(used for variant description)
(last modified September 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014008.3 in the CCDC22 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021311.1, covering CCDC22 transcript NM_014008.3.
(upstream sequence)
. . . . . g.5050
ctcacatccggcatgcgccgtgctcgctcacagaactacactttccaact c.-121
. . . . . . g.5110
ctccccacacgacccgtgacactctgtggaccgcgagcacggagcagggtttctacagct c.-61
. . . . . . g.5170
gctccccactttctcggacccggtcctggacccagcccccgactccgacacggctccacc c.-1
. . . . . | 02 . g.6636
ATGGAGGAGGCGGACCGAATCCTCATCCATTCGCTGCGCCAGGCCGGCAC | GGCAGTTCCT c.60
M E E A D R I L I H S L R Q A G T | A V P p.20
. . . . . . g.6696
CCAGATGTGCAGACCTTGCGCGCCTTCACCACTGAGCTGGTTGTAGAGGCTGTGGTCCGC c.120
P D V Q T L R A F T T E L V V E A V V R p.40
. . . . . . g.6756
TGCCTGCGTGTGATCAACCCTGCGGTGGGCTCTGGCCTCAGCCCTCTGCTGCCTCTTGCC c.180
C L R V I N P A V G S G L S P L L P L A p.60
. . . . | 03 . g.11567
ATGTCTGCCCGGTTCCGCCTGGCCATGAGCCTGGCTCAGGCCTGCATG | GACCTGGGCTAT c.240
M S A R F R L A M S L A Q A C M | D L G Y p.80
. . . . . . g.11627
CCCTTGGAGCTTGGCTATCAGAACTTCCTCTACCCCAGTGAGCCTGACCTCCGAGACCTG c.300
P L E L G Y Q N F L Y P S E P D L R D L p.100
. . . . . . g.11687
CTTCTCTTCTTGGCTGAGCGTCTGCCCACCGATGCCTCTGAGGATGCAGACCAGCCTGCA c.360
L L F L A E R L P T D A S E D A D Q P A p.120
| 04 . . . . . . g.12484
G | GTGACTCAGCTATTCTCCTCCGGGCCATTGGGAGCCAAATTCGGGACCAGCTGGCACTG c.420
G | D S A I L L R A I G S Q I R D Q L A L p.140
. . . . | 05 . g.12669
CCTTGGGTCCCGCCCCACCTTCGCACTCCCAAGCTGCAGCACCTCCAG | GGCTCGGCCCTC c.480
P W V P P H L R T P K L Q H L Q | G S A L p.160
. . . . . | 06 . g.12828
CAGAAGCCTTTCCATGCCAGCAGGCTGGTCGTGCCAGAATTGAGTTCCAGAGGTG | AGCCA c.540
Q K P F H A S R L V V P E L S S R G E | P p.180
. . . . . . g.12888
CGGGAGTTCCAGGCGAGTCCCCTGCTGCTTCCAGTCCCTACCCAGGTGCCTCAGCCTGTT c.600
R E F Q A S P L L L P V P T Q V P Q P V p.200
. . . . . . g.12948
GGAAGGGTGGCCTCGCTCCTCGAACACCATGCCCTGCAGCTCTGCCAGCAGACGGGCCGG c.660
G R V A S L L E H H A L Q L C Q Q T G R p.220
. . . . . | 07 . g.16271
GACCGGCCAGGGGATGAGGACTGGGTCCACCGGACATCCCGCCTCCCACCCCAG | GAGGAC c.720
D R P G D E D W V H R T S R L P P Q | E D p.240
. . . . . . g.16331
ACACGGGCTCAGCGGCAGCGGCTGCAGAAGCAACTGACTGAGCATCTGCGCCAAAGCTGG c.780
T R A Q R Q R L Q K Q L T E H L R Q S W p.260
. . . . . . g.16391
GGCCTGCTTGGGGCCCCCATACAAGCCCGGGACCTGGGAGAACTGCTGCAGGCCTGGGGT c.840
G L L G A P I Q A R D L G E L L Q A W G p.280
. . . . . . g.16451
GCTGGGGCCAAGACTGGTGCTCCTAAGGGCTCCCGCTTCACGCACTCAGAGAAGTTCACC c.900
A G A K T G A P K G S R F T H S E K F T p.300
| 08 . . . . . g.17081
TTCCATCTG | GAGCCCCAGGCCCAGGCCACTCAGGTGTCAGATGTGCCAGCCACCTCCCGG c.960
F H L | E P Q A Q A T Q V S D V P A T S R p.320
. | 09 . . . . . g.17231
CGGCCTGAACAG | GTCACGTGGGCAGCTCAGGAACAGGAGCTCGAGTCCCTTCGGGAGCAG c.1020
R P E Q | V T W A A Q E Q E L E S L R E Q p.340
. . . . . . g.17291
CTGGAAGGAGTGAACCGCAGCATTGAGGAGGTTGAGGCCGACATGAAGACCCTGGGCGTC c.1080
L E G V N R S I E E V E A D M K T L G V p.360
. | 10 . . . . . g.17773
AGCTTTGTGCAG | GCAGAGTCTGAGTGCCGGCACAGCAAGCTCAGTACAGCAGAGCGTGAG c.1140
S F V Q | A E S E C R H S K L S T A E R E p.380
. . . . . . g.17833
CAGGCCCTGCGCCTGAAGAGCCGCGCGGTGGAGCTGCTGCCCGATGGGACTGCCAACCTT c.1200
Q A L R L K S R A V E L L P D G T A N L p.400
. | 11 . . . . . g.17989
GCCAAGCTGCAG | CTTGTGGTGGAGAATAGTGCCCAGCGGGTCATCCACTTGGCGGGTCAG c.1260
A K L Q | L V V E N S A Q R V I H L A G Q p.420
. . . . . . g.18049
TGGGAGAAGCACCGGGTCCCACTCCTCGCTGAGTACCGCCACCTCCGAAAGCTGCAGGAT c.1320
W E K H R V P L L A E Y R H L R K L Q D p.440
| 12 . . . . . g.18218
TGCAGAGAG | CTGGAATCTTCTCGACGGCTGGCAGAGATCCAAGAACTGCACCAGAGTGTC c.1380
C R E | L E S S R R L A E I Q E L H Q S V p.460
. . . . . | 13 . g.18360
CGGGCGGCTGCTGAAGAGGCCCGCAGGAAGGAGGAGGTCTATAAGCAGCTG | ATGTCAGAG c.1440
R A A A E E A R R K E E V Y K Q L | M S E p.480
. . . . . . g.18420
CTGGAGACTCTGCCCAGAGATGTGTCCCGGCTGGCCTACACCCAGCGCATCCTGGAGATC c.1500
L E T L P R D V S R L A Y T Q R I L E I p.500
. . . | 14 . . g.18722
GTGGGCAACATCCGGAAGCAGAAGGAAGAGATCACCAAG | ATCTTGTCTGATACGAAGGAG c.1560
V G N I R K Q K E E I T K | I L S D T K E p.520
. . . . . . g.18782
CTTCAGAAGGAAATCAACTCCCTATCTGGGAAGCTGGACCGGACGTTTGCGGTGACTGAT c.1620
L Q K E I N S L S G K L D R T F A V T D p.540
. | 15 . . . . . g.19088
GAGCTTGTGTTCAAG | GATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTA c.1680
E L V F K | D A K K D D A V R K A Y K Y L p.560
. | 16 . . . . . g.19230
GCTGCTCTGCACGAG | AACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATC c.1740
A A L H E | N C S Q L I Q T I E D T G T I p.580
. . . | 17 . . . g.19712
ATGCGGGAGGTTCGAGACCTCGAGGAGCAG | ATCGAGACAGAGCTGGGCAAGAAGACCCTC c.1800
M R E V R D L E E Q | I E T E L G K K T L p.600
. . . . . . g.19772
AGCAACCTGGAGAAGATCCGGGAGGACTACCGAGCCCTCCGCCAGGAGAACGCTGGCCTC c.1860
S N L E K I R E D Y R A L R Q E N A G L p.620
. . g.19796
CTAGGCCGGGTCCGGGAGGCCTGA c.1884
L G R V R E A X p.627
. . . . . . g.19856
ggagccgccggcagaggtctctccccagcctcaggcagggatttggggtgctggaggcag c.*60
. . . . . . g.19916
tggccaagcacatgccctagctacttcctccgctgtccagttcctcctgctgcggccttg c.*120
. . . . . . g.19976
gacccagacccctgcccactgaccgcaacccttatatggggtgatagtccagcatgtggg c.*180
. . . . . . g.20036
gagctcggctgcagtttattggggacggtactgtgggttgggggccttggatcccaaata c.*240
. . g.20061
aatgagtagttcctctgcagtctaa c.*265
(downstream sequence)
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