(used for variant description)
(last modified March 14, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001194998.1 in the CEP152 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering CEP152 transcript NM_001194998.1.
(upstream sequence)
. g.5013
gcccaccgggcga c.-181
. . . . . . g.5073
gcttctagtcggcgattgaaggatgcgagtgctccttaagggcctccgccccgtgagttc c.-121
. . . . . . g.5133
ggttgtgactaggaaggagctagtggactagagccagggtaaggggatctgctagaagtt c.-61
. . . . . . | 02 g.10497
ggtcttccgccaggactagagtttcctcgcggtaacagcctccgtggcctccg | gaggacc c.-1
. . . . . . g.10557
ATGTCATTAGACTTTGGCAGTGTGGCACTACCAGTGCAAAATGAAGATGAAGAGTATGAC c.60
M S L D F G S V A L P V Q N E D E E Y D p.20
. . | 03. . . . g.18128
GAAGAGGACTATGAAAGAGAGAAAGAG | TTGCAGCAGTTACTCACAGACCTTCCCCATGAC c.120
E E D Y E R E K E | L Q Q L L T D L P H D p.40
. . . . . . g.18188
ATGCTGGATGACGACCTCTCCTCTCCAGAGCTCCAGTATTCGGACTGCAGCGAGGATGGC c.180
M L D D D L S S P E L Q Y S D C S E D G p.60
. | 04 . . . . . g.18465
ACAGACGGACA | ACCACATCATCCTGAGCAATTGGAGATGAGCTGGAATGAGCAAATGCTG c.240
T D G Q | P H H P E Q L E M S W N E Q M L p.80
. . | 05 . . . . g.18606
CCCAAATCTCAAAGTGTAAAT | GGCTATAATGAAATTCAGAGTTTATATGCTGGAGAAAAA c.300
P K S Q S V N | G Y N E I Q S L Y A G E K p.100
. . . . . . g.18666
TGTGGTAATGTCTGGGAAGAAAATAGAAGTAAAACTGAAGACCGACATCCTGTGTACCAT c.360
C G N V W E E N R S K T E D R H P V Y H p.120
. . . . . . g.18726
CCTGAAGAAGGTGGAGATGAAGGTGGAAGTGGTTATAGTCCTCCAAGTAAATGTGAACAG c.420
P E E G G D E G G S G Y S P P S K C E Q p.140
. . . . . . g.18786
ACTGATTTATATCACCTTCCTGAAAACTTTAGGCCATATACCAATGGTCAGAAGCAGGAA c.480
T D L Y H L P E N F R P Y T N G Q K Q E p.160
. . . . . . g.18846
TTTAATAACCAAGCAACCAATGTAATTAAATTTTCAGATCCTCAATGGAACCATTTTCAG c.540
F N N Q A T N V I K F S D P Q W N H F Q p.180
| 06 . . . . . . g.20046
| GGTCCCAGTTGTCAAGGTTTGGAACCGTATAATAAAGTGACATATAAACCTTATCAGTCT c.600
| G P S C Q G L E P Y N K V T Y K P Y Q S p.200
. . . . . . g.20106
TCTGCCCAGAATAATGGCTCACCAGCCCAGGAGATAACAGGAAGTGACACATTCGAAGGC c.660
S A Q N N G S P A Q E I T G S D T F E G p.220
. . . | 07 . . . g.22714
CTGCAACAACAATTTTTAGGAGCTAATGAGA | ACTCTGCAGAAAATATGCAGATTATTCAA c.720
L Q Q Q F L G A N E N | S A E N M Q I I Q p.240
. . . . . . g.22774
CTTCAGGTTCTTAACAAAGCAAAAGAGAGACAACTGGAGAACTTAATTGAAAAGTTAAAT c.780
L Q V L N K A K E R Q L E N L I E K L N p.260
. . . . . | 08 . g.24778
GAAAGTGAACGTCAAATTCGATATCTGAATCACCAGCTTGTAATAATAAAAG | ATGAAAAG c.840
E S E R Q I R Y L N H Q L V I I K D | E K p.280
. . . . . . g.24838
GATGGTTTGACTCTCAGCCTTCGAGAATCACAGAAACTCTTTCAGAATGGAAAAGAAAGA c.900
D G L T L S L R E S Q K L F Q N G K E R p.300
. . . . . . g.24898
GAGATACAGCTTGAAGCTCAAATAAAAGCACTGGAGACTCAGATACAAGCATTAAAAGTC c.960
E I Q L E A Q I K A L E T Q I Q A L K V p.320
. | 09 . . . . . g.27193
AATGAAGAACAG | ATGATCAAGAAGTCCAGAACAACTGAAATGGCTCTGGAAAGCTTGAAG c.1020
N E E Q | M I K K S R T T E M A L E S L K p.340
. . . . . . g.27253
CAGCAGCTGGTGGACCTTCATCATTCTGAATCACTTCAACGAGCTAGAGAACAGCATGAG c.1080
Q Q L V D L H H S E S L Q R A R E Q H E p.360
. . . . . . g.27313
AGCATTGTTATGGGCCTCACAAAGAAGTACGAAGAGCAAGTATTGTCCTTACAAAAGAAT c.1140
S I V M G L T K K Y E E Q V L S L Q K N p.380
. . . | 10 . . . g.32053
TTGGATGCCACAGTCACCGCACTTAAAGAACAG | GAAGACATTTGCTCTCGTCTGAAAGAT c.1200
L D A T V T A L K E Q | E D I C S R L K D p.400
. . . . . . g.32113
CACGTGAAACAACTGGAAAGGAATCAAGAAGCAATCAAGTTAGAAAAGACTGAGATCATT c.1260
H V K Q L E R N Q E A I K L E K T E I I p.420
. . . . . . g.32173
AATAAGTTGACAAGAAGTCTAGAGGAGAGTCAAAAGCAGTGTGCCCACTTGTTGCAGTCC c.1320
N K L T R S L E E S Q K Q C A H L L Q S p.440
| 11 . . . . . . g.33975
G | GGTCAGTACAAGAGGTGGCTCAGCTACAGTTCCAGCTGCAGCAAGCACAGAAGGCACAT c.1380
G | S V Q E V A Q L Q F Q L Q Q A Q K A H p.460
. . . | 12 . . . g.34814
GCTATGAGTGCAAACATGAACAAGGCTTTGCAA | GAAGAATTAACAGAACTAAAAGATGAA c.1440
A M S A N M N K A L Q | E E L T E L K D E p.480
. . . . . . g.34874
ATTTCTCTCTATGAATCTGCTGCAAAACTAGGAATACATCCAAGTGACTCAGAAGGAGAA c.1500
I S L Y E S A A K L G I H P S D S E G E p.500
. . . . . . g.34934
TTAAATATAGAACTCACTGAATCGTATGTGGATTTGGGTATTAAAAAGGTCAACTGGAAA c.1560
L N I E L T E S Y V D L G I K K V N W K p.520
. | 13. . . . . g.43498
AAATCCAAAGTTACCAG | CATTGTACAAGAAGAAGACCCAAATGAAGAGCTTTCAAAAGAT c.1620
K S K V T S | I V Q E E D P N E E L S K D p.540
. . . . . . g.43558
GAGTTCATTCTGAAGTTAAAGGCAGAAGTACAGCGTTTGCTGGGTAGCAACTCAATGAAG c.1680
E F I L K L K A E V Q R L L G S N S M K p.560
. . . . . . g.43618
CGTCATCTGGTGTCTCAGTTACAAAATGACCTCAAAGACTGTCATAAGAAAATTGAAGAT c.1740
R H L V S Q L Q N D L K D C H K K I E D p.580
. . . . | 14 . . g.47083
CTCCACCAAGTGAAGAAGGATGAAAAAAGCATTGAGGTTGAG | ACTAAAACAGATACCTCA c.1800
L H Q V K K D E K S I E V E | T K T D T S p.600
. . . . . . g.47143
GAAAAACCAAAGAATCAATTATGGCCTGAGTCTTCTACTTCTGATGTTGTCAGAGATGAT c.1860
E K P K N Q L W P E S S T S D V V R D D p.620
. . . . | 15 . g.47830
ATTCTGCTGCTTAAAAATGAAATTCAAGTTTTACAACAACAAAATCAG | GAACTTAAAGAA c.1920
I L L L K N E I Q V L Q Q Q N Q | E L K E p.640
. . . . . . g.47890
ACTGAAGGAAAACTGAGAAATACAAATCAAGACTTATGTAATCAAATGAGACAAATGGTA c.1980
T E G K L R N T N Q D L C N Q M R Q M V p.660
. . . | 16 . . g.48705
CAAGATTTTGACCATGACAAACAAGAAGCTGTGGATAG | GTGTGAAAGGACTTATCAGCAG c.2040
Q D F D H D K Q E A V D R | C E R T Y Q Q p.680
. . . . . . g.48765
CACCATGAAGCCATGAAAACTCAAATACGTGAAAGCCTATTAGCAAAGCATGCTTTGGAG c.2100
H H E A M K T Q I R E S L L A K H A L E p.700
. . . . | 17. . g.48967
AAGCAGCAGCTCTTTGAGGCTTATGAGAGAACTCATTTGCAACTGAG | GTCTGAGTTGGAT c.2160
K Q Q L F E A Y E R T H L Q L R | S E L D p.720
. . . . . . g.49027
AAGTTGAATAAGGAGGTGACTGCTGTGCAGGAATGTTACCTAGAAGTGTGCAGAGAGAAG c.2220
K L N K E V T A V Q E C Y L E V C R E K p.740
. . . . . . g.49087
GATAATCTAGAATTGACTCTCAGGAAGACCACTGAAAAGGAGCAACAGACTCAGGAGAAG c.2280
D N L E L T L R K T T E K E Q Q T Q E K p.760
| 18 . . . . . . g.53534
| ATCAAAGAAAAACTCATTCAACAGCTTGAAAAGGAGTGGCAGTCTAAGCTGGATCAAACT c.2340
| I K E K L I Q Q L E K E W Q S K L D Q T p.780
. . . . . . g.53594
ATAAAGGCAATGAAAAAGAAGACCTTAGATTGTGGCAGCCAAACTGACCAAGTAACCACC c.2400
I K A M K K K T L D C G S Q T D Q V T T p.800
. . . . . . g.53654
AGTGATGTTATTTCCAAGAAAGAGATGGCAATTATGATAGAAGAGCAGAAGTGCACAATC c.2460
S D V I S K K E M A I M I E E Q K C T I p.820
. . . . . . g.53714
CAGCAAAACTTAGAACAAGAGAAGGACATAGCCATCAAGGGGGCTATGAAGAAACTCGAA c.2520
Q Q N L E Q E K D I A I K G A M K K L E p.840
. . . . | 19 . . g.55898
ATTGAATTGGAACTCAAACATTGTGAAAATATTACCAAACAG | GTAGAAATAGCTGTGCAA c.2580
I E L E L K H C E N I T K Q | V E I A V Q p.860
. . . . . . g.55958
AATGCTCATCAGCGATGGCTGGGAGAACTACCAGAGCTGGCAGAGTATCAAGCACTTGTG c.2640
N A H Q R W L G E L P E L A E Y Q A L V p.880
. . . . . | 20 . g.59599
AAGGCAGAACAGAAAAAGTGGGAAGAACAGCATGAGGTCTCTGTGAACAAAAGG | ATATCA c.2700
K A E Q K K W E E Q H E V S V N K R | I S p.900
. . . . . . g.59659
TTTGCTGTTTCTGAAGCTAAAGAGAAATGGAAGAGTGAGCTTGAAAATATGAGGAAAAAT c.2760
F A V S E A K E K W K S E L E N M R K N p.920
. . . . . . g.59719
ATACTTCCTGGAAAGGAATTGGAAGAGAAGATTCATTCTCTTCAGAAGGAACTTGAGTTA c.2820
I L P G K E L E E K I H S L Q K E L E L p.940
. . . . . . g.59779
AAGAACGAAGAAGTCCCTGTGGTCATCAGGGCTGAGTTAGCTAAGGCTCGGAGTGAATGG c.2880
K N E E V P V V I R A E L A K A R S E W p.960
. . . . . . g.59839
AACAAAGAAAAGCAAGAAGAAATCCACAGAATCCAAGAACAAAATGAGCAAGATTACCGG c.2940
N K E K Q E E I H R I Q E Q N E Q D Y R p.980
. . . . . . g.59899
CAATTTTTAGATGATCACCGAAATAAAATTAATGAGGTGCTTGCGGCAGCTAAAGAAGAC c.3000
Q F L D D H R N K I N E V L A A A K E D p.1000
. . . . . . g.59959
TTTATGAAACAAAAAACTGAACTACTTCTTCAGAAGGAGACAGAATTACAAACTTGTCTA c.3060
F M K Q K T E L L L Q K E T E L Q T C L p.1020
. . . . . . g.60019
GACCAGAGTCGTAGAGAATGGACTATGCAGGAAGCCAAGCGGATCCAACTGGAAATCTAT c.3120
D Q S R R E W T M Q E A K R I Q L E I Y p.1040
. . . . . . g.60079
CAGTATGAGGAAGACATCCTGACTGTACTTGGGGTTCTTTTAAGTGATACCCAAAAGGAG c.3180
Q Y E E D I L T V L G V L L S D T Q K E p.1060
. . . . . . g.60139
CACATCAGTGATTCTGAGGACAAGCAGCTTTTGGAAATCATGTCGACTTGTTCTTCAAAA c.3240
H I S D S E D K Q L L E I M S T C S S K p.1080
. . . . . . g.60199
TGGATGTCTGTGCAATATTTTGAAAAACTAAAGGGCTGCATACAGAAAGCATTTCAAGAT c.3300
W M S V Q Y F E K L K G C I Q K A F Q D p.1100
. . . . | 21 . . g.63692
ACACTTCCTCTGCTTGTAGAAAACGCTGACCCAGAATGGAAAAAG | AGAAATATGGCCGAG c.3360
T L P L L V E N A D P E W K K | R N M A E p.1120
. . . . . . g.63752
CTCTCTAAGGATTCTGCCAGCCAGGGCACTGGCCAAGGAGACCCTGGACCTGCTGCTGGA c.3420
L S K D S A S Q G T G Q G D P G P A A G p.1140
. . . . | 22 . . g.67550
CACCATGCTCAGCCCTTGGCCTTACAAGCAACAGAAGCAGAAGCTG | ATAAGAAAAAGGTC c.3480
H H A Q P L A L Q A T E A E A D | K K K V p.1160
. . . . . . g.67610
CTTGAAATTAAGGATTTATGCTGTGGACACTGCTTCCAAGAACTTGAAAAGGCAAAGCAG c.3540
L E I K D L C C G H C F Q E L E K A K Q p.1180
. . . . . . g.67670
GAATGTCAAGATCTGAAAGGAAAACTGGAGAAATGCTGTAGGCATCTTCAGCATTTAGAA c.3600
E C Q D L K G K L E K C C R H L Q H L E p.1200
. . . | 23 . . . g.71180
AGGAAGCACAAAGCTGTAGTGGAAAAAATTGGAG | AAGAGAATAATAAAGTTGTTGAAGAA c.3660
R K H K A V V E K I G E | E N N K V V E E p.1220
. . . . . . g.71240
TTAATAGAAGAAAACAACGACATGAAGAATAAATTGGAAGAATTGCAAACACTTTGTAAA c.3720
L I E E N N D M K N K L E E L Q T L C K p.1240
. | 24 . . . . . g.71852
ACACCACCAAG | GTCATTGTCAGCAGGGGCCATTGAAAATGCTTGCCTGCCATGCAGTGGG c.3780
T P P R | S L S A G A I E N A C L P C S G p.1260
. . . . . | 25 . g.74051
GGAGCCTTGGAAGAACTTCGTGGGCAGTACATTAAAGCTGTAAAAAAAATTAAAT | GTGAC c.3840
G A L E E L R G Q Y I K A V K K I K C | D p.1280
. . . . . . g.74111
ATGCTTCGTTATATTCAGGAGAGTAAGGAACGAGCTGCAGAAATGGTAAAAGCAGAGGTA c.3900
M L R Y I Q E S K E R A A E M V K A E V p.1300
. . . . . . g.74171
CTGCGAGAACGTCAAGAAACCGCCCGAAAGATGCGCAAATATTATTTGATTTGCCTCCAA c.3960
L R E R Q E T A R K M R K Y Y L I C L Q p.1320
. . | 26 . . . g.74473
CAGATTTTGCAGGATGATGGAAAAGAAGG | GGCTGAGAAAAAGATTATGAATGCTGCTAGC c.4020
Q I L Q D D G K E G | A E K K I M N A A S p.1340
. . . . . . g.74533
AAACTTGCTACAATGGCAAAATTACTGGAAACACCTATTTCTAGTAAGTCCCAAAGCAAA c.4080
K L A T M A K L L E T P I S S K S Q S K p.1360
. | 27 . . . . . g.76905
ACTACACAGTCAG | CACTGCCCCTAACTTCAGAGATGCTGATTGCAGTTAAAAAATCAAAA c.4140
T T Q S A | L P L T S E M L I A V K K S K p.1380
. . . . . . g.76965
AGAAATGATGTGAATCAGAAAATACCATGTTGTATTGAAAGCAAATCAAATAGTGTAAAC c.4200
R N D V N Q K I P C C I E S K S N S V N p.1400
. . . . . . g.77025
ACCATCACCAGAACTCTGTGCGAACAAGCTCCCAAGAGGAGGGCAGCTTGTAACTTACAA c.4260
T I T R T L C E Q A P K R R A A C N L Q p.1420
. . . . . . g.77085
AGGCTGTTAGAGAACTCAGAGCATCAGAGCATAAAGCATGTGGGATCCAAAGAGACACAT c.4320
R L L E N S E H Q S I K H V G S K E T H p.1440
. . . . . . g.77145
TTGGAATTCCAGTTTGGGGATGGTAGTTGCAAGCACCTAAACAGTTTGCCAAGGAATGTT c.4380
L E F Q F G D G S C K H L N S L P R N V p.1460
. . . . . . g.77205
TCTCCTGAGTTTGTTCCTTGTGAAGGTGAAGGAGGCTTTGGTTTGCACAAGAAGAAAGAC c.4440
S P E F V P C E G E G G F G L H K K K D p.1480
. . . . . . g.77265
CTACTCAGTGATAATGGTTCTGAATCACTTCCGCATTCAGCTGCATACCCCTTTCTTGGA c.4500
L L S D N G S E S L P H S A A Y P F L G p.1500
. . . . . . g.77325
ACCTTAGGAAATAAACCCTCACCTAGATGTACCCCTGGTCCTTCTGAATCAGGATGCATG c.4560
T L G N K P S P R C T P G P S E S G C M p.1520
. . . . . . g.77385
CATATAACCTTTCGCGATTCTAATGAAAGACTTGGTTTAAAAGTATATAAATGCAATCCA c.4620
H I T F R D S N E R L G L K V Y K C N P p.1540
. . . . . . g.77445
CTAATGGAAAGTGAAAATGCTGCATCTGAGAAAAGTCAAGGTTTGGATGTTCAGGAACCT c.4680
L M E S E N A A S E K S Q G L D V Q E P p.1560
. . . . . . g.77505
CCAGTAAAAGATGGAGGGGACCTTAGTGACTGCTTGGGCTGGCCTTCCAGCAGTGCAACC c.4740
P V K D G G D L S D C L G W P S S S A T p.1580
. . . . . . g.77565
TTATCCTTTGACAGTCGTGAAGCATCATTTGTACATGGTAGGCCACAAGGAACTTTGGAA c.4800
L S F D S R E A S F V H G R P Q G T L E p.1600
. . . . . . g.77625
ATACCAAGTGAATCTGTTAAATCCAAACAGTTTTCACCATCCGGTTATCTTTCAGATACA c.4860
I P S E S V K S K Q F S P S G Y L S D T p.1620
. . . . . . g.77685
GAGGAAAGTAATATGATTTGTCAAACAATGAAATGTCAGCGTTATCAAACTCCATACCTG c.4920
E E S N M I C Q T M K C Q R Y Q T P Y L p.1640
. . . . . . g.77745
TCAGAAGAAACCACGTATTTGGAGCCAGGAAAGATCAGTGTGAATTGTGGACACCCATCT c.4980
S E E T T Y L E P G K I S V N C G H P S p.1660
. . . . . . g.77805
CGTCATAAGGCTGATAGATTAAAGTCAGATTTCAAAAAACTGAGCAGTACATTACCATCT c.5040
R H K A D R L K S D F K K L S S T L P S p.1680
. . . . . . g.77865
TCAGTGTGTCAGCAGCCTTCAAGAAAATTAATTGTTCCGCTATCTAGCCAACAAGATAGT c.5100
S V C Q Q P S R K L I V P L S S Q Q D S p.1700
. . . g.77898
GGCTTTGATAGCCCATTTGTTAATCTAGACTAA c.5133
G F D S P F V N L D X p.1710
. . . . . . g.77958
ttatggtacagtatttaagaagaatcattaatatattaacaaaaatggaagggaagacct c.*60
. . . . . . g.78018
catactgaaaaaaattgtgagccctgcctcttttgagatgttttaataacatctgttata c.*120
. . . . . . g.78078
taagtaaagcattcttctaaaattgcttgagatatttatgttgccttaatattccaaagg c.*180
. . . . . . g.78138
cctgatggtgtatgtataatctgcttttgtgtggtgcttatttttggtttctaaaccatc c.*240
. . . . . . g.78198
tatttttatacttataaattgactcactctgcagtgttaacttatttaaataaacttgca c.*300
. g.78209
tatggtctgta c.*311
(downstream sequence)
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