(used for variant description)
(last modified April 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014956.4 in the CEP164 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033032.1, covering CEP164 transcript NM_014956.4.
(upstream sequence)
. . g.11104
ttgcgcgctgcagggcaacaccccggc c.-121
. . . | 02 . . . g.18864
gtccctggaagctgggggagcgg | gagaaataactttatttggactgagagctggagaatg c.-61
. . . . | 03 . g.21809
agaataggacctgagagtatattgggctaaggaggagag | gtgtttgagcccagatgagtc c.-1
. . . . . . g.21869
ATGGCTGGACGACCCCTCCGCATAGGAGATCAGCTGGTTCTGGAAGAAGATTATGATGAG c.60
M A G R P L R I G D Q L V L E E D Y D E p.20
. . | 04 . . . . g.27426
ACCTACATTCCTAGTGAGCAAG | AAATTCTTGAATTTGCCCGGGAGATTGGTATTGATCCC c.120
T Y I P S E Q E | I L E F A R E I G I D P p.40
. . . . . . g.27486
ATCAAGGAACCAGAACTGATGTGGCTGGCGCGAGAGGGCATCGTGGCCCCACTGCCTGGA c.180
I K E P E L M W L A R E G I V A P L P G p.60
. | 05 . . . . . g.35058
GAGTGGAAACCATG | CCAGGACATCACAGGTGACATTTACTATTTCAACTTCGCCAACGGG c.240
E W K P C | Q D I T G D I Y Y F N F A N G p.80
. . . . . . g.35118
CAGTCTATGTGGGACCATCCATGTGACGAACACTATCGGAGCTTGGTGATCCAAGAGCGG c.300
Q S M W D H P C D E H Y R S L V I Q E R p.100
. . . . . . g.35178
GCAAAGCTGTCAACTTCTGGGGCCATTAAGAAGAAGAAAAAAAAAAAGGAAAAGAAAGAC c.360
A K L S T S G A I K K K K K K K E K K D p.120
. . . | 06 . . . g.45084
AAGAAGGACAGAGACCCCCCCAAAAGTTCGCTG | GCCTTGGGTTCCTCATTAGCCCCAGTT c.420
K K D R D P P K S S L | A L G S S L A P V p.140
. . . . . . g.45144
CATGTTCCTCTTGGGGGCCTGGCTCCTTTACGAGGTCTTGTGGATACCCCACCCTCTGCT c.480
H V P L G G L A P L R G L V D T P P S A p.160
. . . . . . g.45204
CTTCGTGGATCTCAAAGCGTGAGCCTGGGGAGCTCAGTGGAGTCTGGACGTCAGCTTGGA c.540
L R G S Q S V S L G S S V E S G R Q L G p.180
. | 07 . . . . . g.45674
GAACTCATGCTG | CCTTCACAGGGTCTCAAGACCTCTGCTTATACAAAGGGTCTCTTGGGC c.600
E L M L | P S Q G L K T S A Y T K G L L G p.200
. . . . . . g.45734
TCCATATATGAGGACAAGACTGCTCTCAGCCTCTTGGGTTTAGGAGAAGAAACCAATGAG c.660
S I Y E D K T A L S L L G L G E E T N E p.220
. . | 08. . . . g.46684
GAGGATGAGGAGGAAAGTGACAACCAG | AGTGTCCACAGCTCAAGTGAGCCTCTTAGGAAC c.720
E D E E E S D N Q | S V H S S S E P L R N p.240
. . . . | 09 . . g.54317
CTACACCTGGACATTGGGGCACTGGGGGGTGACTTTGAGTATGAG | GAGTCTCTGAGAACA c.780
L H L D I G A L G G D F E Y E | E S L R T p.260
. . . . . . g.54377
AGCCAGCCAGAGGAGAAGAAGGATGTTTCTCTGGATTCAGATGCTGCCGGTCCCCCTACT c.840
S Q P E E K K D V S L D S D A A G P P T p.280
. . . . . . g.54437
CCCTGCAAGCCCTCCAGCCCAGGTGCAGACAGCAGTCTGAGCAGTGCTGTTGGCAAAGGG c.900
P C K P S S P G A D S S L S S A V G K G p.300
. . . . . . g.54497
CGACAGGGAAGTGGAGCAAGACCTGGTCTTCCAGAAAAAGAGGAAAATGAGAAGAGTGAA c.960
R Q G S G A R P G L P E K E E N E K S E p.320
. . . . . . g.54557
CCTAAGATTTGCAGGAATCTGGTGACCCCCAAGGCAGACCCTACAGGCAGTGAGCCTGCC c.1020
P K I C R N L V T P K A D P T G S E P A p.340
. . . . . . g.54617
AAAGCCTCTGAAAAGGAAGCACCAGAGGACACAGTAGATGCAGGAGAGGAGGGTTCCAGG c.1080
K A S E K E A P E D T V D A G E E G S R p.360
. . . . . . g.54677
AGGGAAGAGGCAGCCAAGGAGCCAAAGAAGAAGGCTTCTGCTCTGGAAGAGGGCAGTTCA c.1140
R E E A A K E P K K K A S A L E E G S S p.380
. | 10 . . . . . g.57021
GACGCCAGCCAA | GAACTGGAAATTAGTGAACACATGAAGGAACCACAGCTCTCAGACTCC c.1200
D A S Q | E L E I S E H M K E P Q L S D S p.400
. . . | 11 . . . g.58957
ATAGCTTCTGACCCCAAGTCCTTCCATGGCCTG | GACTTCGGTTTTCGCAGCCGGATCTCG c.1260
I A S D P K S F H G L | D F G F R S R I S p.420
. . . . . | 12. g.63839
GAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAG | GCC c.1320
E H L L D V D V L S P V L G G A C R Q | A p.440
. . . . . . g.63899
CAGCAACCACTGGGAATAGAAGACAAGGATGACAGCCAGTCCAGCCAAGATGAGCTGCAG c.1380
Q Q P L G I E D K D D S Q S S Q D E L Q p.460
. . | 13 . . . g.64954
AGCAAGCAGTCCAAAGGCCTGGAGGAGAG | GTTATCTCCTCCACTTCCACACGAGGAGCGG c.1440
S K Q S K G L E E R | L S P P L P H E E R p.480
. . . . . . g.65014
GCCCAGAGTCCCCCTCGCAGCCTGGCCACTGAAGAAGAGCCTCCCCAGGGCCCCGAGGGG c.1500
A Q S P P R S L A T E E E P P Q G P E G p.500
. . . . . . g.65074
CAGCCCGAGTGGAAGGAGGCAGAGGAGCTTGGGGAGGACTCTGCAGCCAGCCTCAGCCTG c.1560
Q P E W K E A E E L G E D S A A S L S L p.520
. | 14. . . . . g.66061
CAGCTGTCCCTCCAGAG | GGAGCAGGCCCCAAGCCCACCTGCTGCCTGTGAGAAGGGCAAG c.1620
Q L S L Q R | E Q A P S P P A A C E K G K p.540
. . . . . . g.66121
GAGCAGCATTCCCAGGCCGAGGAGCTGGGCCCTGGGCAGGAAGAGGCAGAGGATCCTGAG c.1680
E Q H S Q A E E L G P G Q E E A E D P E p.560
. . . . | 15 . . g.70441
GAGAAGGTGGCGGTCAGCCCCACCCCGCCAGTCTCTCCAGAGGT | GCGATCCACAGAGCCT c.1740
E K V A V S P T P P V S P E V | R S T E P p.580
. . . . . . g.70501
GTGGCTCCCCCAGAGCAGCTCTCAGAGGCTGCACTAAAGGCCATGGAAGAGGCAGTGGCC c.1800
V A P P E Q L S E A A L K A M E E A V A p.600
. . . . . . g.70561
CAAGTACTCGAGCAAGACCAGAGGCACCTGCTGGAATCCAAGCAAGAGAAGATGCAGCAA c.1860
Q V L E Q D Q R H L L E S K Q E K M Q Q p.620
. . . . . . g.70621
CTGCGGGAGAAGCTGTGCCAAGAGGAGGAAGAGGAGATCCTCCGGCTTCACCAGCAGAAA c.1920
L R E K L C Q E E E E E I L R L H Q Q K p.640
. | 16 . . . . . g.74045
GAGCAATCTCTCAG | TTCCTTGAGGGAGCGGCTGCAGAAAGCCATTGAGGAGGAGGAGGCC c.1980
E Q S L S | S L R E R L Q K A I E E E E A p.660
. . . . . . g.74105
CGGATGAGAGAGGAGGAAAGCCAGAGGCTATCCTGGCTCCGAGCTCAGGTCCAGTCCAGC c.2040
R M R E E E S Q R L S W L R A Q V Q S S p.680
. . | 17 . . . . g.74255
ACACAAGCAGATGAGGACCAAATCAG | GGCTGAGCAAGAGGCTTCCCTGCAGAAACTGAGA c.2100
T Q A D E D Q I R | A E Q E A S L Q K L R p.700
. . . . . . g.74315
GAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGCTTGGAACAGAAAAATAGGCAA c.2160
E E L E S Q Q K A E R A S L E Q K N R Q p.720
. . . . . . g.74375
ATGCTGGAGCAGCTCAAGGAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTG c.2220
M L E Q L K E E I E A S E K S E Q A A L p.740
. . . . . . g.74435
AATGCTGCAAAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAAGGGGAGAGGAAA c.2280
N A A K E K A L Q Q L R E Q L E G E R K p.760
| 18 . . . . . . g.75505
GAA | GCTGTGGCAACGCTGGAGAAGGAGCACAGTGCTGAGCTGGAGCGGCTCTGCTCCTCA c.2340
E | A V A T L E K E H S A E L E R L C S S p.780
. . | 19 . . . . g.75757
TTGGAGGCCAAGCACCGGGAG | GTGGTCTCCAGCCTCCAGAAGAAGATACAGGAAGCTCAA c.2400
L E A K H R E | V V S S L Q K K I Q E A Q p.800
. . . . . . g.75817
CAGAAAGAGGAGGCCCAGCTGCAGAAGTGCCTTGGGCAAGTGGAGCACAGAGTTCACCAG c.2460
Q K E E A Q L Q K C L G Q V E H R V H Q p.820
. . . | 20 . . . g.76253
AAGTCTTATCACGTGGCTGGGTATGAGCACGAG | CTCAGCAGTCTCCTGCGAGAGAAGCGC c.2520
K S Y H V A G Y E H E | L S S L L R E K R p.840
. . . . . . g.76313
CAGGAAGTGGAAGGGGAGCATGAGAGGAGGTTGGACAAGATGAAGGAGGAGCACCAGCAA c.2580
Q E V E G E H E R R L D K M K E E H Q Q p.860
. . . | 21 . . . g.77596
GTGATGGCTAAGGCCAGAGAGCAGTATGAAGCTGAG | GAGAGGAAGCAGCGGGCTGAGCTT c.2640
V M A K A R E Q Y E A E | E R K Q R A E L p.880
. . . . . . g.77656
CTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAG c.2700
L G H L T G E L E R L Q R A H E R E L E p.900
. . . . . . g.77716
ACTGTGAGGCAGGAGCAACACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAG c.2760
T V R Q E Q H K R L E D L R R R H R E Q p.920
| 22 . . . . . . g.78202
| GAAAGGAAGCTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAAGATGTCAAGGCC c.2820
| E R K L Q D L E L D L E T R A K D V K A p.940
. . | 23 . . . . g.78381
AGATTGGCTCTGCTGGAGGTCCAG | GAGGAGACCGCCCGGAGGGAGAAGCAGCAGCTGCTT c.2880
R L A L L E V Q | E E T A R R E K Q Q L L p.960
. . . | 24 . . . g.78796
GATGTGCAGAGGCAGGTTGCTCTGAAGAGTGAG | GAAGCCACAGCCACCCATCAGCAGCTG c.2940
D V Q R Q V A L K S E | E A T A T H Q Q L p.980
. . . . . . g.78856
GAGGAGGCACAGAAGGAGCACACCCACCTGTTGCAGTCAAACCAGCAGCTCCGAGAAATT c.3000
E E A Q K E H T H L L Q S N Q Q L R E I p.1000
. . . . . . g.78916
CTTGATGAGCTGCAGGCCCGCAAGCTGAAGCTGGAGTCCCAAGTGGATCTGCTGCAGGCT c.3060
L D E L Q A R K L K L E S Q V D L L Q A p.1020
. . | 25 . . . g.79307
CAGAGCCAGCAACTGCAGAAACACTTCAG | CAGCCTGGAGGCTGAAGCTCAAAAGAAGCAG c.3120
Q S Q Q L Q K H F S | S L E A E A Q K K Q p.1040
. . . . . . g.79367
CACCTGTTGAGAGAAGTGACAGTTGAGGAAAATAATGCTTCCCCACATTTTGAGCCAGAT c.3180
H L L R E V T V E E N N A S P H F E P D p.1060
. . . | 26 . . . g.79796
CTCCATATTGAGGACCTGAGGAAATCCCTTGGAACA | AACCAGACCAAAGAGGTGTCTTCT c.3240
L H I E D L R K S L G T | N Q T K E V S S p.1080
. . . | 27 . . g.80335
TCTCTCTCCCAGAGCAAGGAGGACTTATACTTGGACAG | CCTGTCCTCCCACAATGTCTGG c.3300
S L S Q S K E D L Y L D S | L S S H N V W p.1100
. . . . . . g.80395
CACCTCCTCTCTGCTGAGGGGGTAGCCCTCCGTAGTGCCAAGGAGTTCCTTGTGCAGCAG c.3360
H L L S A E G V A L R S A K E F L V Q Q p.1120
. . . . . . g.80455
ACACGCTCCATGCGGAGGCGGCAGACAGCTCTGAAAGCTGCCCAGCAGCATTGGCGCCAT c.3420
T R S M R R R Q T A L K A A Q Q H W R H p.1140
. . . . . . g.80515
GAGCTGGCCAGTGCGCAGGAGGTGGCCAAAGACCCACCAGGCATCAAGGCCCTGGAAGAT c.3480
E L A S A Q E V A K D P P G I K A L E D p.1160
. . | 28 . . . . g.91186
ATGCGCAAGAACCTGGAGAAG | GAGACCAGGCACCTGGATGAGATGAAGTCGGCCATGCGG c.3540
M R K N L E K | E T R H L D E M K S A M R p.1180
. . . . . . g.91246
AAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTGAATCAGTTGGAGTCCTCTCTT c.3600
K G H N L L K K K E E K L N Q L E S S L p.1200
| 29 . . . . . g.92163
TGGGAAGAG | GCCTCAGATGAGGGCACTCTGGGAGGATCCCCCACCAAGAAGGCAGTAACC c.3660
W E E | A S D E G T L G G S P T K K A V T p.1220
. . . . . . g.92223
TTCGACCTCAGTGACATGGACAGCCTGAGCAGTGAAAGTTCTGAATCTTTTTCCCCGCCT c.3720
F D L S D M D S L S S E S S E S F S P P p.1240
. . | 30 . . . g.92872
CACCGTGAGTGGTGGCGGCAGCAGAGGA | TCGACTCAACCCCGAGTCTCACCTCCCGCAAG c.3780
H R E W W R Q Q R I | D S T P S L T S R K p.1260
. . . . . . g.92932
ATCCACGGGCTTAGCCACTCCCTCCGGCAGATCAGCAGCCAGCTGAGCAGTGTCCTCAGC c.3840
I H G L S H S L R Q I S S Q L S S V L S p.1280
. . . . . . g.92992
ATCCTGGACAGCCTCAACCCTCAGTCGCCGCCGCCGCTCCTCGCCTCCATGCCAGCCCAG c.3900
I L D S L N P Q S P P P L L A S M P A Q p.1300
. . . . . . g.93052
CTCCCTCCCCGGGACCCTAAGAGCACCCCCACCCCCACCTACTATGGCTCCCTGGCCAGG c.3960
L P P R D P K S T P T P T Y Y G S L A R p.1320
. . . . . . g.93112
TTCTCAGCCTTATCATCTGCTACACCCACGTCCACCCAATGGGCCTGGGATTCAGGGCAG c.4020
F S A L S S A T P T S T Q W A W D S G Q p.1340
. . . . . . g.93172
GGGCCCAGGCTCCCCTCCTCTGTGGCTCAAACGGTGGACGACTTCCTGTTGGAGAAGTGG c.4080
G P R L P S S V A Q T V D D F L L E K W p.1360
. | 31 . . . . . g.94094
CGCAAGTATTTTCCAT | CTGGCATCCCGCTGCTCAGCAACAGCCCCACCCCGCTGGAGAGC c.4140
R K Y F P S | G I P L L S N S P T P L E S p.1380
. . | 32 . . . . g.95054
AGGCTGGGTTACATGTCTGCCAG | TGAGCAGCTCCGGCTCCTACAGCACTCCCATTCGCAA c.4200
R L G Y M S A S | E Q L R L L Q H S H S Q p.1400
. . . . . . g.95114
GTCCCTGAGGCGGGCAGCACCACCTTTCAGGGCATAATTGAGGCCAACCGGAGGTGGCTG c.4260
V P E A G S T T F Q G I I E A N R R W L p.1420
. . | 33 . . . . g.95328
GAACGTGTCAAGAATGACCCCAGGTT | ACCTCTCTTCTCGTCAACACCCAAGCCAAAAGCT c.4320
E R V K N D P R L | P L F S S T P K P K A p.1440
. . . . . . g.95388
ACTTTGAGCCTCCTGCAGCTGGGCCTTGATGAGCACAACAGAGTGAAGGTGTATCGCTTC c.4380
T L S L L Q L G L D E H N R V K V Y R F p.1460
g.95391
TGA c.4383
X p.1460
. . . . . . g.95451
ggccctgagcaggggcttggggcagcccagcctctcctccacccagaccaagtgcctgag c.*60
. . . . . . g.95511
gagctgcctgccttcttccatctgagaaagcaccctccttccccctttgacttgcaggag c.*120
. . . . . . g.95571
ccaccagggaccagggggttgagtggaacagtaaagccacacattctgtgactatataac c.*180
. . . . . . g.95631
ctatctcaggctaaaatgtgtggactcgtacgagctcttgtcattgacatggcaagctga c.*240
. . . . . . g.95691
tggcgtgcggtggctgcggggtatcagggccgggagccctttgggaggaagggaggcgtt c.*300
. . . . . . g.95751
agaggagctgccttcggaggctcagggagtccctttggagctggttgtttccttggccct c.*360
. . . . . . g.95811
gcagcgcactgctcggggctcccaaggaggttgtgtgtatggttcttaattcatcaggac c.*420
. . . . . . g.95871
aaagacccccagcatgtgtgtaccctgggacccgatttctctgggcccacatctatctcc c.*480
. . . . . . g.95931
aatacctcagcctcagatcagaccctttcttttttgtctttcttctcttaatttttaaat c.*540
. . . . . . g.95991
gcctcttttcttgagcattccatctctctttttgaccctctcaggactgggcttagctgt c.*600
. . . . . . g.96051
ccagagccctgccggagggtgctgggggctgtccctctgcaggcactgtgttttcctcag c.*660
. . . . . . g.96111
gggctgtcctcagaacacccctcctgctccctggggctcctcagggagccatttcagctg c.*720
. . . . . . g.96171
gagtctcaggtctcaaaaacaacttctccaggaggccaaaaaaagactgggttggcttct c.*780
. . . . . . g.96231
ggtcctcatgatggcttttatcctcctgggacactttgggtatattcatgggcattgttt c.*840
. . . . . . g.96291
ccatctgtcttttctacctgtgccacccctgccctgattccacggctgcctcaggcaggc c.*900
. . . . . . g.96351
aggcaaggagctaggccggtgcccggccctggcagcaaggggtctttgtgcagttggaga c.*960
. . . . . . g.96411
tgctgccgttgtggcagagcgtcctgcagccccgcttccatcagcaggctctggggtggg c.*1020
. . . . . . g.96471
ggctttgcaggggatgctctctgatgtttgttccgttgtttaaataaaatgcacttattt c.*1080
. g.96489
ttgtttttttttttgcaa c.*1098
(downstream sequence)
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