(used for variant description)
(last modified November 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014687.1 in the KIAA0226 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering KIAA0226 transcript NM_014687.1.
(upstream sequence)
g.17798
ggc c.-181
. . . . . . g.17858
cgggatagaagccgcagcccaggcggcggtccctcccgctgtcgccgcccgggtgtagcg c.-121
. . . . . . g.17918
catcacccggagcccaccggccgcaggtgcctcctccggccccagggggccccgggagcc c.-61
. . . . . . g.17978
ctgaagggcgaagcggcagggacgcctctcttgggcgaagaggcggcctcaccgccccgg c.-1
. . . . . . g.18038
ATGCGGCCGGAGGGCGCGGGAATGGAGCTCGGAGGCGGCGAGGAGCGCCTGCCTGAGGAG c.60
M R P E G A G M E L G G G E E R L P E E p.20
| 02 . . . . . . g.36622
AGCAG | GAGGGAGCACTGGCAGTTGCTGGGTAATTTGAAGACGACGGTGGAGGGTTTGGTA c.120
S R | R E H W Q L L G N L K T T V E G L V p.40
. . . . . . g.36682
TCAACCAACAGCCCCAACGTCTGGTCTAAGTATGGTGGCTTGGAGCGGCTTTGCAGGGAC c.180
S T N S P N V W S K Y G G L E R L C R D p.60
. . . | 03 . . g.49543
ATGCAGAGCATCCTCTATCACGGGCTTATCCGTGACCAG | GCGTGCCGCCGCCAGACGGAT c.240
M Q S I L Y H G L I R D Q | A C R R Q T D p.80
. . . . . . g.49603
TACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAG c.300
Y W Q F V K D I R W L S P H S A L H V E p.100
| 04 . . . . . . g.50053
AAG | TTCATCAGCGTGCACGAGAACGACCAGAGCAGTGCTGATGGTGCCAGTGAACGTGCT c.360
K | F I S V H E N D Q S S A D G A S E R A p.120
. . . . . . g.50113
GTTGCCGAGCTGTGGCTGCAGCACAGCCTGCAGTACCACTGCCTCTCAGCCCAGCTCCGG c.420
V A E L W L Q H S L Q Y H C L S A Q L R p.140
. . . . | 05 . . g.51060
CCCCTGCTCGGGGATAGACAGTATATCAGAAAATTCTACACAG | ATGCTGCCTTCCTGCTA c.480
P L L G D R Q Y I R K F Y T D | A A F L L p.160
. . . . . . g.51120
AGTGACGCTCATGTCACGGCCATGCTGCAGTGCCTGGAAGCAGTGGAACAGAACAACCCC c.540
S D A H V T A M L Q C L E A V E Q N N P p.180
. . . | 06 . . . g.52863
CGCCTCCTGGCTCAGATCGATGCGTCCATG | TTTGCCAGAAAGCACGAGAGCCCGCTCCTG c.600
R L L A Q I D A S M | F A R K H E S P L L p.200
. . . . . . g.52923
GTGACAAAGAGCCAGAGCCTGACAGCCCTGCCCAGTTCCACATACACCCCTCCAAACAGC c.660
V T K S Q S L T A L P S S T Y T P P N S p.220
. . . . . . g.52983
TATGCTCAGCATTCCTACTTTGGGTCCTTCTCTAGCCTCCACCAATCCGTGCCCAACAAT c.720
Y A Q H S Y F G S F S S L H Q S V P N N p.240
| 07. . . . . . g.53604
GGCTCAG | AGAGAAGATCTACTTCCTTTCCACTCTCTGGCCCTCCCCGGAAACCTCAAGAA c.780
G S E | R R S T S F P L S G P P R K P Q E p.260
. . . . . . g.53664
AGCAGAGGGCACGTCTCACCAGCAGAGGATCAAACCATCCAAGCCCCCCCAGTTTCAGTC c.840
S R G H V S P A E D Q T I Q A P P V S V p.280
. . . . . . g.53724
TCTGCACTAGCCAGGGATTCCCCTTTGACCCCAAATGAAATGAGCTCCAGTACTCTGACC c.900
S A L A R D S P L T P N E M S S S T L T p.300
. . . . . . g.53784
AGCCCCATAGAGGCATCCTGGGTCAGCAGCCAGAATGATTCCCCAGGTGATGCCAGTGAG c.960
S P I E A S W V S S Q N D S P G D A S E p.320
. . . . . . g.53844
GGGCCTGAGTACCTGGCCATTGGCAACTTGGACCCCCGAGGCCGGACTGCCAGCTGTCAG c.1020
G P E Y L A I G N L D P R G R T A S C Q p.340
. . . . . . g.53904
AGTCACAGCAGCAATGCCGAGAGCAGCAGTTCCAATTTGTTCTCCTCCAGCAGCTCCCAG c.1080
S H S S N A E S S S S N L F S S S S S Q p.360
. . . . . . g.53964
AAGCCAGATTCTGCTGCCTCTTCCTTAGGGGACCAGGAAGGAGGTGGGGAGAGCCAGCTG c.1140
K P D S A A S S L G D Q E G G G E S Q L p.380
. . . . . . g.54024
TCCAGTGTCCTCCGCAGGTCCAGCTTCTCAGAGGGGCAGACACTCACTGTCACCAGTGGG c.1200
S S V L R R S S F S E G Q T L T V T S G p.400
. . . . . . g.54084
GCAAAGAAAAGCCACATTCGCTCCCATTCGGATACCAGCATTGCCTCCAGGGGAGCTCCA c.1260
A K K S H I R S H S D T S I A S R G A P p.420
| 08 . . . . . . g.57707
G | AATCCTGCAATGATAAGGCGAAGTTGAGAGGCCCTTTGCCCTACTCTGGTCAAAGCAGT c.1320
E | S C N D K A K L R G P L P Y S G Q S S p.440
. . . | 09. . . g.58739
GAAGTCAGCACACCCAGCTCTCTGTACATGGAATATG | AAGGTGGTCGGTACCTGTGCTCA c.1380
E V S T P S S L Y M E Y E | G G R Y L C S p.460
. . . . . . g.58799
GGGGAAGGCATGTTCCGAAGACCATCAGAAGGACAGTCCCTCATCAGCTACCTCTCTGAG c.1440
G E G M F R R P S E G Q S L I S Y L S E p.480
. . . | 10 . . . g.60139
CAAGACTTCGGCAGCTGTGCCGACCTGGAAAAG | GAGAATGCCCACTTCAGCATCTCAGAG c.1500
Q D F G S C A D L E K | E N A H F S I S E p.500
. . . . . . g.60199
TCCTTAATTGCTGCCATCGAGCTAATGAAGTGCAACATGATGAGCCAGTGCCTAGAGGAG c.1560
S L I A A I E L M K C N M M S Q C L E E p.520
. . . . . . g.60259
GAGGAAGTGGAAGAGGAAGACAGTGATAGAGAGATCCAGGAGCTGAAGCAGAAGATCCGC c.1620
E E V E E E D S D R E I Q E L K Q K I R p.540
. . . . . . g.60319
CTTCGGCGCCAGCAAATCCGCACCAAGAACCTGCTCCCCATGTACCAGGAGGCTGAGCAC c.1680
L R R Q Q I R T K N L L P M Y Q E A E H p.560
| 11 . . . . . . g.60937
GGAA | GCTTTCGGGTCACCTCCAGCAGCTCCCAGTTCAGCTCACGTGATTCGGCACAGCTC c.1740
G S | F R V T S S S S Q F S S R D S A Q L p.580
. . . . | 12 . . g.70494
TCTGACTCTGGCTCTGCTGATGAGGTTGATGAATTTGAAATCCAAG | ATGCTGACATCAGA c.1800
S D S G S A D E V D E F E I Q D | A D I R p.600
. . . . | 13. . g.71271
AGGAACACAGCCTCAAGCAGCAAATCCTTCGTTTCCTCCCAGTCCTT | CTCCCACTGCTTC c.1860
R N T A S S S K S F V S S Q S F | S H C F p.620
. . . . . . g.71331
CTGCACTCCACGTCTGCTGAGGCGGTGGCCATGGGGCTCCTGAAGCAGTTTGAGGGGATG c.1920
L H S T S A E A V A M G L L K Q F E G M p.640
. . . . . . g.71391
CAGCTTCCAGCCGCCTCGGAGCTGGAGTGGCTTGTCCCGGAGCATGATGCCCCTCAGAAG c.1980
Q L P A A S E L E W L V P E H D A P Q K p.660
| 14 . . . . . . g.72142
| CTCCTGCCCATTCCTGACTCACTGCCCATCTCACCGGATGACGGGCAGCACGCTGACATC c.2040
| L L P I P D S L P I S P D D G Q H A D I p.680
. . . . . . g.72202
TACAAGCTGCGGATTCGTGTTCGTGGCAACTTGGAGTGGGCCCCGCCCCGGCCTCAGATA c.2100
Y K L R I R V R G N L E W A P P R P Q I p.700
. . | 15 . . . . g.72832
ATTTTTAATGTTCATCCAGCCCCAAC | GAGGAAAATTGCCGTGGCCAAGCAGAATTACCGC c.2160
I F N V H P A P T | R K I A V A K Q N Y R p.720
. . . | 16 . . . g.73359
TGTGCAGGATGTGGCATCCGGACTGACCCTG | ATTACATCAAGCGACTGCGGTACTGTGAG c.2220
C A G C G I R T D P D | Y I K R L R Y C E p.740
. . . . . . g.73419
TACCTGGGCAAGTACTTCTGCCAGTGCTGCCACGAGAATGCCCAGATGGCCATCCCCAGC c.2280
Y L G K Y F C Q C C H E N A Q M A I P S p.760
. . . . . . g.73479
CGGGTTCTGCGCAAGTGGGACTTCAGCAAGTACTACGTCAGCAACTTCTCCAAGGACCTG c.2340
R V L R K W D F S K Y Y V S N F S K D L p.780
. . . . . . g.73539
CTCATTAAGATCTGGAATGATCCTCTCTTCAACGTGCAGGACATAAACAGTGCCCTCTAT c.2400
L I K I W N D P L F N V Q D I N S A L Y p.800
. . . | 17 . . . g.77186
AGGAAGGTCAAGCTGCTCAATCAAGTCCGG | CTGCTGCGGGTCCAGCTGTGTCACATGAAG c.2460
R K V K L L N Q V R | L L R V Q L C H M K p.820
. . . | 18 . . . g.77687
AACATGTTCAAGACTTGCCGACTGGCCAAGGA | GCTTCTGGATTCCTTTGACACAGTCCCA c.2520
N M F K T C R L A K E | L L D S F D T V P p.840
. . . . . . g.77747
GGCCACCTGACAGAGGACCTCCACCTGTACTCACTGAATGACCTGACTGCGACCAGGAAG c.2580
G H L T E D L H L Y S L N D L T A T R K p.860
. . . . . . g.77807
GGGGAGCTGGGGCCCCGGCTTGCTGAGCTCACCAGGGCAGGGGCTACCCATGTGGAGAGA c.2640
G E L G P R L A E L T R A G A T H V E R p.880
| 19 . . . . . . g.79236
TGCATG | CTCTGCCAAGCCAAAGGCTTCATCTGTGAGTTCTGTCAGAATGAGGATGACATC c.2700
C M | L C Q A K G F I C E F C Q N E D D I p.900
. . . . | 20 . . g.79521
ATCTTTCCCTTTGAGCTCCATAAGTGCCGGACCTGTGAAG | AGTGTAAAGCGTGTTACCAT c.2760
I F P F E L H K C R T C E E | C K A C Y H p.920
. . . . . . g.79581
AAAGCCTGCTTCAAGTCTGGAAGCTGTCCGCGCTGCGAGCGGCTGCAGGCCCGGCGGGAG c.2820
K A C F K S G S C P R C E R L Q A R R E p.940
. . . . . . g.79641
GCACTGGCCAGGCAGAGCCTGGAGTCTTACCTGTCAGACTACGAGGAGGAGCCCGCGGAA c.2880
A L A R Q S L E S Y L S D Y E E E P A E p.960
. . . g.79680
GCGCTGGCCCTGGAAGCCGCCGTCCTGGAGGCCACCTGA c.2919
A L A L E A A V L E A T X p.972
. . . . . . g.79740
agaaagcacgtgcagccctccctccgggccgggtcacacctgttgcagaactgagccact c.*60
. . . . . . g.79800
ctttgaaggactcgccccacctggggcttctttttttttttttttttttaattatcatca c.*120
. . . . . . g.79860
tctttttttttttttttactgacttgtctgacgtctgtgtgcagtcagccgtcggcaggt c.*180
. . . . . . g.79920
tgatgggtccagagtctgtggtgacagataatttgtaaacaccaggtgtttccatcagaa c.*240
. . . . . . g.79980
ctgacatgcgggtccttcagtgaagcttctagtgcctctgtcagtggaagagacagcaag c.*300
. . . . . . g.80040
accaagttcttccagcgtctgtggccttctcctctaggtttcacctgcatgtcaggtatc c.*360
. . . . . . g.80100
atttccaattttcctttgtttcagttctggagcttctgagccaggcctttctcaaccacc c.*420
. . . . . . g.80160
tctcctgctgctgaaacggggatggcgttttccctctccctgtcctggactggggtcaga c.*480
. . . . . . g.80220
ctgtgccccgaggagaagcagcagagaataggactacgtcatgggcatttcgtccactta c.*540
. . . . . . g.80280
tttgggtattttgggggccacagaacaatcctgactatcctagactcctcagagacctca c.*600
. . . . . . g.80340
gaggcagctgtgaatgtccctatgttgccgggagttcctgtttgaaatatttgaagcata c.*660
. . . . . . g.80400
gaggatgccacaagctgactttcttcatctaccttggtgatcttgaagcaaagaacagaa c.*720
. . . . . . g.80460
ctgatgctcaggccaggctcacctgtagccttacgccgcaagcatacgtgaggcgccagc c.*780
. . . . . . g.80520
tctgtcgctgaaggagcgcttactcagaggagcggtcggccccctcttggtgttaaggtc c.*840
. . . . . . g.80580
tcttagttaacctggctttttggtgcaggtgtgatctttgaagctcaggcaggtccctga c.*900
. . . . . . g.80640
tgccatcctaaggtgaggacaggaacctcacccaccatcttcttagcgtgtccctgatga c.*960
. . . . . . g.80700
ctctgtcctctgttagatggtcgttgtgcttctgagtaaaagtacaacccgactccgttc c.*1020
. . . . . . g.80760
tctccccttcctgcagcagagctgggtccttccctggtggccgagtctctcttgccttag c.*1080
. . . . . . g.80820
cttctttggtcaaagttggagaaaagcttcctgctattagtgctgttacagaacttgacg c.*1140
. . . . . . g.80880
gtttgtggatgtgagtgtgaatgtccctgtgttcttgggataacaagagcctttatgcca c.*1200
. . . . . . g.80940
attatgcacttaactctgtgtagcctggtaatgtttatctgttcatttgataatgctgat c.*1260
. . . . . . g.81000
tttagtgtgctgcccccctccccccgttaatgtgtgttgatggtgaagtccttttgataa c.*1320
. . . . . . g.81060
tgctgattttggtgtgctgcctcccccttcccccccgttaatgtgtgtgttgacagtgaa c.*1380
. . . . . . g.81120
gtccttgggtggggccatgtgtgtgtttgtgatgttccttaagttgatgcagcttctaac c.*1440
. . . . . . g.81180
ctctgtgaaaacactggtcagagtggcttctccaagagctggcagctctgtgaactaaag c.*1500
. . . . . . g.81240
cctgcatcatttttgttctgggattgaattctgcccatgggcatgtcttctcatagttgc c.*1560
. . . . . . g.81300
ttgctggtaggaaagaaatgggcgtgggtgctgccctggaagctgagcggaaagttgcct c.*1620
. . . . . . g.81360
gtggttggtggaagctgatgagagcttgagctggcggtaagaaggagtctcccagggaag c.*1680
. . . . . . g.81420
tgggagaggcattaaggtgatggccagggctgaggctccaccagcgtgagagggaacatg c.*1740
. . . . . . g.81480
tgggaactggcccctgcccttgattcctctgcctcaaagttgggatctgaaagccatgta c.*1800
. . . . . . g.81540
gggctagaagaccctgaggctgttctcccttctgttcatagtgagactcaaaaagccaag c.*1860
. . . . . . g.81600
tcccagaagttctgaagggctgtgactagaagtgcccaggtccttcagggagctttaaga c.*1920
. . . . . . g.81660
atgaccccacagaactcaagtttaactaggggttaggtcccagattcagacccaggagtt c.*1980
. . . . . . g.81720
tataaaaatgagctctacttccagttttggtttaaattacacatccaggccaggcacagt c.*2040
. . . . . . g.81780
ggctcacacctgtaatcccagcactttgggaggccagtgcgggcggatcatgaggtcagg c.*2100
. . . . . . g.81840
agtttgagaccagcctggccaatgtggtgaaaccctgtctcttccaaaaatacaaaaatt c.*2160
. . . . . . g.81900
agctgggcgtggtggcacacgcctgtaatcccagctacttgggaggctgaggcaggagaa c.*2220
. . . . . . g.81960
tcgcttgaacctgggaggcagaggttgcagtgagccgagattgcgccaccgcactccagc c.*2280
. . . . . . g.82020
ctgggtgacagagtgagactccgtctcaaaaaacaaaaaggtgacacatccagctctttc c.*2340
. . . . . . g.82080
tccaggtcactgcgctggaggacagatgtgccgtcttgtcctgcctgtttcacatcagca c.*2400
. . . . . . g.82140
taggatcaaaggatgacaatgctgacagcttctgaagccgaactcaacagtctcataggc c.*2460
. . . . . . g.82200
tcctcacttgtcacttatttttccctagctccctcaaccgcaccccatccctttagatcg c.*2520
. . . . . . g.82260
tgcgtctgttttagtgactctgacacgatgccgtcctcaccttccaaatacccagttatt c.*2580
. . . . . . g.82320
tattcaagaggggggaagtgggtagaggatgggatgttttggaagcactttgcaagttac c.*2640
. . . . . . g.82380
cactatctgaaaatcccctgctgttgcggggagaagctttgaatgcactgaagagaattc c.*2700
. . . . . . g.82440
cttctaaatgaaggcaggtgatagtgttctttctgtaagtaaagggaaagaaaaaaaaca c.*2760
. . . . . . g.82500
tagtttgcttaccaggtggagacaagattcaagacatagcagaagagtggaagacaaata c.*2820
. . . . . . g.82560
ttttccacttaaatgaggctgtttttgacgttctctgccaaggatttagagctttcgttg c.*2880
. . . . . . g.82620
aactaacataaaaggagtgcgagtcttagtagagatgttccgtgtgtgccgcccgtgctc c.*2940
. . . . . . g.82680
tgaactgcgtttccacctgctgtggtgcttgtgcagcctggcagttcattgtcatcttta c.*3000
. . . . . . g.82740
ataaactaaggaaataaaattctgtctttcgtcagcctgccttgactgtcaagaaatggc c.*3060
. . . . . . g.82800
atgtgtccactgtaaagcaggtatatctgaacattgagaaggtttctgtgttataatgta c.*3120
. . . . . . g.82860
aagcaaactggaccacacacatcaaggaaagtgaggtggagtggctgtgtctctaacttg c.*3180
. . . . . . g.82920
ccatgagacctcgagcgaaccacttcacttctctgggtttctggtgcatggtgtaactgt c.*3240
. . . . . . g.82980
cacttaaaatgaggtgtcttcctctccgcaacatctgacttgccttagatgcttcagttc c.*3300
. . . . . . g.83040
ccacttctgtgagcagctagcatctttctcttctgctcctggcccactggagctccagct c.*3360
. . . . . . g.83100
ctacgctgcaactctctcaacatttccccttaaatgtccccttgtcatctccaaccagtg c.*3420
. . . . . . g.83160
tgtctaaaaccagcataaattccgtatttccaaaaacctaaccattagtcacccaggttt c.*3480
. . . . . . g.83220
gaaaattaattgtcttcaacttcctctgtaagtggcacactgagctcatcacgcatcgtc c.*3540
. . . . . . g.83280
tcattcctactccctgtcatcaagttctgtggatgttttcctctaaaataaatctctcat c.*3600
. . . g.83310
tacttttctgccactagcacacaaattcag c.*3630
(downstream sequence)
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