(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000217.2 in the KCNA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011815.1, covering KCNA1 transcript NM_000217.2.
(upstream sequence)
. . g.5025
aaatggaccgagcggacccgccgcc c.-1081
. . . . . . g.5085
gcacgcaccctgctccactccaagctcctaagggctcctggcgcgccgcgtagccttggc c.-1021
. . . . . . g.5145
gaggtccgcgctggggtgcggagagcgaagggaactggagagccatgtagatccaggctc c.-961
. . . . . . g.5205
tcgcccgcccgcctccttcgggatcgaatcaagggctcccatagtgttaggagggggcga c.-901
. . . . . . g.5265
gagtgctgtttatcgtcatttgcctcggagcttcgagagagggtggtattttgcttttcc c.-841
. . . . . . g.5325
gccccgcatcctccggaactccctgcaccggagagaggacggcgtctccaggttgctggc c.-781
. . . . . . g.5385
aaccggtgagaatgggggtagggaaggaacattttcgccgtagctgctccgtaaagcgat c.-721
. . . . . . g.5445
tgtccaactgagaggggcgtcggacgagtggaccagggcggcgagtttgcccggcgcgtc c.-661
. . . . . . g.5505
tcggatgctgctgcggcggccgccgcggctcccgccagggcactgcaaagacgacctgcc c.-601
. . . . . . g.5565
gcattcccactcgggctctccgctgactcagcaccgcccctgcgccaagccagccggcca c.-541
. | 02 . . . . . g.5992
g | cgtgcatcgatcgccctggtgggagcttagaaggcggcaggcgaagaggggtaggaggg c.-481
. . . . . . g.6052
gggagagccgaggagaagcagagagggtggcaggcgtggggatctgccgagccggcactg c.-421
. . . . . . g.6112
caccgggtcctaggaaggctctcggaggggaggggaggccagggcgacccccgaagcaat c.-361
. . . . . . g.6172
ggcccagtccgctagaacggcactgcgttaaggcacctgggatcaggaagaaatatctaa c.-301
. . . . . . g.6232
acaacaacaacagaaaaccaacaaacccccaaacccaaacccaaccctctgcaaaaagct c.-241
. . . . . . g.6292
gcacccggcccgcaggcgagggggattccaaactgagtgaaaggcagggtggaggggaag c.-181
. . . . . . g.6352
gcagcgagaggcaaagtcgcagatctcccgacctgctcgtgttgaagcacctccccctgg c.-121
. . . . . . g.6412
gcgtgagggagacgcgcgctccggtgggggggccgcttgggtcccccccacccctggtcc c.-61
. . . . . . g.6472
ctggctgcttcccaccccgggctctctcctggcctcccacccccgcgcccggcttccacc c.-1
. . . . . . g.6532
ATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAG c.60
M T V M S G E N V D E A S A A P G H P Q p.20
. . . . . . g.6592
GATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTG c.120
D G S Y P R Q A D H D D H E C C E R V V p.40
. . . . . . g.6652
ATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAAC c.180
I N I S G L R F E T Q L K T L A Q F P N p.60
. . . . . . g.6712
ACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTAC c.240
T L L G N P K K R M R Y F D P L R N E Y p.80
. . . . . . g.6772
TTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGC c.300
F F D R N R P S F D A I L Y Y Y Q S G G p.100
. . . . . . g.6832
CGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTAC c.360
R L R R P V N V P L D M F S E E I K F Y p.120
. . . . . . g.6892
GAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAG c.420
E L G E E A M E K F R E D E G F I K E E p.140
. . . . . . g.6952
GAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCC c.480
E R P L P E K E Y Q R Q V W L L F E Y P p.160
. . . . . . g.7012
GAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCC c.540
E S S G P A R V I A I V S V M V I L I S p.180
. . . . . . g.7072
ATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGC c.600
I V I F C L E T L P E L K D D K D F T G p.200
. . . . . . g.7132
ACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCC c.660
T V H R I D N T T V I Y N S N I F T D P p.220
. . . . . . g.7192
TTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTC c.720
F F I V E T L C I I W F S F E L V V R F p.240
. . . . . . g.7252
TTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTG c.780
F A C P S K T D F F K N I M N F I D I V p.260
. . . . . . g.7312
GCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAG c.840
A I I P Y F I T L G T E I A E Q E G N Q p.280
. . . . . . g.7372
AAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTT c.900
K G E Q A T S L A I L R V I R L V R V F p.300
. . . . . . g.7432
AGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAA c.960
R I F K L S R H S K G L Q I L G Q T L K p.320
. . . . . . g.7492
GCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTT c.1020
A S M R E L G L L I F F L F I G V I L F p.340
. . . . . . g.7552
TCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCC c.1080
S S A V Y F A E A E E A E S H F S S I P p.360
. . . . . . g.7612
GATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCT c.1140
D A F W W A V V S M T T V G Y G D M Y P p.380
. . . . . . g.7672
GTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATT c.1200
V T I G G K I V G S L C A I A G V L T I p.400
. . . . . . g.7732
GCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAG c.1260
A L P V P V I V S N F N Y F Y H R E T E p.420
. . . . . . g.7792
GGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGAC c.1320
G E E Q A Q L L H V S S P N L A S D S D p.440
. . . . . . g.7852
CTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGAT c.1380
L S R R S S S T M S K S E Y M E I E E D p.460
. . . . . . g.7912
ATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACT c.1440
M N N S I A H Y R Q V N I R T A N C T T p.480
. . . . g.7960
GCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAA c.1488
A N Q N C V N K S K L L T D V X p.495
. . . . . . g.8020
aaaacaaaggcaagcaaacaaaaaagccccacttagcagctcaaaagacttaaaaaacaa c.*60
. . . . . . g.8080
aacagaaaacctagtgactcatgtcacgctttgtagatactttactaagtagacttggaa c.*120
. . . . . . g.8140
tgctctatttaactgtcaatgcgttgttgcattgaggattttgggggtggtgaaccagaa c.*180
. . . . . . g.8200
gctttcaagatccatgacaaaataaactattttccttttattaaaaaatgggaaaagaga c.*240
. . . . . . g.8260
gagtattttctaaaactggcttaaaaagattcagtccacgaactagtctaggtaaaataa c.*300
. . . . . . g.8320
taatcatatgcttccccaaactgaaacatttttaatgctttggtttctttaactttttta c.*360
. . . . . . g.8380
aaaactcagaacaagatgatcacttagaaatatgaaattgaaattcgcatgggactccag c.*420
. . . . . . g.8440
taaaacatctttgcaaactgcgtagcacattgaagacagtgcatcagatgtattatatgt c.*480
. . . . . . g.8500
aacatgatagaccagccaaaatggacaatgaatagatatttttatttcgatcaactgaac c.*540
. . . . . . g.8560
tgcatattacaaggtgaaaaaagaaaactccgattacttaagactggttcacaaagcacc c.*600
. . . . . . g.8620
ttataaattggatactggtcctgatctgtagggatttccccctgggcccattctctttct c.*660
. . . . . . g.8680
aatccagattattctctaagaaaaagttaactgaattaaattaattgattcttctgcagt c.*720
. . . . . . g.8740
gccgctaaatggtctcaactgcagatgagccaaatacaggtcttttctcaccaggcctgc c.*780
. . . . . . g.8800
actccgacccctggctttcagaactggatgtaaaaccttagcctccttattgcaagagag c.*840
. . . . . . g.8860
cacaaatgaagttaaatgtaagcatgtttgaatctgatacaatttattttataatcgcat c.*900
. . . . . . g.8920
gctgagaagttaacccagacaataggggataagcttaagttgaaatcgattcttctaaaa c.*960
. . . . . . g.8980
atagatcctttttcatttgcattcaccaaaagtgcactcctccatttattaactatttta c.*1020
. . . . . . g.9040
ttagtaaataaagtactgtatttaagtgcatatgttagtcagatgggaacaataactttt c.*1080
. . . . . . g.9100
tggagctcaaagcatgttctcttattcagcattatggcctatttgactaagatgtacctt c.*1140
. . . . . . g.9160
gaattaattaatgcatgatttcagtaataaaaattttaaaagtaataaaaattacaagtc c.*1200
. . . . . . g.9220
tgtggggtgaaaggcccaatagaaattatggggggtgggggtgggggcactcagtcaatt c.*1260
. . . . . . g.9280
ttcctgcctttgctcagggaaataccaggtttttgtgcaggtataggcggagagaggacc c.*1320
. . . . . . g.9340
aatatgcccatcccttaaagggaagccatgtgaaaaactcaataagtcatcaaagtacat c.*1380
. . . . . . g.9400
atagcaacacctaagaacaagtattctttctagctgaagacaaacacaagcaacacaaac c.*1440
. . . . . . g.9460
aagcaaacaaacaaacaaacaaaaaggtgcaatactgcatgttttttggtgcattcttag c.*1500
. . . . . . g.9520
gatgtaaatgaaaatgtttctctattatatgcatccgaagcagagctgatttttttttct c.*1560
. . . . . . g.9580
ttgcagtcattctttgaagtctgtagagacttcagccctccccttgaggctccctgaaga c.*1620
. . . . . . g.9640
aactaaaccaattgatttaatagttgcttagtgcctttatcctgtacccacagtgaactg c.*1680
. . . . . . g.9700
tagaaagtgcctccttaacacagctgagaagttaggtagcaaaagtggggaagggttggg c.*1740
. . . . . . g.9760
gcacagaccttttgctttttctttttccattctcgctctctcatttcaccactgtgagaa c.*1800
. . . . . . g.9820
gaccacaccaccctaaaccctggagaggagagacccaggagggtgctgtctctctggcca c.*1860
. . . . . . g.9880
tctactagcattggtccctttgacagcctgacgctggatgtgaactgagacccatctttg c.*1920
. . . . . . g.9940
aactggacatgaactgtgaacttgttttttcctctctccaccaaagccaagataaacttt c.*1980
. . . . . . g.10000
ttgggaatttgtttcctatcgagggccactttggacacacaaggcttcctcaggtccagt c.*2040
. . . . . . g.10060
gtagtgctcctggcacctttccttatttttttctctgtcggtaacagcactttgcaaatc c.*2100
. . . . . . g.10120
tctctgacggtccagtcttttcaggcattgttgtggatgtgggaacactcagttcataat c.*2160
. . . . . . g.10180
aacctttcctaggccttccctcctggtctacccctttcagatatttcctgatgcccctat c.*2220
. . . . . . g.10240
gatcttcccacctggcagtcacttcacaggttgaacatctaacttctgctgcccccccgt c.*2280
. . . . . . g.10300
tacccagcccagagaatggtggggaccctgttcctggctgaaagagagccacggaacaca c.*2340
. . . . . . g.10360
ggcctctggagctcggcagctgcccaccggtggagaggtactcacagcctttcaaaggac c.*2400
. . . . . . g.10420
cctgaggtggggaatcttcattctgcacttagcatgtggctgcctgttacctgacattct c.*2460
. . . . . . g.10480
ggcccagcttcttctgaaaatctgtcctgcttctcccacccctttcccccatcctgtcct c.*2520
. . . . . . g.10540
agaactagcagtgaggcaatcaccctagaaactcgagttacacccattctggctaactcg c.*2580
. . . . . . g.10600
attaaaagaaagaacatggatatcttattttcctatgtgacttttgtgaatctgtgagat c.*2640
. . . . . . g.10660
gaacacaacacacatcgtggaagatgaggggccaagaactgcgcagcatccgactacagg c.*2700
. . . . . . g.10720
gcattaaaccctcccatgtgatgtctccttctcgtctgaaccttaactcattctggcgat c.*2760
. . . . . . g.10780
tcctttcctacttgcttaaaaatccccaattaggaaaaaaatgccaacctcctcccaggc c.*2820
. . . . . . g.10840
ttggggttatcttgatctttcatttcaacgttgaggtctagtgcacacagaacttgaaac c.*2880
. . . . . . g.10900
accgcactctgtcaacagcaataatccactcagtactgtgggatggatgggttaatggat c.*2940
. . . . . . g.10960
gagaaaacggcaccaagactgactttgggtatttggtatatttaccgtggttacactctg c.*3000
. . . . . . g.11020
gactggttgattcttctgcatgtgatatagaaaaaagtgctgcatgcggtgaacctgtca c.*3060
. . . . . . g.11080
gtctgggactgggggtgagttgttgttatgagtttggggtggtgtgaggaaagtgaatgc c.*3120
. . . . . . g.11140
tgcttagctcatctgtagctcattgcaatgaattcagtaagaatggagtacagggattat c.*3180
. . . . . . g.11200
ctgtgtagcataggcatgcaatgtttgaccaagctcttaccctcgcactgtaatgtgttg c.*3240
. . . . . . g.11260
aaatgtctttgtagacctgaaggtgcacttaacaaaactgcctattaagggatgactatt c.*3300
. . . . . . g.11320
ttttggtttacttattcatatttattttagcagcctttttaccttttcttccccttccta c.*3360
. . . . . . g.11380
ggcatggagctgtaacagctcatgtcctgactatgtgttttctccagaaggagaagactt c.*3420
. . . . . . g.11440
ctgatgtgctgatagctataattcctctcttccagtctattggggccctagttcaatagg c.*3480
. . . . . . g.11500
gtggcaatagaagagttggtcacaccagggctgttagccatcccagaatctctgaagtgg c.*3540
. . . . . . g.11560
ttaactcacctgaagtgatctgaatcagagagaccaaagacattcatttcctctgtcctc c.*3600
. . . . . . g.11620
agatttctagaagacaaattctagccaggaaaactttctgtttttgcatctcccttttcc c.*3660
. . . . . . g.11680
catttgtgcccaactccccttgcactccctggagacttgagttctgattttcagttatat c.*3720
. . . . . . g.11740
cagctcattgggagtgtgttcgtgggtgagccttgcagaatcagataaaccaatagcaag c.*3780
. . . . . . g.11800
tccttctccaggattctggccagtgggcagtcatttccctgaaatgaattgtagggcagg c.*3840
. . . . . . g.11860
tttagattccactatggtggacgtgaagcacaggtggtgtcacaatcttgatttgcttga c.*3900
. . . . . . g.11920
gaattaaaaaaatacatgtaaatggtaaatgaggaatacatttttttaaagtagaaattt c.*3960
. . . . . . g.11980
ggtttagcctataaaaggccttcttcacattgtgtatagttacacgtttttcaaattagg c.*4020
. . . . . . g.12040
taccatctaaaagtcaataaaaatagtttcctagccctctcatttaatataggagacctc c.*4080
. . . . . . g.12100
aaaacacatgctttttaacaattttacattttaattcttagtttggtagattggattgaa c.*4140
. . . . . . g.12160
agaaaggagaaagaacattagcagaaggcactttcccattttcttccaggaatgacttat c.*4200
. . . . . . g.12220
tcctggggtggtgagaattggtgggtggtaaccatccatagtataaaattgttagaaaga c.*4260
. . . . . . g.12280
atataaactgccaaacaagcatgttatcttcaggcttttccaagcaagaatgaagtcttt c.*4320
. . . . . . g.12340
tgatgtttatgttcattttaagaagacaaacaaactaaaattttaagaccagacacaacc c.*4380
. . . . . . g.12400
caagttgaattgtgatctcaggaggtgaactctcattcaccatgtggcatattactacct c.*4440
. . . . . . g.12460
gtatttatatcatggaatttcagggtatatgtgaacatgtctagtatgactcaggtaaac c.*4500
. . . . . . g.12520
ctttaaagaatgtatgttacttaccatttttgtaaagaagcaaacaggagctgaattgtt c.*4560
. . . . . . g.12580
aaccaaaactgttccattaccttgggtcactgtgcaaactaattcagggtacagatataa c.*4620
. . . . . . g.12640
agtttagaagccttgggattaaatgccagcctctttgctcaggcaaaatgaccctgggct c.*4680
. . . . . . g.12700
ttcttgggaagtccagcatgtatgtaaggggtgaggccctgctgacctcagggcttttcg c.*4740
. . . . . . g.12760
ctttaaggagattaaccctagtcacagtgattttcatttaggagctaactaggagtttac c.*4800
. . . . . . g.12820
tctttatgacgtgaaacttcaaagagtatagaaaacttttgtaccacaatcaaagaagaa c.*4860
. . . . . . g.12880
gaaatggtgtatggaaagaaaacaaaacaaaacaagaaatctcttgtaaaatattccagg c.*4920
. . . . . . g.12940
tcaaagttgtctcctctccaaaccttgcagaagcacctttcttctcttcagcgcactgtt c.*4980
. . . . . . g.13000
ttgggactgtttatgcagcagatgtaagtagacaacatggactccatgtgacatgcctct c.*5040
. . . . . . g.13060
aatagtaaagataaagtattactgaggttaaaaataaaaattgagtagtattaatttaaa c.*5100
. . . . . . g.13120
gtgcaccatcaggacaacaaaccatttaagctgaaaaaacgctattttatttcttgagtt c.*5160
. . . . . . g.13180
tgccagttgcttccaccttgagttaaggacgtgtctcatcttcacctactgcgcattctc c.*5220
. . . . . . g.13240
ccttctctaactgtgtaatatgtcaggtcaaggacattgaatgttatgaattgagaacct c.*5280
. . . . . . g.13300
aattgatgcgcatagttttcatctatgcaattttacttgcttctgtcactttacgatctg c.*5340
. . . . . g.13350
ttcatatttggcatcaattaaagatactttttaaggatcttatcaaggaa c.*5390
(downstream sequence)
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