(used for variant description)
(last modified July 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001178010.2 in the CDC45 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052958.1, covering CDC45 transcript NM_001178010.2.
(upstream sequence)
. . g.4958
aaagaaaggaaggctgggaacta c.-121
. . . . . . g.5018
agaagctattggttggtgatccctggaccaatcggaggagccgtgatttggcgggagtct c.-61
. . . . . . g.5078
tgaccgccgccgggctcttggtacctcagcgcgagcgccaggcgtccggccgccgtggct c.-1
. . . . . | 02 . g.5276
ATGTTCGTGTCCGATTTCCGCAAAGAGTTCTACGAGGTGGTCCAGAGCCAG | AGGGTCCTT c.60
M F V S D F R K E F Y E V V Q S Q | R V L p.20
. . . . . | 03 . g.6071
CTCTTCGTGGCCTCGGACGTGGATGCTCTGTGTGCGTGCAAGATCCTTCAG | GCCTTGTTC c.120
L F V A S D V D A L C A C K I L Q | A L F p.40
. . . . . . g.6131
CAGTGTGACCACGTGCAATATACGCTGGTTCCAGTTTCTGGGTGGCAAGAACTTGAAACT c.180
Q C D H V Q Y T L V P V S G W Q E L E T p.60
. . | 04 . . . . g.7835
GCATTTCTTGAGCATAAAGAACAG | TTTCATTATTTTATTCTCATAAACTGTGGAGCTAAT c.240
A F L E H K E Q | F H Y F I L I N C G A N p.80
. . . . . . g.7895
GTAGACCTATTGGATATTCTTCAACCTGATGAAGACACTATATTCTTTGTGTGTGACACC c.300
V D L L D I L Q P D E D T I F F V C D T p.100
. . . . | 05 . . g.8989
CATAGGCCAGTCAATGTCGTCAATGTATACAACGATACCCAG | ATCAAATTACTCATTAAA c.360
H R P V N V V N V Y N D T Q | I K L L I K p.120
. . . . . . g.9049
CAAGATGATGACCTTGAAGTTCCCGCCTATGAAGACATCTTCAGGGATGAAGAGGAGGAT c.420
Q D D D L E V P A Y E D I F R D E E E D p.140
. . . . . . g.9109
GAAGAGCATTCAGGAAATGACAGTGATGGGTCAGAGCCTTCTGAGAAGCGCACACGGTTA c.480
E E H S G N D S D G S E P S E K R T R L p.160
| 06 . . . . . . g.19490
GAAGAG | GAGATAGTGGAGCAAACCATGCGGAGGAGGCAGCGGCGAGAGTGGGAGGCCCGG c.540
E E | E I V E Q T M R R R Q R R E W E A R p.180
| 07 . . . . . . g.19674
AG | TGGCTCTGGGAGTGAACCTGTGGCCGCTGCATTGGAGAAGAGCTCCAGGTTGTTCGCC c.600
S | G S G S E P V A A A L E K S S R L F A p.200
. . . | 08 . . g.21112
GGTCCCATGAGTGACAGGACAGCCCCAAGGTCTCCCAG | AAGAGACATCCTCTTTGACTAC c.660
G P M S D R T A P R S P R | R D I L F D Y p.220
. . | 09. . . . g.22528
GAGCAGTATGAATATCATGGGACATCG | TCAGCCATGGTGATGTTTGAGCTGGCTTGGATG c.720
E Q Y E Y H G T S | S A M V M F E L A W M p.240
. . | 10 . . . g.24241
CTGTCCAAGGACCTGAATGACATGCTGTG | GTGGGCCATCGTTGGACTAACAGACCAGTGG c.780
L S K D L N D M L W | W A I V G L T D Q W p.260
. . | 11 . . . . g.30511
GTGCAAGACAAGATCACTCA | AATGAAATACGTGACTGATGTTGGTGTCCTGCAGCGCCAC c.840
V Q D K I T Q | M K Y V T D V G V L Q R H p.280
. . . . . . g.30571
GTTTCCCGCCACAACCACCGGAACGAGGATGAGGAGAACACACTCTCCGTGGACTGCACA c.900
V S R H N H R N E D E E N T L S V D C T p.300
. . | 12 . . . . g.32535
CGGATCTCCTTTGAGTATGA | CCTCCGCCTGGTGCTCTACCAGCACTGGTCCCTCCATGAC c.960
R I S F E Y D | L R L V L Y Q H W S L H D p.320
. . . . . . g.32595
AGCCTGTGCAACACCAGCTATACCGCAGCCAGGTTCAAGCTGTGGTCTGTGCATGGACAG c.1020
S L C N T S Y T A A R F K L W S V H G Q p.340
. . . | 13 . . . g.32903
AAGCGGCTCCAGGAGTTCCTTGCAGACATGGG | TCTTCCCCTGAAGCAGGTGAAGCAGAAG c.1080
K R L Q E F L A D M G | L P L K Q V K Q K p.360
. . . . . . g.32963
TTCCAGGCCATGGACATCTCCTTGAAGGAGAATTTGCGGGAAATGATTGAAGAGTCTGCA c.1140
F Q A M D I S L K E N L R E M I E E S A p.380
. | 14 . . . . . g.33688
AATAAATTTGG | GATGAAGGACATGCGCGTGCAGACTTTCAGCATTCATTTTGGGTTCAAG c.1200
N K F G | M K D M R V Q T F S I H F G F K p.400
. . . . . . g.33748
CACAAGTTTCTGGCCAGCGACGTGGTCTTTGCCACCATGTCTTTGATGGAGAGCCCCGAG c.1260
H K F L A S D V V F A T M S L M E S P E p.420
. . . . . | 15 . g.39865
AAGGATGGCTCAGGGACAGATCACTTCATCCAGGCTCTGGACAGCCTCTCCAG | GAGTAAC c.1320
K D G S G T D H F I Q A L D S L S R | S N p.440
. . . . . . g.39925
CTGGACAAGCTGTACCATGGCCTGGAACTCGCCAAGAAGCAGCTGCGAGCCACCCAGCAG c.1380
L D K L Y H G L E L A K K Q L R A T Q Q p.460
. . . . . . g.39985
ACCATTGCCAGCTGCCTTTGCACCAACCTCGTCATCTCCCAGGGGCCTTTCCTGTACTGC c.1440
T I A S C L C T N L V I S Q G P F L Y C p.480
. | 16 . . . . . g.40122
TCTCTCATGGAG | GGCACTCCAGATGTCATGCTGTTCTCTAGGCCGGCATCCCTAAGCCTG c.1500
S L M E | G T P D V M L F S R P A S L S L p.500
. . . | 17 . . . g.41660
CTCAGCAAACACCTGCTCAAGTCCTTTGTGTGTTCG | ACAAAGAACCGGCGCTGCAAACTG c.1560
L S K H L L K S F V C S | T K N R R C K L p.520
. . . . . . g.41720
CTGCCCCTGGTGATGGCTGCCCCCCTGAGCATGGAGCATGGCACAGTGACCGTGGTGGGC c.1620
L P L V M A A P L S M E H G T V T V V G p.540
. . . | 18 . . . g.41951
ATCCCCCCAGAGACCGACAGCTCGGACAGGAAGAA | CTTTTTTGGGAGGGCGTTTGAGAAG c.1680
I P P E T D S S D R K N | F F G R A F E K p.560
. . . . . | 19 . g.43961
GCAGCGGAAAGCACCAGCTCCCGGATGCTGCACAACCATTTTGACCTCTCAG | TAATTGAG c.1740
A A E S T S S R M L H N H F D L S V | I E p.580
. . . . . g.44018
CTGAAAGCTGAGGATCGGAGCAAGTTTCTGGACGCACTTATTTCCCTCCTGTCCTAG | c.1798
L K A E D R S K F L D A L I S L L S X p.598
| 20 . . . . . . g.45649
g | aatttgattcttccagaatgaccttcttatttatgtaactggctttcatttagattgta c.*60
. . . . . . g.45709
agttatggacatgatttgagatgtagaagccattttttattaaataaaatgcttatttta c.*120
. g.45722
ggctccgtcccca c.*133
(downstream sequence)
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