(used for variant description)
(last modified December 9, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001193466.1 in the KANSL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032784.1, covering KANSL1 transcript NM_001193466.1.
(upstream sequence)
. . . . . g.37625
tcctcctcctcctgctgccctttctccttctcctcgctctccctgtggctc c.-421
. . . . . . g.37685
ccatttctctctctctttgttagttgtaactagaaaggcagggcagggtagaaaaatccc c.-361
. . . . . . g.37745
ccggaactttaaatggcctctccgggcttccctgctgcgggtccgggctgggagtcgccc c.-301
. . . . . . g.37805
caagggcgggggtgtgcgggggcccttccccaggagctgccgcctcgttcgccagctttt c.-241
. . . . . . g.37865
cctttggcgttctatttaaaaaggcggcctgaagaacatgatttattcccgtaaaagaac c.-181
. . . . . . g.37925
cccccaaacaaactctggctctcgccttgaacttctcttgactgcaaaaggcctttctct c.-121
. . . . | 02 . . g.58171
gctcgaaacacacatcttggcgcgttgcacg | tctgttctctggggaggcagtaaggggcc c.-61
. . . . . . g.58231
gtggagctggcctcggcctcggcatcgggagaggctggacttcctgtctctctgtgctga c.-1
. . . . . . g.58291
ATGGCTGCGATGGCGCCCGCTCTCACTGACGCAGCAGCTGAAGCACACCATATCCGGTTC c.60
M A A M A P A L T D A A A E A H H I R F p.20
. . . . . . g.58351
AAACTGGCTCCCCCATCCTCTACCTTGTCCCCTGGCAGTGCCGAAAATAACGGCAACGCC c.120
K L A P P S S T L S P G S A E N N G N A p.40
. . . . . . g.58411
AACATCCTTATTGCTGCCAACGGAACCAAAAGAAAAGCCATTGCTGCAGAGGATCCCAGC c.180
N I L I A A N G T K R K A I A A E D P S p.60
. . . . . . g.58471
CTAGATTTCCGAAATAATCCTACCAAGGAAGACTTGGGAAAGCTGCAACCACTGGTGGCA c.240
L D F R N N P T K E D L G K L Q P L V A p.80
. . . . . . g.58531
TCTTATCTCTGCTCTGATGTAACATCTGTTCCCTCAAAGGAGTCTTTGAAGTTGCAAGGG c.300
S Y L C S D V T S V P S K E S L K L Q G p.100
. . . . . . g.58591
GTCTTCAGCAAGCAGACAGTCCTTAAATCTCATCCTCTCTTATCTCAGTCCTATGAACTC c.360
V F S K Q T V L K S H P L L S Q S Y E L p.120
. . . . . . g.58651
CGAGCTGAGCTGTTGGGGAGACAGCCAGTTTTGGAGTTTTCCTTAGAAAATCTTAGAACC c.420
R A E L L G R Q P V L E F S L E N L R T p.140
. . . . . . g.58711
ATGAATACGAGTGGTCAGACAGCTCTGCCACAAGCACCTGTAAATGGGTTGGCTAAGAAA c.480
M N T S G Q T A L P Q A P V N G L A K K p.160
. . . . . . g.58771
TTGACTAAAAGTTCAACACATTCTGATCATGACAATTCCACTTCCCTCAATGGGGGAAAA c.540
L T K S S T H S D H D N S T S L N G G K p.180
. . . . . . g.58831
CGGGCTCTCACTTCATCTGCTCTTCATGGGGGTGAAATGGGAGGATCTGAATCTGGGGAC c.600
R A L T S S A L H G G E M G G S E S G D p.200
. . . . . . g.58891
TTGAAGGGGGGTATGACCAATTGCACTCTTCCACATAGAAGCCTTGATGTAGAACACACA c.660
L K G G M T N C T L P H R S L D V E H T p.220
. . . . . . g.58951
ACTTTGTATAGCAATAATAGCACTGCAAACAAATCCTCTGTCAATTCCATGGAACAGCCG c.720
T L Y S N N S T A N K S S V N S M E Q P p.240
. . . . . . g.59011
GCACTTCAAGGAAGCAGTAGATTATCACCTGGTACAGACTCCAGCTCTAACTTGGGGGGT c.780
A L Q G S S R L S P G T D S S S N L G G p.260
. . . . . . g.59071
GTCAAATTGGAGGGTAAAAAGTCTCCCCTGTCTTCCATTCTTTTCAGTGCTTTAGATTCT c.840
V K L E G K K S P L S S I L F S A L D S p.280
. . . . . . g.59131
GACACAAGGATAACAGCTTTACTGCGGCGACAGGCTGACATTGAGAGCCGTGCCCGCAGA c.900
D T R I T A L L R R Q A D I E S R A R R p.300
. . . . . . g.59191
TTACAAAAGCGCTTACAGGTTGTGCAAGCCAAGCAGGTTGAGAGGCATATACAACATCAG c.960
L Q K R L Q V V Q A K Q V E R H I Q H Q p.320
. . . . . . g.59251
CTGGGTGGATTTTTGGAGAAGACTTTGAGCAAACTGCCAAACTTGGAATCCTTGAGACCA c.1020
L G G F L E K T L S K L P N L E S L R P p.340
. . . . . . g.59311
CGGAGCCAGTTGATGCTGACTCGAAAGGCTGAAGCTGCCTTGAGAAAAGCTGCCAGTGAG c.1080
R S Q L M L T R K A E A A L R K A A S E p.360
. . . . . . g.59371
ACCACCACTTCAGAGGGACTTAGCAACTTTCTGAAAAGCAATTCAATTTCAGAAGAATTG c.1140
T T T S E G L S N F L K S N S I S E E L p.380
. . . . . . g.59431
GAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCA c.1200
E R F T A S G I A N L R C S E Q A F D S p.400
. . . . . . g.59491
GATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGA c.1260
D V T D S S S G G E S D I E E E E L T R p.420
. . | 03 . . . g.135704
GCTGATCCCGAGCAGCGTCATGTACCCCT | GAGACGCAGGTCAGAATGGAAATGGGCTGCA c.1320
A D P E Q R H V P L | R R R S E W K W A A p.440
. . . . . . g.135764
GACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAA c.1380
D R A A I V S R W N W L Q A H V S D L E p.460
. . . . . | 04 . g.147841
TATCGAATTCGTCAGCAAACAGACATTTACAAACAGATACGTGCTAATAAG | GGGTTGATA c.1440
Y R I R Q Q T D I Y K Q I R A N K | G L I p.480
. . . . . . g.147901
GTTCTTGGGGAGGTACCTCCCCCAGAGCATACAACAGACTTATTTCTTCCACTTAGTTCT c.1500
V L G E V P P P E H T T D L F L P L S S p.500
. . . | 05 . . . g.162734
GAGGTGAAGACAGATCATGGGACTGATAAATTG | ATTGAGTCTGTTTCTCAGCCATTGGAA c.1560
E V K T D H G T D K L | I E S V S Q P L E p.520
. . . . . . g.162794
AACCATGGTGCCCCTATTATTGGTCATATTTCAGAGTCACTGTCTACCAAATCATGTGGA c.1620
N H G A P I I G H I S E S L S T K S C G p.540
. . . | 06 . . . g.163670
GCACTCAGACCTGTCAATGGAGTTATTAACAC | TCTTCAGCCTGTCTTGGCAGACCACATT c.1680
A L R P V N G V I N T | L Q P V L A D H I p.560
. . . . . . g.163730
CCAGGTGACAGCTCTGATGCTGAGGAACAATTACATAAGAAGCAACGACTGAATCTCGTC c.1740
P G D S S D A E E Q L H K K Q R L N L V p.580
. . . . . . g.163790
TCTTCATCATCTGATGGCACCTGTGTGGCAGCCCGGACACGTCCTGTACTGAGCTGTAAG c.1800
S S S S D G T C V A A R T R P V L S C K p.600
. . . . | 07 . g.179682
AAGCGGAGGCTTGTTCGACCCAACAGCATCGTTCCTCTTTCCAAGAAG | GTTCACCGGAAC c.1860
K R R L V R P N S I V P L S K K | V H R N p.620
. . . . . . g.179742
AGCACAATCCGCCCTGGCTGTGATGTGAATCCCTCCTGCGCACTGTGTGGTTCAGGCAGC c.1920
S T I R P G C D V N P S C A L C G S G S p.640
. . . . . . g.179802
ATCAACACCATGCCTCCCGAAATTCACTATGAAGCCCCTCTGTTGGAACGTCTTTCCCAG c.1980
I N T M P P E I H Y E A P L L E R L S Q p.660
. . . . | 08 . . g.190510
TTGGACTCTTGTGTTCATCCTGTTCTAGCATTTCCAGATG | ATGTTCCCACAAGCCTGCAT c.2040
L D S C V H P V L A F P D D | V P T S L H p.680
. . . . . . g.190570
TTCCAGAGCATGCTGAAATCTCAGTGGCAGAACAAGCCTTTTGACAAAATCAAACCTCCC c.2100
F Q S M L K S Q W Q N K P F D K I K P P p.700
. . . . . . g.190630
AAAAAGTTATCGCTTAAGCACAGAGCACCCATGCCGGGCAGTCTGCCAGATTCAGCTCGT c.2160
K K L S L K H R A P M P G S L P D S A R p.720
. . . . | 09 . . g.191176
AAGGACAGGCACAAATTGGTCAGCTCCTTCCTAACAACAGCCA | AGCTGTCCCATCACCAA c.2220
K D R H K L V S S F L T T A K | L S H H Q p.740
. . . . . . g.191236
ACCCGGCCTGACAGGACCCACAGGCAGCACTTAGACGATGTGGGGGCCGTGCCCATGGTG c.2280
T R P D R T H R Q H L D D V G A V P M V p.760
. . . . . . g.191296
GAGCGAGTGACAGCGCCAAAAGCAGAGCGCTTGCTCAACCCACCACCACCCGTGCATGAC c.2340
E R V T A P K A E R L L N P P P P V H D p.780
. . . . . | 10 . g.191696
CCAAACCACAGCAAAATGAGATTGCGAGACCATTCATCTGAGAGAAGTGAAG | TGTTGAAG c.2400
P N H S K M R L R D H S S E R S E V | L K p.800
. . . . . . g.191756
CATCACACAGACATGAGCAGTTCGAGCTACTTGGCAGCCACCCACCATCCTCCACACAGT c.2460
H H T D M S S S S Y L A A T H H P P H S p.820
. . . . . . g.191816
CCCTTGGTGCGACAGCTCTCCACCTCCTCAGATTCCCCTGCACCCGCCAGCTCTAGCTCA c.2520
P L V R Q L S T S S D S P A P A S S S S p.840
. . | 11 . . . . g.196128
CAGGTTACAGCCAGCACATCG | CAGCAGCCAGTAAGGAGGAGAAGGGGAGAGAGCTCATTT c.2580
Q V T A S T S | Q Q P V R R R R G E S S F p.860
. . . . . . g.196188
GATATTAACAACATTGTCATCCCAATGTCTGTTGCTGCAACAACTCGCGTAGAGAAACTG c.2640
D I N N I V I P M S V A A T T R V E K L p.880
. . | 12 . . . . g.196948
CAATACAAGGAAATCCTTACGCCCAG | CTGGCGGGAGGTTGATCTTCAGTCTCTGAAGGGG c.2700
Q Y K E I L T P S | W R E V D L Q S L K G p.900
. . | 13 . . . . g.197218
AGTCCTGATGAGGAGAATGAAGAG | ATTGAGGACCTATCCGACGCAGCCTTCGCCGCCCTG c.2760
S P D E E N E E | I E D L S D A A F A A L p.920
. . . . . . g.197278
CATGCCAAATGTGAGGAGATGGAGAGGGCACGGTGGCTGTGGACCACGAGTGTGCCACCC c.2820
H A K C E E M E R A R W L W T T S V P P p.940
. | 14. . . . . g.198118
CAGCGGCGGGGCAGCAG | GTCCTACAGGTCATCAGACGGCCGGACAACCCCCCAGCTGGGC c.2880
Q R R G S R | S Y R S S D G R T T P Q L G p.960
. . . . . . g.198178
AGTGCCAACCCCTCCACCCCCCAGCCTGCCTCCCCTGATGTCAGCAGTAGCCACTCTTTG c.2940
S A N P S T P Q P A S P D V S S S H S L p.980
. . . . . . g.198238
TCAGAATACTCCCATGGTCAGTCCCCTAGGAGCCCCATTAGCCCGGAACTGCACTCAGCA c.3000
S E Y S H G Q S P R S P I S P E L H S A p.1000
. . . . . . g.198298
CCCCTCACCCCTGTGGCTCGGGACACTCCGCGACACTTAGCCAGTGAGGATACCCGTTGT c.3060
P L T P V A R D T P R H L A S E D T R C p.1020
. . . | 15 . . . g.198701
TCCACACCAGAGCTGGGGCTGGATGAACAG | TCTGTCCAGCCCTGGGAGCGGCGGACCTTC c.3120
S T P E L G L D E Q | S V Q P W E R R T F p.1040
. . . . . . g.198761
CCCCTGGCGCACAGTCCCCAGGCGGAGTGTGAGGACCAGCTGGATGCACAGGAGCGAGCA c.3180
P L A H S P Q A E C E D Q L D A Q E R A p.1060
. . . . . . g.198821
GCCCGCTGCACTCGACGCACCTCAGGCAGCAAGACTGGCCGGGAGACAGAGGCAGCGCCC c.3240
A R C T R R T S G S K T G R E T E A A P p.1080
. . . . . . g.198881
ACCTCGCCTCCCATTGTCCCCCTCAAGAGTCGGCATCTGGTGGCAGCAGCCACAGCTCAG c.3300
T S P P I V P L K S R H L V A A A T A Q p.1100
. g.198899
CGCCCGACTCACAGATGA c.3318
R P T H R X p.1105
. . . . . . g.198959
gcgggagacagccatctaaacagactcactaactattggcattaaagcttcagaaatctc c.*60
. . . . . . g.199019
tgcgtttgatattcaaacatcatatgccggaaattttcacagtttttagtgaacttaagg c.*120
. . . . . . g.199079
aatttagatcctactttggtatttttttttcttgttttaatttttgttttgtttttgttt c.*180
. . . . . . g.199139
ccatgttttcttgtcacacacctgagcacttcctcccgttggcaaacagaagttcaggat c.*240
. . . . . . g.199199
gagaccctgctggcctggtcctggcacatcctctgcactgttgaatcactggacttactg c.*300
. . . . . . g.199259
atcttagatgaccaccccctccctcacacctgtgggcagggcagaacagcctggcgggct c.*360
. . . . . . g.199319
acagtttagcatggccttcttgagctagggtggaatggggcagggtgctctggactctta c.*420
. . . . . . g.199379
ccccctcccctcccatctgtggcttggctctgctgtggccctcctggctgggtccccttg c.*480
. . . . . . g.199439
gtttttcgtgctggaacatccccaccagagcctctctgccataactgccagctgctctcc c.*540
. . . . . . g.199499
ccgagtgctcagctggcagaacacctttcctttctcacccagaacttaagagactgattt c.*600
. . . . . . g.199559
tttgtttcatctgcatttggtcttctctgttttgactctttcactgcagtaacctggctg c.*660
. . . . . . g.199619
tggctgctcaggttcccctcctcatgccccttggtacccttccctgtctgctctcccatg c.*720
. . . . . . g.199679
ccatgtacacacccacaacccgtccttccacttggaatatttttaccacctatcctgatc c.*780
. . . . . . g.199739
tttgaaggtagggttaggactacttaacctctattcccactcccctgcaaactgggggtt c.*840
. . . . . . g.199799
gtgggaagtgagcagccatctccctgtgtgattttttttttttttccctctgattcactt c.*900
. . . . . . g.199859
tgccatgtttccttcacatccagatccctgtcggtgttagttccactcttggtctttcac c.*960
. . . . . . g.199919
gctccccttgcctgtggaacattgtctggtcctagctgtggttcccattgttcccccttc c.*1020
. . . . . . g.199979
acccttctctgttaaccttgtgcctgtctcctgtatgatcacatcaccaaaaagggggag c.*1080
. . . . . . g.200039
gggggagaagactctttttttttggccattttgtaatcgtataaaaatagtagacaactg c.*1140
. . . . . . g.200099
cttaatggttggggttttttcacaattttcaacattagtgatttttttttctgtttgcaa c.*1200
. . . . . . g.200159
gttaaagggtttgtcattgtttctttaaaaaaaaatacaataatgcaccatatccctatg c.*1260
. . . . . . g.200219
cataaagtgcttcttctatttataaggttgaaaattctgaataacccttttagcattgaa c.*1320
. . . . . . g.200279
aaaaaaaacaaaaacaaaaaatggaaaaaaaaaaccttgtattttgtaaatattttcttt c.*1380
. . . . . . g.200339
tcctgctttggagctgtgtaatggcagcgaaacatgtagctgtctttgttctatagaaat c.*1440
. . . . . . g.200399
gcttttcttcagagaagctgatctttgttaatgtcttgattctgttcgcaaagcacagac c.*1500
. . . . . . g.200459
tagtgcttaaaaaaaaaaaagaaggaaaaattgaaaaaaataaaaaaaaaagttacagaa c.*1560
(downstream sequence)
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