(used for variant description)
(last modified November 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_020247.4 in the ADCK3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012825.1, covering ADCK3 transcript NM_020247.4.
(upstream sequence)
. . . . . g.5052
agcggcccgcggggcggggcttgtgagctggggctcccccggagcgggcgag c.-121
. . . . . . g.5112
ttggtaaacagatccggagcgcgtggcgggcgtcagcgcggtggccagcgcgcagaggcg c.-61
. . . . . . | 02 g.26149
ggcgcggaggcggctagaaggtgaccgcggatcccagcttcctgcagccag | ccctgaagg c.-1
. . . . . . g.26209
ATGGCTGCCATATTGGGAGACACCATCATGGTGGCTAAAGGCCTTGTCAAGCTGACCCAG c.60
M A A I L G D T I M V A K G L V K L T Q p.20
. . . . . . g.26269
GCGGCCGTGGAAACCCACCTGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCGGCC c.120
A A V E T H L Q H L G I G G E L I M A A p.40
. . . . . | 03. g.29766
AGGGCCCTGCAGTCCACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAG | GGT c.180
R A L Q S T A V E Q I G M F L G K V Q | G p.60
. . . . . . g.29826
CAGGATAAACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCAGAAGGGGAGTTCCAC c.240
Q D K H E E Y F A E N F G G P E G E F H p.80
. . . . . . g.29886
TTCTCAGTCCCGCATGCAGCCGGAGCCTCCACAGACTTCTCTTCAGCCTCCGCTCCCGAC c.300
F S V P H A A G A S T D F S S A S A P D p.100
. . . . . . g.29946
CAGTCAGCGCCCCCATCCCTGGGTCATGCCCACAGCGAGGGCCCAGCTCCTGCCTACGTG c.360
Q S A P P S L G H A H S E G P A P A Y V p.120
. . . . . . g.30006
GCCAGTGGACCCTTTAGAGAAGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGCAGG c.420
A S G P F R E A G F P G Q A S S P L G R p.140
. . . . . . g.30066
GCCAACGGGAGGCTCTTTGCAAACCCCAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA c.480
A N G R L F A N P R D S F S A M G F Q R p.160
. . . . . . g.30126
AGGTTCTTCCACCAGGACCAATCCCCTGTTGGGGGCCTCACAGCCGAGGACATTGAGAAG c.540
R F F H Q D Q S P V G G L T A E D I E K p.180
. . . . | 04 . g.30446
GCCCGGCAGGCTAAGGCTCGCCCCGAGAACAAGCAGCACAAACAGACG | CTCAGCGAGCAT c.600
A R Q A K A R P E N K Q H K Q T | L S E H p.200
. . . . . | 05 . g.42217
GCCCGGGAGCGGAAGGTGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAG | GTCTG c.660
A R E R K V P V T R I G R L A N F G G | L p.220
. . . . . . g.42277
GCCGTGGGCCTGGGCTTCGGGGCACTGGCAGAGGTCGCCAAGAAGAGCCTGCGCTCCGAG c.720
A V G L G F G A L A E V A K K S L R S E p.240
. | 06 . . . . . g.46840
GACCCCTCAG | GGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGCA c.780
D P S G | K K A V L G S S P F L S E A N A p.260
. . . . . . g.46900
GAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATG c.840
E R I V R T L C K V R G A A L K L G Q M p.280
. | 07 . . . . . g.47488
CTGAGCATCCAGG | ATGATGCCTTTATCAACCCCCACCTGGCTAAGATCTTCGAGCGGGTG c.900
L S I Q D | D A F I N P H L A K I F E R V p.300
. . . | 08 . . g.47678
CGGCAGAGCGCGGACTTCATGCCACTGAAGCAGATGATG | AAAACTCTCAACAACGACCTG c.960
R Q S A D F M P L K Q M M | K T L N N D L p.320
. . . . . . g.47738
GGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCC c.1020
G P N W R D K L E Y F E E R P F A A A S p.340
. . . . . . g.47798
ATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAG c.1080
I G Q V H L A R M K G G R E V A M K I Q p.360
| 09 . . . . . . g.48375
| TACCCTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAACCTCATGGCCGTGTTGAAC c.1140
| Y P G V A Q S I N S D V N N L M A V L N p.380
. . | 10 . . . . g.48562
ATGAGCAACATGCTTCCAGAAG | GCCTGTTCCCCGAGCACCTGATCGACGTGCTGAGGCGG c.1200
M S N M L P E G | L F P E H L I D V L R R p.400
. . . . . | 11 . g.48861
GAGCTGGCCCTGGAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGCAAGTTCAG | GGAC c.1260
E L A L E C D Y Q R E A A C A R K F R | D p.420
. . . . . . g.48921
CTGCTGAAGGGCCACCCCTTCTTCTATGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCA c.1320
L L K G H P F F Y V P E I V D E L C S P p.440
. . . . . . g.48981
CATGTGCTGACCACAGAGCTGGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTCAGC c.1380
H V L T T E L V S G F P L D Q A E G L S p.460
. | 12 . . . . g.49353
CAGGAGATTCGGAACGAG | ATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTC c.1440
Q E I R N E | I C Y N I L V L C L R E L F p.480
. . . . . . g.49413
GAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAG c.1500
E F H F M Q T D P N W S N F F Y D P Q Q p.500
| 13 . . . . . . g.49693
CACAAG | GTGGCTCTTTTGGATTTTGGGGCAACGCGGGAATATGACAGATCCTTCACCGAC c.1560
H K | V A L L D F G A T R E Y D R S F T D p.520
. | 14 . . . . . g.50065
CTCTACATTCAG | ATCATCAGGGCTGCTGCCGACAGGGACAGGGAGACTGTGCGGGCGAAA c.1620
L Y I Q | I I R A A A D R D R E T V R A K p.540
. . . | 15 . . g.51237
TCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAG | GTCATGGAAGACGCCCACTTG c.1680
S I E M K F L T G Y E V K | V M E D A H L p.560
. . . . . . g.51297
GATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTTTGGCACT c.1740
D A I L I L G E A F A S D E P F D F G T p.580
. . . . . . g.51357
CAGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTCATGCTGAGGCACCGTCTCGTC c.1800
Q S T T E K I H N L I P V M L R H R L V p.600
. . . . . . g.51417
CCCCCACCCGAGGAAACCTACTCCCTGCACAGGAAGATGGGGGGCTCCTTCCTCATCTGC c.1860
P P P E E T Y S L H R K M G G S F L I C p.620
. . . . . . g.51477
TCCAAGCTGAAGGCCCGCTTCCCCTGCAAGGCCATGTTCGAGGAGGCCTACAGCAACTAC c.1920
S K L K A R F P C K A M F E E A Y S N Y p.640
. . g.51501
TGCAAGAGGCAGGCCCAGCAGTAG c.1944
C K R Q A Q Q X p.647
. . . . . . g.51561
ggctgcgggccacgcccaggccggctccgcgggaactctctccctcagacaggccaaaaa c.*60
. . . . . . g.51621
ccagtagcgaggtcgtggtgatgctctttttaactcctttgcccaataaggggggtggct c.*120
. . . . . . g.51681
gcctggagccccgtagccagcgctttccacggtttctgttgctaaatggttgtagggtga c.*180
. . . . . . g.51741
gaagtgcaagaatgaagatgaagccccactgctcggtcagtctgcctccgtgtgtcctct c.*240
. . . . . . g.51801
gaaataagcagatgaagatgaaagggcaactttgttttcttctttttcctgatgtgaatg c.*300
. . . . . . g.51861
ttaagcagaagggagagagtccttactcccttccaatctctgttcagtgcaaaacccaga c.*360
. . . . . . g.51921
aacatgaacagatacgattgtgggattttatcatctgtgtagtaggtgtgtgtatgtgtt c.*420
. . . . . . g.51981
tctagagtgagatttgtgttttctgcccttttcctctccagccgatgggctggagctggg c.*480
. . . . . . g.52041
agaggtgctgagctaacagtgccaacaagtgctccttaagcctgcgaggcccaggcctgt c.*540
. . . . . . g.52101
ggggctggttctcacctttgacagctgaatgttcctaaagaactgctgccccacagtgag c.*600
. . . . . . g.52161
ggtgggagcagcggaacagggaatgccagacacaggctcgctgctgctggaaggcggggt c.*660
. . . . . . g.52221
gggacttccttcctctgtccggagaggcacaggtgtcaccagttccagccaaaggctcct c.*720
. . . . . . g.52281
cacaggcgctgtgaatttttgtacaagtcttgtaattatcgaatcaacaacttgtttcaa c.*780
. . g.52309
tttaataaaaatgctcatgggaagtgct c.*808
(downstream sequence)
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