCTGTTGGG c.1680
V I D L K K G V A H F E R I G G | E S V G p.560
. . . . . . g.284965
GATTTGATGATAAGGAATATTCAGTTACATCATTCAGGAAAATATCTCTGCACAGTACAA c.1740
D L M I R N I Q L H H S G K Y L C T V Q p.580
. . . . | 15 . . g.285673
ACAACCCTAGAAAGTTTATCTGCAGTAGCCGATATCATTGTTAGAG | GTCCACCAGGTCCT c.1800
T T L E S L S A V A D I I V R G | P P G P p.600
. . . . . . g.285733
CCTGAGGATGTGCAAGTGGAAGACATTTCCAGTACTACTTCTCAACTAAGTTGGAGAGCA c.1860
P E D V Q V E D I S S T T S Q L S W R A p.620
. . . . . . g.285793
GGCCCAGATAATAACAGTCCCATTCAAATATTTACTATTCAGACTCGGACACCATTTTCT c.1920
G P D N N S P I Q I F T I Q T R T P F S p.640
. . | 16 . . . . g.286014
GTGGGTTGGCAGGCTGTTGCTACAG | TTCCAGAAATTCTCAATGGTAAGACATACAATGCA c.1980
V G W Q A V A T V | P E I L N G K T Y N A p.660
. . . . . . g.286074
ACAGTGGTTGGTTTGAGTCCTTGGGTGGAATATGAATTTCGTGTTGTTGCCGGCAACAGC c.2040
T V V G L S P W V E Y E F R V V A G N S p.680
. . . . . | 17 . g.289065
ATTGGGATTGGAGAACCAAGTGAACCATCAGAATTGTTAAGAACTAAAGCATCAG | TCCCT c.2100
I G I G E P S E P S E L L R T K A S V | P p.700
. . . . . . g.289125
GTTGTGGCACCAGTAAACATCCATGGAGGTGGAGGAAGTCGGTCTGAACTCGTCATTACG c.2160
V V A P V N I H G G G G S R S E L V I T p.720
| 18 . . . . . . g.295051
TGGGAG | TCAATTCCAGAAGAACTGCAGAATGGGGAGGGATTTGGATATATCATCATGTTC c.2220
W E | S I P E E L Q N G E G F G Y I I M F p.740
. . . . . . g.295111
CGGCCAGTGGGCTCGACAACCTGGTCCAAGGAGAAAGTGTCATCTGTGGAATCATCAAGG c.2280
R P V G S T T W S K E K V S S V E S S R p.760
. . . . . . g.295171
TTTGTCTACAGAAATGAAAGCATCATCCCACTGTCTCCCTTTGAAGTCAAAGTGGGTGTG c.2340
F V Y R N E S I I P L S P F E V K V G V p.780
. . . . . . g.295231
TATAATAATGAAGGAGAAGGATCCCTGAGTACTGTGACCATTGTCTACTCTGGGGAAGAT c.2400
Y N N E G E G S L S T V T I V Y S G E D p.800
| 19 . . . . . . g.295407
G | AACCTCAACTGGCCCCAAGGGGAACTTCTCTCCAGAGTTTTTCTGCTTCTGAAATGGAG c.2460
E | P Q L A P R G T S L Q S F S A S E M E p.820
. . . . . | 20. g.297669
GTTTCATGGAATGCTATTGCCTGGAATAGAAACACTGGAAGAGTGCTGGGCTATGAG | GTC c.2520
V S W N A I A W N R N T G R V L G Y E | V p.840
. . . . . . g.297729
TTATACTGGACAGATGACTCCAAAGAATCCATGATAGGTAAAATTAGAGTCAGTGGAAAT c.2580
L Y W T D D S K E S M I G K I R V S G N p.860
. . . . . . g.297789
GTCACAACCAAAAACATCACGGGGCTGAAAGCTAATACCATCTACTTTGCTTCCGTAAGA c.2640
V T T K N I T G L K A N T I Y F A S V R p.880
. . . . . . g.297849
GCTTACAACACTGCTGGGACAGGGCCCTCAAGCCCCCCAGTCAATGTTACCACCAAAAAG c.2700
A Y N T A G T G P S S P P V N V T T K K p.900
| 21 . . . . . . g.313544
TCTC | CTCCAAGCCAACCACCAGCAAACATTGCCTGGAAGCTGACAAACTCTAAATTATGC c.2760
S P | P S Q P P A N I A W K L T N S K L C p.920
. . . . . | 22. g.314376
TTGAACTGGGAGCATGTAAAAACCATGGAAAATGAGTCTGAAGTTTTGGGGTACAAG | ATT c.2820
L N W E H V K T M E N E S E V L G Y K | I p.940
. . . . . . g.314436
CTGTACCGGCAAAACAGACAGAGTAAAACTCATATTTTGGAAACAAACAATACATCAGCT c.2880
L Y R Q N R Q S K T H I L E T N N T S A p.960
. . . . . . g.314496
GAGCTTCTGGTTCCATTTGAAGAAGACTACTTAATTGAAATAAGAACAGTCAGTGATGGT c.2940
E L L V P F E E D Y L I E I R T V S D G p.980
. . . . | 23 . . g.315387
GGAGATGGAAGCAGCAGTGAGGAAATTAGGATTCCAAAAATGTCAA | GTTTGAGTTCCAGA c.3000
G D G S S S E E I R I P K M S S | L S S R p.1000
. . . . . . g.315447
GGAATTCAATTCTTAGAACCTAGCACCCATTTTCTTTCCATTGTCATTGTGATTTTTCAC c.3060
G I Q F L E P S T H F L S I V I V I F H p.1020
. . g.315474
TGTTTTGCTATTCAGCCACTTATCTGA c.3087
C F A I Q P L I X p.1028
. . . . . . g.315534
tgaataaaaccataaatctttgagagttttttgaaagcaaatcattctgtatatatgctc c.*60
. . . . . . g.315594
tccagcctctgacacaagatgcgttcttaatacagacttgtttgcaaagaaaaaaaaaag c.*120
. . . . . g.315650
tatattattaaaatcctgtaaatatctatggtatattaataaaacaattttaaaca c.*176
(downstream sequence)
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