(used for variant description)
(last modified February 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001298.2 in the CNGA3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009097.1, covering CNGA3 transcript NM_001298.2.
(upstream sequence)
. . . . . g.5057
gcttactcatccagtgtggattacactaccagcaaaacatcccaggaaggagtccag c.-361
. . . . . . g.5117
ggtggccgcccacagttaggagagaacccagaacggaacgacggacttgtttgctttctt c.-301
. . . . . . g.5177
gcccctgactctccccgtcctccctgggagggttggggatgtgaactaatgacttctgcc c.-241
. . . . . . g.5237
tctttcggaccgcctttgaggctccagagcctcaccttactttcccacggagagggaggc c.-181
. . . . . . g.5297
cacaggctccttcagcagtcgccgagcagagtcctgggccgggagcgcgggggagggagc c.-121
. . . . . . g.5357
gagcggaactgcgcctaggaggccgagggaggaggcgctccgcagaccctggcgcgccgc c.-61
. . . | 02 . . . g.28821
ggagaagctcaaactttggcagg | caatcatctggggggctaaatgtgacaaaccgagaag c.-1
. . . . . . g.28881
ATGGCCAAGATCAACACCCAATACTCCCACCCCTCCAGGACCCACCTCAAGGTAAAGACC c.60
M A K I N T Q Y S H P S R T H L K V K T p.20
. . . . | 03 . . g.36551
TCAGACCGAGATCTCAATCGCGCTGAAAATGGCCTCAGCAG | AGCCCACTCGTCAAGTGAG c.120
S D R D L N R A E N G L S R | A H S S S E p.40
. . . . . . g.36611
GAGACATCGTCAGTGCTGCAGCCGGGGATCGCCATGGAGACCAGAGGACTGGCTGACTCC c.180
E T S S V L Q P G I A M E T R G L A D S p.60
. . . | 04 . . . g.39045
GGGCAGGGCTCCTTCACCGGCCAGGGGATCGCCAG | GCTGTCGCGCCTCATCTTCTTGCTG c.240
G Q G S F T G Q G I A R | L S R L I F L L p.80
. . . . . . g.39105
CGCAGGTGGGCTGCCAGGCATGTGCACCACCAGGACCAGGGACCGGACTCTTTTCCTGAT c.300
R R W A A R H V H H Q D Q G P D S F P D p.100
. . . . . . g.39165
CGTTTCCGTGGAGCCGAGCTTAAGGAGGTGTCCAGCCAAGAAAGCAATGCCCAGGCAAAT c.360
R F R G A E L K E V S S Q E S N A Q A N p.120
. . . | 05 . . . g.42258
GTGGGCAGCCAGGAGCCAGCAGACAGAGGGAGAAG | CGCCTGGCCCCTGGCCAAATGCAAC c.420
V G S Q E P A D R G R S | A W P L A K C N p.140
. . | 06 . . . g.48534
ACTAACACCAGCAACAACACGGAGGAGGA | GAAGAAGACGAAAAAGAAGGATGCGATCGTG c.480
T N T S N N T E E E | K K T K K K D A I V p.160
. . . . . . g.48594
GTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTC c.540
V D P S S N L Y Y R W L T A I A L P V F p.180
. . | 07 . . . . g.50743
TATAACTGGTATCTGCTTATTTGCAG | GGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTG c.600
Y N W Y L L I C R | A C F D E L Q S E Y L p.200
. . . . . . g.50803
ATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTA c.660
M L W L V L D Y S A D V L Y V L D V L V p.220
. | 08 . . . . . g.54736
CGAGCTCGGACAG | GTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGG c.720
R A R T G | F L E Q G L M V S D T N R L W p.240
. . . . . . g.54796
CAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGAC c.780
Q H Y K T T T Q F K L D V L S L V P T D p.260
. . . . . . g.54856
CTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAG c.840
L A Y L K V G T N Y P E V R F N R L L K p.280
. . . . . . g.54916
TTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATG c.900
F S R L F E F F D R T E T R T N Y P N M p.300
. . . . . . g.54976
TTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATC c.960
F R I G N L V L Y I L I I I H W N A C I p.320
. . . . . . g.55036
TACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATC c.1020
Y F A I S K F I G F G T D S W V Y P N I p.340
. . . . . . g.55096
TCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACC c.1080
S I P E H G R L S R K Y I Y S L Y W S T p.360
. . . . . . g.55156
TTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTT c.1140
L T L T T I G E T P P P V K D E E Y L F p.380
. . . . . . g.55216
GTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGC c.1200
V V V D F L V G V L I F A T I V G N V G p.400
. . . . . . g.55276
TCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATC c.1260
S M I S N M N A S R A E F Q A K I D S I p.420
. . . . . . g.55336
AAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGG c.1320
K Q Y M Q F R K V T K D L E T R V I R W p.440
. . . . . . g.55396
TTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTC c.1380
F D Y L W A N K K T V D E K E V L K S L p.460
. . . . . . g.55456
CCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTT c.1440
P D K L K A E I A I N V H L D T L K K V p.480
. . . . . . g.55516
CGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCC c.1500
R I F Q D C E A G L L V E L V L K L R P p.500
. . . . . . g.55576
ACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTAC c.1560
T V F S P G D Y I C K K G D I G K E M Y p.520
. . . . . . g.55636
ATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTC c.1620
I I N E G K L A V V A D D G V T Q F V V p.540
. . . . . . g.55696
CTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCG c.1680
L S D G S Y F G E I S I L N I K G S K S p.560
. . . . . . g.55756
GGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCA c.1740
G N R R T A N I R S I G Y S D L F C L S p.580
. . . . . . g.55816
AAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAG c.1800
K D D L M E A L T E Y P E A K K A L E E p.600
. . . . . . g.55876
AAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGC c.1860
K G R Q I L M K D N L I D E E L A R A G p.620
. . . . . . g.55936
GCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTG c.1920
A D P K D L E E K V E Q L G S S L D T L p.640
. . . . . . g.55996
CAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAG c.1980
Q T R F A R L L A E Y N A T Q M K M K Q p.660
. . . . . . g.56056
CGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGG c.2040
R L S Q L E S Q V K G G G D K P L A D G p.680
. . . . g.56101
GAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGA c.2085
E V P G D A T K T E D K Q Q X p.694
. . . . . . g.56161
aaatgcagcatctgtctcctgcttcacagggtcgactgtcagggtgaccgtatgtggccg c.*60
. . . . . . g.56221
cagctgtgtggcatggaacttggtcagggttgaattccagctctactcaccctttgaaag c.*120
. . . . . . g.56281
ctgtgtgactgcctgagagaacctgtttcttcacctaaaaaatgggactttttgtctcag c.*180
. . . . . . g.56341
tcccagtgaagtgccaggtttgattgtgaagtccgcatgaaacactgcaccaggcagggc c.*240
. . . . . . g.56401
tttgcaaagtgcaaggtatccccagtccaagtatatgaaaacgtgcacacaggactctca c.*300
. . . . . . g.56461
ttacttttttatggaatctgcaaggtgtttttaggctttttaatctgattttcttataaa c.*360
. . . . . . g.56521
tgaaagattatttagtcacctttctcctgtccaacttcaccaccacctgataatgggtat c.*420
. . . . . . g.56581
ataacaggaagctgaaggtacaacatagtgactaaaattcagacttacacaagacagttt c.*480
. . . . . . g.56641
gaggcatatttcttaatctggtatcacctcgtgtgttctttggggccctagaaaccctgg c.*540
. . . . . . g.56701
cttttgggagtgctatggcaagtagaagttctgccggatggaaagaggctgccccatttg c.*600
. . . . . . g.56761
aggtcatttaaaatctgtgaagcaaatccagactccttgccgttcagccactgtgaaacc c.*660
. . . . . . g.56821
agaatctgcttcacagaaaaaagcatctcagttaggagaagagacatcccctccttctca c.*720
. . . . . . g.56881
cttgccaaagagattcaaagacagcccctatcctccattcttgagtcagggccctaggtg c.*780
. . . . . . g.56941
acctattctaactcaaggaggagagctatgtacagggagagcattttagattgaaggttg c.*840
. . . . . . g.57001
gaatggtgtactaaaccaaaaaagctgacaactgagagttttagaagattagaccattag c.*900
. . . . . . g.57061
gaacgtatctttgcaaactgcccattcacccatgaagaggaagcctcaagatcccttgga c.*960
. . . . . . g.57121
attgcatcccaaggcaaagcttttggctcaccgaaagctcacagattgcagaaattagct c.*1020
. . . . . . g.57181
tttttaaaaaacaaaccccagtaaatataatttcattaacattttataacagatttatat c.*1080
. . . . . . g.57241
ttttgagttccgtgattgcaaattatgacctcaaattccatccttcacttatgtaacatg c.*1140
. . . . . . g.57301
ttgcaaattacccaaagatgagtctttcttctttctttcctttttcctttcttcttcctt c.*1200
. . . . . . g.57361
tccttttttctttcttcttccttctttcttcctttttctctctcctcttttcctcctcaa c.*1260
. . . . . . g.57421
aatgtatatattttaaaagccttaactgttagttatgcctgcattcatatttgcacagga c.*1320
. . g.57447
aaaataaagacctggatttaaaaata c.*1346
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center