(used for variant description)
(last modified December 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_014846.3 in the KIAA0196 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012636.1, covering KIAA0196 transcript NM_014846.3.
(upstream sequence)
. . g.5029
acatgatgcccctccctgctcccagccgc c.-301
. . . . . . g.5089
ttcggtcatgtgaccgcctggggagtcaggggcggaagtcggggtctgacccgctccagg c.-241
. . . . . . g.5149
tccgggactgcggatagaagaggaccgccgccttgagggaggggtggaaactgggtgccg c.-181
. . . . . . | 02 g.12801
gctccgcgcgcgacctccggccctgcgcgtgcgccgtggcgcggcccggctgacag | gttc c.-121
. . . . . . g.12861
tttaatggaggagccaatctctctgcacacctggtttcatctaataatatacagacacca c.-61
. . . . . . g.12921
gctctgaggccagttaatcatccccagtgtccaggcacagagtagtcggtccgcctcaca c.-1
. . . . . . g.12981
ATGTTGGACTTTCTAGCCGAGAACAACCTCTGTGGCCAAGCAATCCTAAGGATTGTTTCC c.60
M L D F L A E N N L C G Q A I L R I V S p.20
. . . . . . g.13041
TGTGGTAATGCCATCATTGCTGAACTTTTGAGACTCTCTGAGTTTATTCCTGCTGTGTTC c.120
C G N A I I A E L L R L S E F I P A V F p.40
. . . . . . g.13101
AGGTTAAAAGACAGAGCTGATCAACAGAAATATGGAGATATCATATTTGATTTCAGCTAT c.180
R L K D R A D Q Q K Y G D I I F D F S Y p.60
| 03 . . . . . . g.13615
TTTAAG | GGTCCAGAATTATGGGAAAGCAAACTGGATGCTAAGCCAGAGCTACAGGATTTA c.240
F K | G P E L W E S K L D A K P E L Q D L p.80
. . . . . . g.13675
GATGAAGAATTTCGTGAAAACAACATAGAAATTGTGACCAGATTTTATTTAGCATTTCAA c.300
D E E F R E N N I E I V T R F Y L A F Q p.100
. . . | 04 . . . g.14380
AGTGTACATAAATATATTGTAGACTTAAACAG | ATATCTAGATGATCTCAATGAAGGGGTT c.360
S V H K Y I V D L N R | Y L D D L N E G V p.120
. . . . . | 05. g.15061
TATATTCAGCAAACCTTAGAAACTGTGCTTCTCAATGAAGATGGAAAACAACTTCTA | TGT c.420
Y I Q Q T L E T V L L N E D G K Q L L | C p.140
. . . . . . g.15121
GAAGCACTGTACTTATATGGAGTTATGCTACTGGTCATTGACCAAAAGATTGAAGGAGAA c.480
E A L Y L Y G V M L L V I D Q K I E G E p.160
. . . | 06 . . g.17911
GTCAGAGAGAGGATGCTGGTTTCTTACTACCGATACAG | TGCTGCTCGATCTTCTGCTGAT c.540
V R E R M L V S Y Y R Y S | A A R S S A D p.180
. . . . . . g.17971
TCAAATATGGACGATATTTGTAAGCTGCTTCGAAGTACAGGTTATTCTAGCCAACCAGGT c.600
S N M D D I C K L L R S T G Y S S Q P G p.200
. . . . . . g.18031
GCCAAAAGACCATCCAACTATCCCGAGAGCTATTTCCAGAGAGTGCCTATCAACGAATCC c.660
A K R P S N Y P E S Y F Q R V P I N E S p.220
. . . . . | 07 . g.20328
TTCATCAGTATGGTCATTGGTCGACTGAGATCTGATGATATTTACAACCAG | GTCTCAGCG c.720
F I S M V I G R L R S D D I Y N Q | V S A p.240
. . . . . . g.20388
TATCCTTTGCCGGAGCATCGCAGCACAGCCCTGGCAAACCAAGCTGCCATGCTGTACGTG c.780
Y P L P E H R S T A L A N Q A A M L Y V p.260
. . . . . . g.20448
ATTCTCTACTTTGAGCCTTCCATCCTTCACACCCATCAAGCAAAAATGAGAGAGATAGTG c.840
I L Y F E P S I L H T H Q A K M R E I V p.280
. . | 08 . . . . g.21744
GATAAATACTTTCCAGATAATTGG | GTAATTAGTATTTACATGGGGATCACAGTTAATCTA c.900
D K Y F P D N W | V I S I Y M G I T V N L p.300
. . . . . . g.21804
GTAGATGCTTGGGAACCTTACAAAGCTGCAAAAACTGCTTTAAATAATACCCTGGACCTT c.960
V D A W E P Y K A A K T A L N N T L D L p.320
. | 09 . . . . g.23537
TCAAATGTCAGAGAACAG | GCAAGCAGATATGCTACTGTCAGTGAAAGAGTGCATGCTCAA c.1020
S N V R E Q | A S R Y A T V S E R V H A Q p.340
. . . . . . g.23597
GTGCAGCAATTTCTAAAAGAAGGTTATTTAAGGGAGGAGATGGTTCTGGACAATATCCCA c.1080
V Q Q F L K E G Y L R E E M V L D N I P p.360
. . . . . . g.23657
AAGCTTCTGAACTGCCTGAGAGACTGCAATGTTGCCATCCGATGGCTGATGCTTCATACA c.1140
K L L N C L R D C N V A I R W L M L H T p.380
. | 10 . . . . . g.29150
GCAGACTCAG | CCTGTGACCCAAACAACAAACGCCTTCGTCAAATCAAGGACCAGATTCTA c.1200
A D S A | C D P N N K R L R Q I K D Q I L p.400
. . . . . . g.29210
ACAGACTCTCGGTACAATCCCAGGATCCTCTTCCAGCTGCTGTTAGATACTGCACAATTT c.1260
T D S R Y N P R I L F Q L L L D T A Q F p.420
. | 11 . . . . g.33210
GAGTTTATACTCAAAGAG | ATGTTCAAGCAAATGCTTTCAGAAAAGCAAACCAAATGGGAG c.1320
E F I L K E | M F K Q M L S E K Q T K W E p.440
. . . . . . g.33270
CATTACAAGAAAGAGGGTTCGGAGCGGATGACTGAGCTTGCTGATGTCTTTTCAGGAGTG c.1380
H Y K K E G S E R M T E L A D V F S G V p.460
. . | 12 . . . g.35657
AAACCCCTAACCAGAGTGGAGAAAAATG | AAAACCTTCAAGCTTGGTTCAGAGAGATCTCA c.1440
K P L T R V E K N E | N L Q A W F R E I S p.480
. . . . . . g.35717
AAACAAATATTGTCTTTAAATTATGATGATTCTACTGCTGCGGGCAGAAAAACTGTACAA c.1500
K Q I L S L N Y D D S T A A G R K T V Q p.500
. . | 13 . . . . g.37316
CTGATACAAGCTTTGGAAGAG | GTTCAAGAATTCCACCAGTTGGAATCCAATCTGCAAGTA c.1560
L I Q A L E E | V Q E F H Q L E S N L Q V p.520
. . . . . . g.37376
TGTCAGTTTCTTGCCGATACTCGAAAGTTTCTTCATCAAATGATCAGAACCATTAACATT c.1620
C Q F L A D T R K F L H Q M I R T I N I p.540
. . . . . . g.37436
AAAGAGGAGGTTCTGATCACAATGCAGATCGTTGGGGACCTTTCTTTCGCTTGGCAGTTG c.1680
K E E V L I T M Q I V G D L S F A W Q L p.560
| 14 . . . . . g.37574
ATTGACAG | TTTCACATCCATCATGCAAGAAAGCATAAGGGTAAATCCATCCATGGTTACT c.1740
I D S | F T S I M Q E S I R V N P S M V T p.580
. . | 15 . . . . g.39189
AAACTCAGAGCTACCTTCCTAAAG | CTTGCCTCTGCCCTCGATCTGCCCCTTCTTCGTATT c.1800
K L R A T F L K | L A S A L D L P L L R I p.600
. . . . . . g.39249
AATCAGGCAAATAGCCCCGACCTGCTCAGCGTGTCACAGTACTATTCTGGAGAGTTGGTA c.1860
N Q A N S P D L L S V S Q Y Y S G E L V p.620
. | 16 . . . . . g.40047
TCCTATGTGAGAAAA | GTTTTGCAGATCATCCCAGAAAGCATGTTTACATCTCTTCTAAAG c.1920
S Y V R K | V L Q I I P E S M F T S L L K p.640
. . . . . . g.40107
ATCATAAAGCTTCAGACCCACGACATTATTGAAGTGCCTACCCGCCTGGACAAAGACAAG c.1980
I I K L Q T H D I I E V P T R L D K D K p.660
. . . | 17 . . . g.41172
CTGAGGGACTATGCTCAGCTAGGCCCACGATACGAG | GTTGCCAAGCTTACTCATGCTATT c.2040
L R D Y A Q L G P R Y E | V A K L T H A I p.680
. . . . . | 18. g.46157
TCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAG | GTG c.2100
S I F T E G I L M M K T T L V G I I K | V p.700
. . . . . . g.46217
GATCCAAAGCAGTTGCTGGAAGATGGAATAAGGAAAGAGCTTGTGAAGCGCGTTGCCTTT c.2160
D P K Q L L E D G I R K E L V K R V A F p.720
. . . | 19 . . g.47655
GCCCTGCATAGGGGACTGATATTCAACCCTCGAGCCAAG | CCAAGTGAATTGATGCCCAAG c.2220
A L H R G L I F N P R A K | P S E L M P K p.740
. . . . . . g.47715
CTGAAAGAGTTGGGAGCGACCATGGATGGATTCCATCGTTCTTTTGAATACATACAGGAC c.2280
L K E L G A T M D G F H R S F E Y I Q D p.760
. . . . . . g.47775
TATGTCAACATTTATGGTCTGAAGATTTGGCAGGAAGAAGTATCTCGTATCATAAATTAC c.2340
Y V N I Y G L K I W Q E E V S R I I N Y p.780
. . . | 20 . . g.49509
AACGTGGAGCAAGAGTGTAATAACTTTCTAAGAACGAAG | ATTCAAGATTGGCAAAGCATG c.2400
N V E Q E C N N F L R T K | I Q D W Q S M p.800
. . . . . . g.49569
TACCAGTCCACTCATATTCCAATACCCAAGTTTACCCCTGTGGATGAGTCTGTAACGTTT c.2460
Y Q S T H I P I P K F T P V D E S V T F p.820
. . . . | 21 . . g.52137
ATTGGTCGACTCTGCAGAGAAATCCTGCGGATCACAGACCCAAA | AATGACATGTCACATA c.2520
I G R L C R E I L R I T D P K | M T C H I p.840
. . . . . . g.52197
GACCAGCTGAACACTTGGTATGATATGAAAACTCATCAGGAAGTGACCAGCAGCCGCCTC c.2580
D Q L N T W Y D M K T H Q E V T S S R L p.860
. . . . . . g.52257
TTCTCAGAAATCCAGACCACCTTGGGAACCTTTGGTCTAAATGGCTTAGACAGGCTTCTG c.2640
F S E I Q T T L G T F G L N G L D R L L p.880
. . | 22. . . . g.52758
TGCTTTATGATTGTAAAAGAGTTACAG | AATTTCCTCAGTATGTTTCAGAAAATTATCCTG c.2700
C F M I V K E L Q | N F L S M F Q K I I L p.900
. . . . . . g.52818
AGAGACAGAACTGTTCAGGACACTTTAAAAACCCTCATGAATGCTGTCAGTCCCCTAAAA c.2760
R D R T V Q D T L K T L M N A V S P L K p.920
. | 23 . . . . . g.52965
AGTATTGTCG | CAAATTCAAATAAAATTTATTTTTCCGCCATTGCCAAAACACAGAAGATT c.2820
S I V A | N S N K I Y F S A I A K T Q K I p.940
. . . | 24 . . . g.56951
TGGACTGCGTATCTCGAGGCTATAATGAAG | GTTGGGCAGATGCAGATTCTGAGACAACAG c.2880
W T A Y L E A I M K | V G Q M Q I L R Q Q p.960
. . . . . . g.57011
ATTGCCAATGAATTAAATTATTCTTGTCGGTTTGATTCTAAACATCTGGCAGCTGCTCTG c.2940
I A N E L N Y S C R F D S K H L A A A L p.980
. | 25 . . . . . g.57906
GAGAATCTCAATAA | GGCTCTCCTAGCAGACATTGAAGCCCACTATCAGGACCCTTCACTT c.3000
E N L N K | A L L A D I E A H Y Q D P S L p.1000
. . . . . . g.57966
CCTTACCCCAAAGAAGATAACACACTTTTATATGAAATCACAGCCTATCTGGAGGCAGCT c.3060
P Y P K E D N T L L Y E I T A Y L E A A p.1020
. . | 26 . . . . g.59522
GGCATTCACAACCCACTGAATAAG | ATATACATAACAACAAAGCGCTTACCCTATTTTCCA c.3120
G I H N P L N K | I Y I T T K R L P Y F P p.1040
. . . . . . g.59582
ATTGTAAACTTTCTATTTTTGATCGCTCAGTTGCCAAAACTTCAATACAACAAAAATCTG c.3180
I V N F L F L I A Q L P K L Q Y N K N L p.1060
| 27 . . . . . . g.64484
G | GAATGGTCTGCCGAAAACCGACCGACCCGGTTGATTGGCCACCACTTGTCCTGGGACTG c.3240
G | M V C R K P T D P V D W P P L V L G L p.1080
. . . . . . g.64544
CTCACTCTGCTGAAGCAGTTCCATTCCCGGTACACCGAGCAGTTCCTGGCGCTGATTGGC c.3300
L T L L K Q F H S R Y T E Q F L A L I G p.1100
. . . | 28 . . . g.68137
CAGTTTATCTGCTCCACGGTGGAGCAGTGTACAAG | CCAGAAGATACCTGAAATTCCTGCA c.3360
Q F I C S T V E Q C T S | Q K I P E I P A p.1120
. . . . . . g.68197
GATGTTGTGGGTGCCCTTCTGTTCCTGGAGGATTATGTTCGGTACACAAAGCTACCCAGG c.3420
D V V G A L L F L E D Y V R Y T K L P R p.1140
| 29 . . . . . . g.72203
AGG | GTTGCTGAAGCACATGTGCCTAATTTCATTTTTGATGAGTTCAGAACAGTGCTGTAA c.3480
R | V A E A H V P N F I F D E F R T V L X p.1159
. . . . . . g.72263
ctgtttttcctacttcttcaatggaaggattgtccttagatcttcccaccatcacaaatg c.*60
. . . . . . g.72323
aatttgaagatgaaaagaaactcagttgctcatacaactgcattttttctgtctattatg c.*120
. . . . . . g.72383
ggaaacatcagacgttctgagtaagatatatctcatggcattagttaatataactgatat c.*180
. . . . . . g.72443
tgtttaaatcatggtattacatgcaatttatatcagataaaagcagaacacatttttgta c.*240
. . . . . . g.72503
ctgcctctcttaaatgctgaatgtaactgttatgtataaatccatttagttttatgttct c.*300
. . . . . g.72560
aaagaactatttgtgcaactccagattttcagtaaaatagtattactagtacccaaa c.*357
(downstream sequence)
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