(used for variant description)
(last modified June 26, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014679.4 in the CEP57 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029829.1, covering CEP57 transcript NM_014679.4.
(upstream sequence)
. . . . . g.5058
gattggctaggaaagacgtccgttaggacgtgttgccctttctgtgtaagctgtgagc c.-181
. . . . . . g.5118
gtaggcggccctgagggggtgtgttgcaggggtttccaagcccagcaccagcacccttgc c.-121
. . . . . . g.5178
ccttttccatcaggggttcagcctagggtccccgctggtgggcggctcccgagtcttgga c.-61
. . . . . . g.5238
gaagagcacgagaacctagaccgcccccgaagtgcggagaccccctgggcaggctgaaag c.-1
. . . . | 02 . . g.13786
ATGGCGGCGGCGTCTGTCTCTGCGGCTTCTGGTTCTCACTTGTCG | AACAGCTTTGCTGAG c.60
M A A A S V S A A S G S H L S | N S F A E p.20
. . . . . . g.13846
CCATCAAGGTCTAATGGAAGCATGGTTCGGCATTCTTCATCTCCATATGTAGTATATCCT c.120
P S R S N G S M V R H S S S P Y V V Y P p.40
. . . . . . g.13906
TCGGATAAGCCTTTCCTTAATAGTGATCTACGACGCTCCCCAAGTAAGCCTACACTTGCC c.180
S D K P F L N S D L R R S P S K P T L A p.60
. . | 03 . . . . g.27509
TATCCAGAAAGCAACAGCAGAG | CCATATTTTCTGCTCTTAAGAATCTTCAAGATAAGATT c.240
Y P E S N S R A | I F S A L K N L Q D K I p.80
. . . . . . g.27569
CGACGCTTGGAACTTGAGAGGATTCAGGCAGAAGAAAGTGTGAAAACCTTGTCTAGAGAA c.300
R R L E L E R I Q A E E S V K T L S R E p.100
. . . . . . g.27629
ACAATTGAATATAAGAAAGTACTGGATGAACAGATACAAGAAAGGGAGAATTCAAAGAAT c.360
T I E Y K K V L D E Q I Q E R E N S K N p.120
. . | 04 . . . . g.28045
GAGGAATCAAAGCACAATCAAG | AACTGACATCTCAGTTGTTAGCTGCAGAAAATAAATGC c.420
E E S K H N Q E | L T S Q L L A A E N K C p.140
. . . . . . g.28105
AATCTATTAGAAAAACAATTGGAATACATGCGAAATATGATAAAGCATGCCGAAATGGAG c.480
N L L E K Q L E Y M R N M I K H A E M E p.160
. . | 05 . . . . g.32362
AGGACATCTGTCTTAGAGAAACAA | GTTTCCCTAGAAAGAGAACGACAACATGATCAAACA c.540
R T S V L E K Q | V S L E R E R Q H D Q T p.180
. . . . . . g.32422
CATGTTCAGAGCCAACTTGAAAAATTGGATCTTCTTGAACAGGAGTATAACAAACTTACC c.600
H V Q S Q L E K L D L L E Q E Y N K L T p.200
. . | 06 . . . . g.33405
ACAATGCAGGCCCTTGCAGAA | AAAAAAATGCAAGAGTTGGAAGCAAAACTCCATGAAGAA c.660
T M Q A L A E | K K M Q E L E A K L H E E p.220
. . . | 07 . . g.36431
GAACAGGAAAGGAAACGCATGCAAGCTAAGGCAGCTGAG | TTGCAGACTGGTCTAGAAACA c.720
E Q E R K R M Q A K A A E | L Q T G L E T p.240
. . . . . . g.36491
AATAGACTTATCTTTGAAGATAAGGCAACTCCGTGTGTTCCCAATGCAAGAAGAATTAAA c.780
N R L I F E D K A T P C V P N A R R I K p.260
. . | 08. . . . g.37071
AAAAAGAAGTCAAAACCACCAGAAAAG | AAAAGTTCTAGGAACTATTTTGGTGCACAACCA c.840
K K K S K P P E K | K S S R N Y F G A Q P p.280
. . . . | 09 . . g.42340
CATTATAGATTATGCTTGGGTGATATGCCATTTGTAGCTGGGAAG | TCCACAAGCCCTAGC c.900
H Y R L C L G D M P F V A G K | S T S P S p.300
. . . . . . g.42400
CATGCCGTGGTAGCCAATGTTCAGCTTGTCTTGCATCTAATGAAGCAACACAGTAAAGCT c.960
H A V V A N V Q L V L H L M K Q H S K A p.320
. . . . . . g.42460
TTGTGCAATGATCGAGTCATCAACAGTATTCCTTTGGCAAAGCAAGTATCTTCACGAGGT c.1020
L C N D R V I N S I P L A K Q V S S R G p.340
. . . . . . g.42520
GGTAAAAGTAAGAAGTTGTCAGTAACACCTCCCTCCTCCAACGGTATTAATGAGGAGTTG c.1080
G K S K K L S V T P P S S N G I N E E L p.360
. . . . | 10. . g.43739
TCAGAAGTCTTACAGACTTTACAGGATGAATTTGGGCAAATGAGCTT | TGATCACCAGCAG c.1140
S E V L Q T L Q D E F G Q M S F | D H Q Q p.380
. . . . . . g.43799
CTTGCAAAACTTATCCAGGAGTCGCCAACCGTTGAACTGAAAGACAAGTTGGAGTGTGAA c.1200
L A K L I Q E S P T V E L K D K L E C E p.400
. . . . . . g.43859
TTGGAGGCATTAGTGGGAAGGATGGAAGCAAAAGCCAACCAAATAACTAAAGTTCGAAAA c.1260
L E A L V G R M E A K A N Q I T K V R K p.420
. | 11 . . . . . g.45613
TACCAAGCCCAG | CTGGAGAAACAGAAGTTAGAGAAGCAGAAGAAGGAATTAAAAGCTACC c.1320
Y Q A Q | L E K Q K L E K Q K K E L K A T p.440
. . . . . . g.45673
AAAAAGACTCTTGATGAAGAAAGAAACAGCAGCAGCCGTTCTGGAATCACAGGGACCACA c.1380
K K T L D E E R N S S S R S G I T G T T p.460
. . . . . . g.45733
AATAAGAAAGATTTTATGAAACTGAGACCTGGAGAAAAAAGGAGAAAAAATCTTCAGTTA c.1440
N K K D F M K L R P G E K R R K N L Q L p.480
. . . . . . g.45793
TTGAAGGACATGCAAAGCATACAGAATTCATTACAAAGCAGTAGTTTGTGTTGGGATTAC c.1500
L K D M Q S I Q N S L Q S S S L C W D Y p.500
g.45796
TGA c.1503
X p.500
. . . . . . g.45856
ctcataaccaggtcagaaattttattcagataatctgtacctcatcaatcagatgatgac c.*60
. . . . . . g.45916
aatttacttcccaggtctcatactcacttatgttggaattaattaatagcaggtgttaaa c.*120
. . . . . . g.45976
ggacccaggcttcattacacaggcttttcatgtatgcaggatgactcaatgttaaagcat c.*180
. . . . . . g.46036
ttaaatggaaaccaggggagttttaaagcccgagaaaccacacataatcttttgttgaga c.*240
. . . . . . g.46096
tgagtttgctgtactgacgctgcactttgtaaacagattaccagttttttacttgtgggt c.*300
. . . . . . g.46156
gtgattttttaaaatagttctttatatataattaaaattaggtttaaattttcaaaatat c.*360
. . . . . . g.46216
gagactatgctataggcagtgcttgcttgaaaagtctcatttttaaatctccctggcatg c.*420
. . . . . . g.46276
aggtgcccacttcccctttccaaagcaaccattaaacatactttgtttctactattggtg c.*480
. . . . . . g.46336
gagtttttctatatttaaaaatacatatatatttcagaggatttttattttgctttttgg c.*540
. . . . . . g.46396
catttcagactttgatcagtgttaagtgcacttgtattgctttttaatctgttaattttt c.*600
. . . . . . g.46456
taaagacccaagcagtcattttgagttatatctataaaaattataaaaggatttttgaaa c.*660
. . . . . . g.46516
gtataaacaaattgtcagtgaaataaatgagattttggaataaagtgagaatgggagaag c.*720
. . . . . . g.46576
ggatatgttgtgagcatataccttcacagttcttaatacctgttttgtaatcatgatatt c.*780
. . . . . . g.46636
cagtcaaggcattatggtttttaatcttgaaacttagagaaccctttgaatatttgcttt c.*840
. . . . . . g.46696
tactggtgtacagtatgagtggaatataaactgtacacataattatcatgttgatataaa c.*900
. . . . . . g.46756
tcataatttcaactagatcaagacatgttaaccttttataaatttaaagtcaataaagca c.*960
. . . . . . g.46816
cctttttaaaggaaacactgcaactttccttaacagcctgttaataaaggctttgtgaca c.*1020
. . . . . . g.46876
agctctcaaaaaatgcatttctaaataggaggacatcaatgtattgatgaagagaaaaaa c.*1080
. . . . . . g.46936
ctagtacttagttgccacactcatgcttacatagaaagagagcccaagaatattagattt c.*1140
. . . . . . g.46996
cctcatgatacaagatactacagtaacaggctttaatttaggatccttaagattttgggg c.*1200
. . . . . . g.47056
tattatttgtgactctcctgaaattgtaaacttgtgcttctgtgtccagttttctaatga c.*1260
. . . . . . g.47116
gtaggttcgtagcttgattgaattaataattgtgagcccatagacacaagggaagtgaga c.*1320
. . . . . . g.47176
aacagtgctctggtgacatgataaatatatgtgtcaaccaccatttcagctattaaaaac c.*1380
. . . . . g.47233
tcctgttatctccttgtttgaatttcaggtcattaaattgtataaccatcatttgaa c.*1437
(downstream sequence)
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