(used for variant description)
(last modified May 29, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001141947.1 in the CCDC66 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.12, covering CCDC66 transcript NM_001141947.1.
(upstream sequence)
. . g.5027
aattggcgtagcgcttgctgagcggcg c.-61
. . . . . . g.5087
gcggcaaccgacgtacacaaggggcttgagcgttctgtggagagagtgcgaggtcaggcc c.-1
. | 02 . . . . . g.6739
ATGAACTTGGG | AGATGGTTTAAAGCTTGAAACTGAATTACTGGATGGAAAAACCAAGCTA c.60
M N L G | D G L K L E T E L L D G K T K L p.20
. | 03 . . . | 04 . . g.11546
ATATTGTCTCCATATG | AACATAAATCAAAAATTTCTGTGAAG | ATGGGAAATAAGGCCAAG c.120
I L S P Y E | H K S K I S V K | M G N K A K p.40
. . . . . . g.11606
ATTGCAAAATGTCCTTTAAGAACAAAAACTGGGCACATTCTAAAATCAACACAAGATACT c.180
I A K C P L R T K T G H I L K S T Q D T p.60
. . . . . . g.11666
TGTATTGGGAGTGAAAAACTTTTGCAAAAGAAGCCAGTTGGTTCAGAAACATCACAGGCA c.240
C I G S E K L L Q K K P V G S E T S Q A p.80
. . . . . . g.11726
AAAGGTGAAAAAAATGGAATGACTTTTTCATCCACTAAGGATTTATGTAAACAATGTATA c.300
K G E K N G M T F S S T K D L C K Q C I p.100
. . . . . . g.11786
GATAAAGACTGTCTTCATATCCAGAAAGAGATTTCACCTGCAACCCCTAATATGCAGAAG c.360
D K D C L H I Q K E I S P A T P N M Q K p.120
. . . . . . g.11846
ACTAGAAACACCGTAAATACATCTCTAGTAGGTAAACAGAAGCCTCACAAAAAACACATC c.420
T R N T V N T S L V G K Q K P H K K H I p.140
. . . . . . g.11906
ACAGCTGAAAACATGAAGAGCAGTTTGGTGTGTCTAACACAAGACCAACTACAACAGATT c.480
T A E N M K S S L V C L T Q D Q L Q Q I p.160
. . . . . . g.11966
TTGATGACTGTAAACCAAGGAAATAGATCTCTTTCCCTGACTGAGAATGGAAAGGAGGCA c.540
L M T V N Q G N R S L S L T E N G K E A p.180
| 05 . . . . . . g.14494
AAAA | GTCAATATAGTCTATATTTAAACAGTATTTCTAATCAGCCAAAGGATGAGAACATT c.600
K S | Q Y S L Y L N S I S N Q P K D E N I p.200
. . . . . . g.14554
ATGGGATTATTCAAAAAAACTGAAATGGTTTCATCTGTCCCAGCTGAAAATAAATCTGTC c.660
M G L F K K T E M V S S V P A E N K S V p.220
. . . . . | 06 . g.14804
TTAAATGAACATCAGGAGACATCTAAACAGTGTGAGCAAAAAATTGCCAT | AGAGAATGAA c.720
L N E H Q E T S K Q C E Q K I A I | E N E p.240
. . . . . . g.14864
TGGAAACCAGCTGATATATTCAGTACTCTGGGGGAAAGGGAATGTGATAGAAGTTCGTTG c.780
W K P A D I F S T L G E R E C D R S S L p.260
. . . | 07 . . . g.19051
GAAGCAAAAAAAGCCCAGTGGAGGAAAGAGCTAG | ATGAACAGGTTGCTTTAAAGAAGAAA c.840
E A K K A Q W R K E L D | E Q V A L K K K p.280
. . . . . . g.19111
GAAAAAGAAGTTTCTGAAAAATGGAATGATCCTTGGAAAAAATCTGAAAGTGATAAAATA c.900
E K E V S E K W N D P W K K S E S D K I p.300
. . . | 08 . . . g.40838
ATATGGGAAAAACATCAAATTCTTGACCAATCTAGG | GAAACAGTACTGCTGGAGCACCCT c.960
I W E K H Q I L D Q S R | E T V L L E H P p.320
. . . . . . g.40898
TTCAGTGCTGTGAAACAAGAACTGCAAAGAAAATGGATTGAAGAGTTGAATAAGCAAATA c.1020
F S A V K Q E L Q R K W I E E L N K Q I p.340
. . . . | 09 . g.41347
GAAGATGACCGTCAAAGAAAAATAGAGGAAAAAATTATATATTCAAAG | GGTGAGGAACAT c.1080
E D D R Q R K I E E K I I Y S K | G E E H p.360
. . . . . . g.41407
GACAGATGGGCAATGCACTTTGATTCATTAAAGAGTTATCCTGGTTCTCAATCTCAGCTG c.1140
D R W A M H F D S L K S Y P G S Q S Q L p.380
. . . . . . g.41467
TTCTCTCAGTCAACACACAAACAACCTGAGTACTTCTGTGTCTCTCCTGACACTCAGGAG c.1200
F S Q S T H K Q P E Y F C V S P D T Q E p.400
. . . . . . g.41527
CTGGCTGATGTCAGCAGTGTTTGTACACCTACAACCGGAAGCCAGGTTGAACCTTCAGAG c.1260
L A D V S S V C T P T T G S Q V E P S E p.420
. . . . . | 10 g.41789
GAGGAGCATATAGCAAAACCTATTAAGGATGTGGTTATGGCAAACAGTAAGAAAACAAA | C c.1320
E E H I A K P I K D V V M A N S K K T N | p.440
. . . . . . g.41849
TTTCTCCGTTCTATGACTGCTCTCTTGGACCCAGCTCAGATTGAGGAACGAGACAGACGA c.1380
F L R S M T A L L D P A Q I E E R D R R p.460
. . | 11 . . . . g.61469
CGACAAAAACAATTAGAGCATCAG | AAAGCCATCACTGCCCAGGTAGAAGAGAAGCGCAGG c.1440
R Q K Q L E H Q | K A I T A Q V E E K R R p.480
. . . . . . g.61529
AAGAAACAACTGGAGGAAGAGCAAAGAAAGAAGGAAGAACAAGAAGAGGAGCTTCGCTTA c.1500
K K Q L E E E Q R K K E E Q E E E L R L p.500
. . . . . . g.61589
GCACAGGAACGTGAAGAGATGCAGAAACAGTATGAAGAAGACATACTTAAGCAAAAACAA c.1560
A Q E R E E M Q K Q Y E E D I L K Q K Q p.520
| 12 . . . . . . g.63026
AAGGAA | GAAATCATGACTCTCAAGACAAATGAGCTATTCCAGACAATGCAGCGAGCACAG c.1620
K E | E I M T L K T N E L F Q T M Q R A Q p.540
. . . . . . g.63086
GAACTGGCACAGAGACTAAAACAAGAACAAAGAATCCGAGAATTGGCGCAAAAGGGACAT c.1680
E L A Q R L K Q E Q R I R E L A Q K G H p.560
. . . | 13 . . . g.63795
GACACTTCTAGACTGATTAAAAATCTTGGTG | TTGATACAATACAAATGGAATATAATGCA c.1740
D T S R L I K N L G V | D T I Q M E Y N A p.580
. . . . . . g.63855
TCTAACATTTCAAATTCAAGACATGATTCTGATGAAATCAGTGGTAAAATGAATACATAT c.1800
S N I S N S R H D S D E I S G K M N T Y p.600
. . . . | 14 . . g.64973
ATGAATTCTACGACTTCTAAGAAGGATACTGGTGTGCAAACAG | ATGACTTAAATATAGGA c.1860
M N S T T S K K D T G V Q T D | D L N I G p.620
. . . . . . g.65033
ATATTCACCAATGCAGAATCACATTGTGGATCATTAATGGAGAGGGACATCACAAATTGT c.1920
I F T N A E S H C G S L M E R D I T N C p.640
. . . . . . g.65093
TCATCTCCTGAGATTTCGGCAGAACTTATTGGACAGTTTAGCACCAAGAAAAACAAGCAA c.1980
S S P E I S A E L I G Q F S T K K N K Q p.660
. . . . . . g.65153
GAACTAACTCAGGATAAAGGAGCCAGCTTAGAAAAAGAAAACAATCGGTGTAATGACCAG c.2040
E L T Q D K G A S L E K E N N R C N D Q p.680
. . . . . . g.65213
TGTAATCAGTTCACAAGAATAGAGAAACAAACAAAACACATGAAGAAATATCCTAAAAGG c.2100
C N Q F T R I E K Q T K H M K K Y P K R p.700
. . . . . . g.65273
CCTGATTGGAATATAAATAAGCCACCTAAAAGGTATATTCCAGCATCAGAAAAGTACCCT c.2160
P D W N I N K P P K R Y I P A S E K Y P p.720
. . . . . . g.65333
AAACAGCTTCAAAAGCAGAGAGAAGAAAAAAAAGTAAGGAGGCAGATGGAATTGCTTCAT c.2220
K Q L Q K Q R E E K K V R R Q M E L L H p.740
. . . . . . g.65393
TTGGTAGAAAAAAATAATCCTGGGCACCTCTCTCAAAACAGAGGCATTTCACCAGAAATT c.2280
L V E K N N P G H L S Q N R G I S P E I p.760
. . . . . | 15. g.66019
TTTCATTCATCTCATCAAGAAACGGAGTCAAAGTTGAGGTGGCATCTAGTCAAAAAG | GAA c.2340
F H S S H Q E T E S K L R W H L V K K | E p.780
. . . | 16 . . g.67137
GAAGAGCCTCTGAATATTCATTCATTCAGCAAGGAAAG | GTCTCCATCATCACCAGTTCCA c.2400
E E P L N I H S F S K E R | S P S S P V P p.800
. . . . . . g.67197
GTAGTGAAAAACAGAACCCAACAAACTCAAAATACATTACATTTACCACTAAAAAACAGT c.2460
V V K N R T Q Q T Q N T L H L P L K N S p.820
. . . . . . g.67257
AGCTATGAGAGAGAGAATTTGATCTCAGGAAGTAATCAAACAGAATTATCATCTGGGATT c.2520
S Y E R E N L I S G S N Q T E L S S G I p.840
. . . . . . g.67317
TCTGAATCATCCCATTTTATTCCGTATGTTCGAACAAATGAGATCTATTACCTTGATCCC c.2580
S E S S H F I P Y V R T N E I Y Y L D P p.860
. . . . . | 17 . g.67626
GATGCACCATTGTCTGGGCCTTCAACCCAGGACCCTCAGTACCAAAATTCACAAG | ACTGT c.2640
D A P L S G P S T Q D P Q Y Q N S Q D | C p.880
. . . . . . g.67686
GGCCAAAAACGACAGCTATTTGATTCTGACTGTGTCAGGGATCCACTTCTTAATCCTAAC c.2700
G Q K R Q L F D S D C V R D P L L N P N p.900
. . . . . . g.67746
ATGGTGAAAAATAGGGATCGACAGCAAGCAATCCTTAAGGGACTTTCAGAACTGAGACAG c.2760
M V K N R D R Q Q A I L K G L S E L R Q p.920
| 18 . . . . . . g.69436
| GGCCTTCTCCAGAAGCAAAAGGAGTTGGAAAGTAGTCTCCTGCCTTTAGCTGAAAATCAA c.2820
| G L L Q K Q K E L E S S L L P L A E N Q p.940
. . g.69463
GAAGAGAGTTTTGGTTCTTCATTTTAA c.2847
E E S F G S S F X p.948
. . . . . . g.69523
atgtagaaaatcaaatccttcacatttgatttgtgtcttccaaattataaaatgtgctca c.*60
. . . . . . g.69583
ctggctcaactgtatttttcaaatagcctagatttacttatttttttaaatgctcattaa c.*120
. . . . . . g.69643
aaacttgtatactatgtagtaaaatgctgtacttgttctatacaataaaacagatacttc c.*180
. . . g.69681
ttttgtaaaagcttagtagtaaaaaaaaaaaaaaaaaa c.*218
(downstream sequence)
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