(used for variant description)
(last modified July 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014804.2 in the KIAA0753 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering KIAA0753 transcript NM_014804.2.
(upstream sequence)
. . . . . g.5059
aatccatccgcatggctttttgctctagttcctcagatctttctgcgctagctgcactc c.-301
. . . . . . g.5119
ccaagcccaggcttagatctaccctaatctagtcccagccccgacctcatggacactggc c.-241
. . . . . . g.5179
tgcaaaacttaccgccttgcaacacctggatccttaaatagttcagggcctcaaaggctc c.-181
. . . . . . g.5239
ccaagccgccctgcgcctgttgctatggcgactgggcaggcggccggaagcgcggccttg c.-121
. . . . . . | 02 g.10764
ttgggggcccccgttgcccgcctcccagtagccgcgcctcaccctaggccag | gaatggtt c.-61
. . . . . . g.10824
ttagggaagactgttgccggatgacaaggctgtcactattgttctgtactacctgacatt c.-1
. . . . . . g.10884
ATGGGACCAGGCCAGCCAGCTTCAACCTGTGTTCATCTAGCACCTAGGACCCAACTTGAT c.60
M G P G Q P A S T C V H L A P R T Q L D p.20
. . . | 03 . . . g.17213
GGGAGGAGCGACCCCAAAGTACTTCAGACCCAG | AACCAGCTGCAGTTTAATAGGAATGTT c.120
G R S D P K V L Q T Q | N Q L Q F N R N V p.40
. . . . . . g.17273
CCTACACATTCAAGCAACTTGGCGATCCGATATTCTTGCCCACATGCCATTAGAATTGAA c.180
P T H S S N L A I R Y S C P H A I R I E p.60
. . . . . . g.17333
AAACTGAAGCACTCATACAATGAATCATACCATTGTAAAGATGCAGATTGTAGAGTTGGT c.240
K L K H S Y N E S Y H C K D A D C R V G p.80
. . . . . . g.17393
CCTGACCTGGGCAGTTCTGTTTCATTTTCCGTCATATCCCAAGAGAGACTTAGCTATGCT c.300
P D L G S S V S F S V I S Q E R L S Y A p.100
. . . . . . g.17453
GTCCACCTAGCCAGAAGAGATGTGAAACGAAGACAATTTGAAAAACATATAAAAGAACAT c.360
V H L A R R D V K R R Q F E K H I K E H p.120
. . . . . . g.17513
CATCTCAGAAGTCAGCCTCAAAGCTCTCAGAAGTGTGGACATACTAAGTATAAAATACCC c.420
H L R S Q P Q S S Q K C G H T K Y K I P p.140
. . . . . . g.17573
GACCACAGGGTGGAAAGGAAGGAATCAAAGAGTCAAGCAGCCTGTCAGTGTAGCCACCAG c.480
D H R V E R K E S K S Q A A C Q C S H Q p.160
. . . . . . g.17633
CCATCCAAAGTAGAAATCTCCAGCTCTGGTGCCAAAGTATACCTTTACTCATCTCATCCA c.540
P S K V E I S S S G A K V Y L Y S S H P p.180
. . . . . . g.17693
GGCCAGTCAGATCTTACTGTGCCAAATTCGCCACCCACCCATGATCCGGGACTTCAGCCT c.600
G Q S D L T V P N S P P T H D P G L Q P p.200
. . . . . . g.17753
CATCCCAGGATAGGTGACCACAAAAACATAAGTGAACAGAAAAGCCTGCTAGAAGTCCAG c.660
H P R I G D H K N I S E Q K S L L E V Q p.220
. . . . . | 04 g.21068
CGACTCCAGAAAGAACTGAGCAGTTGTATCCACAAAATTGAAGAGGTAACTAAAAAAG | AT c.720
R L Q K E L S S C I H K I E E V T K K D | p.240
. . . . . . g.21128
AGACTAGAAGAAGCTTTGGATCCAGATGAAGAACGTCGAATCCGTATCAGGAGACAGGAG c.780
R L E E A L D P D E E R R I R I R R Q E p.260
. . . . | 05 . . g.22371
CAAGCTGCTCGCTCTGCCCGAATGCTCTACGTCCTCCAGCAGCAG | GTAAAAGAAATCCAG c.840
Q A A R S A R M L Y V L Q Q Q | V K E I Q p.280
. . . . | 06 . g.22842
GAAGAATTGGATAAATTGAGTCCACATAAAATTAAACACACTAAGAAG | TCATGGGCAATG c.900
E E L D K L S P H K I K H T K K | S W A M p.300
. . . . . . g.22902
TCTAAGCTGGCGGCTGCCCATCGAGGAGCCATTCGGGCCTTACAGATGTTTGTCACTCAG c.960
S K L A A A H R G A I R A L Q M F V T Q p.320
. . . . . . g.22962
TTTACTGACCGAGGGGAGCATCCACTTCCTGCTCGGTGTAAGGAACTGGGCAGCCTTATT c.1020
F T D R G E H P L P A R C K E L G S L I p.340
. . . . . . g.23022
CGCCAGCTTTCACTTTGTTCTGTCAAGCTGGATGCAGACCCTTCTGTTCCTGATGTGGTT c.1080
R Q L S L C S V K L D A D P S V P D V V p.360
. . | 07 . . . . g.24965
ATAGATATTCTGCAACAAATTGAG | GCTTTGGAATCTCTCCTGGAAAAGAAACTGTCACCA c.1140
I D I L Q Q I E | A L E S L L E K K L S P p.380
. . . . . . g.25025
AAAAAGGTGAAAAAATGTTTCAGTGAAATTCGGAGCAGATTTCCTATCGGTAGCCAAAAG c.1200
K K V K K C F S E I R S R F P I G S Q K p.400
. . . . . . g.25085
GCCTTGGAGAGATGGCCAAGTACATCACCAAAGGGTGAGAGGAGGCCCCTCACAGCAAAG c.1260
A L E R W P S T S P K G E R R P L T A K p.420
. . . . . | 08 . g.33784
GACACATTCCCACAGGAAACAAGTCGACCTTCTGTAGCAAAGCAGCTTCTTGCCG | ATAAG c.1320
D T F P Q E T S R P S V A K Q L L A D | K p.440
. . . . . . g.33844
TATCAGCCCGATACGGAGCTTCCGGAGACCCAGAGGTTGCAGAGTGAGCTTGATGTATTA c.1380
Y Q P D T E L P E T Q R L Q S E L D V L p.460
. . . . . . g.33904
GATGCGGATATAGTTCTGGAAGAAGGACCATTTATTCTAGACCAAAGTGCAAGCTTCAAA c.1440
D A D I V L E E G P F I L D Q S A S F K p.480
. . . . . . g.33964
GACGAGGTGTTAGCCGTGGCAAAAACAAAAGCAGGGAAAAAGAAGCCTGTGACTGAGAAT c.1500
D E V L A V A K T K A G K K K P V T E N p.500
. . . . | 09 . . g.35782
GTGCCGTTTAGGAAGAAAGATACTCTGGCGCCAGCAAGACAGCAA | GGACTCCGCAAAGCT c.1560
V P F R K K D T L A P A R Q Q | G L R K A p.520
. . . . . . g.35842
GAAAGAGGTAGACAAAGCCAACCTCACAGTAAAAGCAGAGTGCAGCAGACAACAGTTTCA c.1620
E R G R Q S Q P H S K S R V Q Q T T V S p.540
. . . . . . g.35902
TCCAGATTAAAAATGAACCGGCAGCCTGTGAAAGACCGCAAGGCACCATGGATACCCCCA c.1680
S R L K M N R Q P V K D R K A P W I P P p.560
. . . | 10 . . . g.37491
AACCCCACATCCCCACCAGCGTCTCCTAAATG | TGCTGCATGGCTAAAGGTGAAAACTAGC c.1740
N P T S P P A S P K C | A A W L K V K T S p.580
. . . . . . g.37551
CCCAGAGATGCCACAAAAGAGCCTCTCCAGCAAGAAGATCCTCAAGAGGAAAGTCACCTG c.1800
P R D A T K E P L Q Q E D P Q E E S H L p.600
. . | 11 . . . g.38688
ACAGGTGCTGTTGAGCATGAAGCAGCCAG | GCTCGCTTGGCTTGATGCTGAAACTTCCAAA c.1860
T G A V E H E A A R | L A W L D A E T S K p.620
. . . . . | 12 g.38966
AGATTGAAGGAACTAGAAGAGTTAAAAGCCAAGGAAATTGACAGCATGCAAAAACAGAG | G c.1920
R L K E L E E L K A K E I D S M Q K Q R | p.640
. . . . . . g.39026
CTTGATTGGCTTGATGCTGAAACTTCTAGAAGAACAAAGGAACTGAATGAGCTCAAAGCT c.1980
L D W L D A E T S R R T K E L N E L K A p.660
. . | 13 . . . g.45500
GAAGAAATGTATAGACTCCAACAATTGAG | TGTTTCTGCCACCCACTTAGCAGACAAGGTA c.2040
E E M Y R L Q Q L S | V S A T H L A D K V p.680
. . . . | 14 . g.46619
GAGGAGGCAGTTCTGGATCGTTTGAAGCCTCTCTTGGTCAAGGCCCAG | AGAGTCAATTCT c.2100
E E A V L D R L K P L L V K A Q | R V N S p.700
. . . . . . g.46679
ACTACAGAAGCAAATATTCATTTGAAAGATGGCTCGTCAGTAAACACAGCGAAAGCCCAG c.2160
T T E A N I H L K D G S S V N T A K A Q p.720
. | 15 . . . . . g.49632
CCTGCACAGGAG | GTTGCAGCTGTTGATTTTGAATCCAACAACATTCGTCAGCTTGATGAT c.2220
P A Q E | V A A V D F E S N N I R Q L D D p.740
. . . . . . g.49692
TTTTTGGAAGATTGTGCCAGTGAGCTCTGGGCTGTGACTCATGCTAAGATCTTGGGGTCT c.2280
F L E D C A S E L W A V T H A K I L G S p.760
. . . . . . g.49752
GAAACCTTAGCCACCGTTGAGGACAGCAAGGATAGCCCAGATCTGGAGATCATGATGCGC c.2340
E T L A T V E D S K D S P D L E I M M R p.780
. | 16 . . . . g.50916
CGAATGGAAGAGATGGAA | AAATACCAGGAGTCTGTTCGTCAAAGATATAATAAAATCGCA c.2400
R M E E M E | K Y Q E S V R Q R Y N K I A p.800
. . . . | 17 . . g.55317
TATGCTGATCCTCGACTTTGGATGCAGGAAGAAAACAATG | ACCAAAAAATCTCAGCAATA c.2460
Y A D P R L W M Q E E N N D | Q K I S A I p.820
. . . . . . g.55377
AGTGAAAAGCCTCTATCTCCTCATCCAATCAGAATCACGAAGACAGTGGATCGCAAGGAT c.2520
S E K P L S P H P I R I T K T V D R K D p.840
. . . . | 18 . . g.55943
CCAGCCGTGAACATCATGTTAGAAAGGCCCTGTAATGGCAA | TTCCCTGGATGAAAGTGTG c.2580
P A V N I M L E R P C N G N | S L D E S V p.860
. . . . . . g.56003
GGAACAGAGGAAGGATCAGAGAAAAGAGAGGCCCCTCTTCTCTCCCTAGCCGAAGATTCT c.2640
G T E E G S E K R E A P L L S L A E D S p.880
. . . . . . g.56063
CAACAGAAAGAAGGCCGAGCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGGT c.2700
Q Q K E G R A P L F V P P G M Q H S I G p.900
. . . . . . g.56123
GACTACTGTAGTCGTTTTGAGCAGTACCTTCGGATCATATCTCATGAGGCTGTAGGCTCC c.2760
D Y C S R F E Q Y L R I I S H E A V G S p.920
. . | 19 . . . . g.66097
TTCAACCCGTGGCTGATAGCTGAAAG | CTTTTCAGAAGAGCTGGTAGATGAAGCTCTGGGT c.2820
F N P W L I A E S | F S E E L V D E A L G p.940
. . . . . . g.66157
GCTGTGGCTGCTGAACTTCAGGATATGTGCGAAGATTATGCAGAAGCTGTGTTCACCTCA c.2880
A V A A E L Q D M C E D Y A E A V F T S p.960
. . g.66181
GAATTCTTAGAGGCTGCTACATAA c.2904
E F L E A A T X p.967
. . . . . . g.66241
aggctctctgaggcgaggccatttgtgtcacactggagaagggatggcaccaccctttgt c.*60
. . . . . . g.66301
tttggcccacaggaaattttcatcctcagctgtccatccaggcccagaaggtgctgccca c.*120
. . . . . . g.66361
ctgaaaggaaggcagtgccggggaggtcatcctcactttgcattttcttttgtcatggca c.*180
. . . . . . g.66421
atggttctggaaatgtatgatgcaatgtatcacacttatcagtgcccaggcaacacaact c.*240
. . . . . . g.66481
tgattatggcaatattttcagaatgtgtacttttcctattgaaataccatgttcattcct c.*300
. . . . . . g.66541
ctggctcagtttggtgatgaaaatgttttgaaagataatcgatacgtatatttcacacaa c.*360
. . . . . . g.66601
ggattcaggttgctgttgaacccttgctggcattgataccaacacaagtgcggctactag c.*420
. . . . . . g.66661
ctggtcccatcacggggcccctgttttgcatctttggcgatttcctgtcaggacctctgg c.*480
. . . . . . g.66721
ccctactaggctgtagactcagggagagcacagtctggctgtgctgccaaacctctcctc c.*540
. . . . . . g.66781
tgctgcagtttattccaaacaggagccccctggctgtcagtgcacaataatagacacaca c.*600
. . . . . . g.66841
tttcttcaacgttccattcctaggtgattttcacatttttagttcctcagcatattttat c.*660
. . . . . . g.66901
tgctgtgtgttgacacaatctggtataaaaaactttctctggattcagaggaagtttgag c.*720
. . . . . . g.66961
gaatcaggagaggaccaggccttctcctgtgcctgggtgaaggtacagacctcgctgtgt c.*780
. . . . . . g.67021
ctccgatgaggtcagaagtgtctctatttcataccacaaaggaacccaagtgggagtagg c.*840
. . . . . . g.67081
gaacagatggatggcgcgaagacctctgtgtctccccagagaaaggaagaaacttaagaa c.*900
. . . . . . g.67141
ccatcatagcctggtcctccaacatcttacagatcatgttttccaagagaaaagcctgtg c.*960
. . . . . . g.67201
ttttcagaaactctgaattcagaaaaagaaacggaatgtgcgtaagaatcaggccactgc c.*1020
. . . . . . g.67261
ctggaaagactttctctcaattcgtagcctgaggctcagtgaaggaaacatgcagaaaga c.*1080
. . . . . . g.67321
atgcctgagacgcccccagggaataagggaactctttataacctgtccagtgccgtcatc c.*1140
. . . . . . g.67381
tgggatttttctctgaagtacaagaatttcaggtgatttaagctgcttgatcacacttat c.*1200
. . . . . . g.67441
ttgtgcaaaattgattttcatttaatgttaatgttttcctgcttaattttatataacttc c.*1260
. . . . . . g.67501
agaatgtaaagagcttcaaggtaaattacagggtgtttaacctggggagttaaatgtgta c.*1320
. . . . . . g.67561
cacttgaattaataggagcaccggttgttgctagtataaagtaatttgtgtggcagtttg c.*1380
. . . . g.67603
tactgtgctgagtttttaaaataaacccaatattttaaagta c.*1422
(downstream sequence)
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