(used for variant description)
(last modified November 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_019842.3 in the KCNQ5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047170.1, covering KCNQ5 transcript NM_019842.3.
(upstream sequence)
. . . . g.5610
actctatccccgggggcagtttgggaaggagggagtggtagtcgcgg c.-301
. . . . . . g.5670
gaatgagggagcaagagaaaccctctcaaagtgacgccccaaacaggtccggatttagaa c.-241
. . . . . . g.5730
ttcgaagctaaaggctgttagaaattgggactcctcggcctcctctgcagcccctccttt c.-181
. . . . . . g.5790
cccgccccgaagcccgggcggtttgctggctgcctgcttccccgcccccggctcagaggt c.-121
. . . . . . g.5850
ctctggctggcgggcgccccgtcggccgccggcttcctccttgaaacccgccggcgcaca c.-61
. . . . . . g.5910
tgaggccgctgcccccgccgcaggcgctggcggccccctcgcggtgcccgtggtgatgcc c.-1
. . . . . . g.5970
ATGCCCCGCCACCACGCGGGAGGAGAGGAGGGCGGCGCCGCCGGGCTCTGGGTGAAGAGC c.60
M P R H H A G G E E G G A A G L W V K S p.20
. . . . . . g.6030
GGCGCAGCGGCGGCGGCGGCGGGCGGGGGGCGCTTGGGCAGCGGCATGAAGGATGTGGAG c.120
G A A A A A A G G G R L G S G M K D V E p.40
. . . . . . g.6090
TCCGGCCGGGGCAGGGTGCTGCTGAACTCGGCAGCCGCCAGGGGCGACGGCCTGCTACTG c.180
S G R G R V L L N S A A A R G D G L L L p.60
. . . . . . g.6150
CTGGGCACCCGCGCGGCCACGCTCGGTGGCGGCGGCGGTGGCCTGAGGGAGAGCCGCCGG c.240
L G T R A A T L G G G G G G L R E S R R p.80
. . . . . . g.6210
GGCAAGCAGGGGGCCCGGATGAGCCTGCTGGGGAAGCCGCTCTCTTACACGAGTAGCCAG c.300
G K Q G A R M S L L G K P L S Y T S S Q p.100
. . . . . . g.6270
AGCTGCCGGCGCAACGTCAAGTACCGGCGGGTGCAGAACTACCTGTACAACGTGCTGGAG c.360
S C R R N V K Y R R V Q N Y L Y N V L E p.120
. . . | 02 . . g.387650
AGACCCCGCGGCTGGGCGTTCATCTACCACGCTTTCGT | TTTTCTCCTTGTCTTTGGTTGC c.420
R P R G W A F I Y H A F V | F L L V F G C p.140
. . . . . . g.387710
TTGATTTTGTCAGTGTTTTCTACCATCCCTGAGCACACAAAATTGGCCTCAAGTTGCCTC c.480
L I L S V F S T I P E H T K L A S S C L p.160
| 03 . . . . . g.425707
TTGATCCTG | GAGTTCGTGATGATTGTCGTCTTTGGTTTGGAGTTCATCATTCGAATCTGG c.540
L I L | E F V M I V V F G L E F I I R I W p.180
. . . . . . g.425767
TCTGCGGGTTGCTGTTGTCGATATAGAGGATGGCAAGGAAGACTGAGGTTTGCTCGAAAG c.600
S A G C C C R Y R G W Q G R L R F A R K p.200
. | 04 . . . . . g.461086
CCCTTCTGTGTTATAG | ATACCATTGTTCTTATCGCTTCAATAGCAGTTGTTTCTGCAAAA c.660
P F C V I D | T I V L I A S I A V V S A K p.220
. . . . . . g.461146
ACTCAGGGTAATATTTTTGCCACGTCTGCACTCAGAAGTCTCCGTTTCCTACAGATCCTC c.720
T Q G N I F A T S A L R S L R F L Q I L p.240
. . . . . . g.461206
CGCATGGTGCGCATGGACCGAAGGGGAGGCACTTGGAAATTACTGGGTTCAGTGGTTTAT c.780
R M V R M D R R G G T W K L L G S V V Y p.260
. | 05 . . . . . g.461530
GCTCACAGCAAG | GAATTAATCACAGCTTGGTACATAGGATTTTTGGTTCTTATTTTTTCG c.840
A H S K | E L I T A W Y I G F L V L I F S p.280
. . . . . . g.461590
TCTTTCCTTGTCTATCTGGTGGAAAAGGATGCCAATAAAGAGTTTTCTACATATGCAGAT c.900
S F L V Y L V E K D A N K E F S T Y A D p.300
. | 06 . . . . g.489019
GCTCTCTGGTGGGGCACA | ATTACATTGACAACTATTGGCTATGGAGACAAAACTCCCCTA c.960
A L W W G T | I T L T T I G Y G D K T P L p.320
. . . . . . g.489079
ACTTGGCTGGGAAGATTGCTTTCTGCAGGCTTTGCACTCCTTGGCATTTCTTTCTTTGCA c.1020
T W L G R L L S A G F A L L G I S F F A p.340
| 07 . . . . . g.495079
CTTCCTGCC | GGCATTCTTGGCTCAGGTTTTGCATTAAAAGTACAAGAACAACACCGCCAG c.1080
L P A | G I L G S G F A L K V Q E Q H R Q p.360
. . . . | 08 . . g.504218
AAACACTTTGAGAAAAGAAGGAACCCAGCTGCCAACCTCATTCAG | TGTGTTTGGCGTAGT c.1140
K H F E K R R N P A A N L I Q | C V W R S p.380
. . . . . . g.504278
TACGCAGCTGATGAGAAATCTGTTTCCATTGCAACCTGGAAGCCACACTTGAAGGCCTTG c.1200
Y A A D E K S V S I A T W K P H L K A L p.400
. . | 09 . . | 10. . g.517154
CACACCTGCAGCCCTACCAA | GAAAGAACAAGGGGAAGCATCAAGCAG | TCAGAAGCTAAGT c.1260
H T C S P T K | K E Q G E A S S S | Q K L S p.420
. . . . . . g.517214
TTTAAGGAGCGAGTGCGCATGGCTAGCCCCAGGGGCCAGAGTATTAAGAGCCGACAAGCC c.1320
F K E R V R M A S P R G Q S I K S R Q A p.440
. . . . . . g.517274
TCAGTAGGTGACAGGAGGTCCCCAAGCACCGACATCACAGCCGAGGGCAGTCCCACCAAA c.1380
S V G D R R S P S T D I T A E G S P T K p.460
. . . . . . g.517334
GTGCAGAAGAGCTGGAGCTTCAACGACCGAACCCGCTTCCGGCCCTCGCTGCGCCTCAAA c.1440
V Q K S W S F N D R T R F R P S L R L K p.480
. . | 11 . . . g.553498
AGTTCTCAGCCAAAACCAGTGATAGATG | CTGACACAGCCCTTGGCACTGATGATGTATAT c.1500
S S Q P K P V I D A | D T A L G T D D V Y p.500
. . . . . . g.553558
GATGAAAAAGGATGCCAGTGTGATGTATCAGTGGAAGACCTCACCCCACCACTTAAAACT c.1560
D E K G C Q C D V S V E D L T P P L K T p.520
. | 12. . . . . g.574336
GTCATTCGAGCTATCAG | AATTATGAAATTTCATGTTGCAAAACGGAAGTTTAAGGAAACA c.1620
V I R A I R | I M K F H V A K R K F K E T p.540
. . . . . . g.574396
TTACGTCCATATGATGTAAAAGATGTCATTGAACAATATTCTGCTGGTCATCTGGACATG c.1680
L R P Y D V K D V I E Q Y S A G H L D M p.560
. . | 13 . . . g.576316
TTGTGTAGAATTAAAAGCCTTCAAACACG | TGTTGATCAAATTCTTGGAAAAGGGCAAATC c.1740
L C R I K S L Q T R | V D Q I L G K G Q I p.580
. . . . . . g.576376
ACATCAGATAAGAAGAGCCGAGAGAAAATAACAGCAGAACATGAGACCACAGACGATCTC c.1800
T S D K K S R E K I T A E H E T T D D L p.600
. . . | 14 . . . g.578196
AGTATGCTCGGTCGGGTGGTCAAGGTTGAAAAACAG | GTACAGTCCATAGAATCCAAGCTG c.1860
S M L G R V V K V E K Q | V Q S I E S K L p.620
. . . . . . g.578256
GACTGCCTACTAGACATCTATCAACAGGTCCTTCGGAAAGGCTCTGCCTCAGCCCTCGCT c.1920
D C L L D I Y Q Q V L R K G S A S A L A p.640
. . . . . . g.578316
TTGGCTTCATTCCAGATCCCACCTTTTGAATGTGAACAGACATCTGACTATCAAAGCCCT c.1980
L A S F Q I P P F E C E Q T S D Y Q S P p.660
. . . . . . g.578376
GTGGATAGCAAAGATCTTTCGGGTTCCGCACAAAACAGTGGCTGCTTATCCAGATCAACT c.2040
V D S K D L S G S A Q N S G C L S R S T p.680
. . . . . . g.578436
AGTGCCAACATCTCGAGAGGCCTGCAGTTCATTCTGACGCCAAATGAGTTCAGTGCCCAG c.2100
S A N I S R G L Q F I L T P N E F S A Q p.700
. . . . . . g.578496
ACTTTCTACGCGCTTAGCCCTACTATGCACAGTCAAGCAACACAGGTGCCAATTAGTCAA c.2160
T F Y A L S P T M H S Q A T Q V P I S Q p.720
. . . . . . g.578556
AGCGATGGCTCAGCAGTGGCAGCCACCAACACCATTGCAAACCAAATAAATACGGCACCC c.2220
S D G S A V A A T N T I A N Q I N T A P p.740
. . . . . . g.578616
AAGCCAGCAGCCCCAACAACTTTACAGATCCCACCTCCTCTCCCAGCCATCAAGCATCTG c.2280
K P A A P T T L Q I P P P L P A I K H L p.760
. . . . . . g.578676
CCCAGGCCAGAAACTCTGCACCCTAACCCTGCAGGCTTACAGGAAAGCATTTCTGACGTC c.2340
P R P E T L H P N P A G L Q E S I S D V p.780
. . . . . . g.578736
ACCACCTGCCTTGTTGCCTCCAAGGAAAATGTTCAGGTTGCACAGTCAAATCTCACCAAG c.2400
T T C L V A S K E N V Q V A Q S N L T K p.800
. . . . . . g.578796
GACCGTTCTATGAGGAAAAGCTTTGACATGGGAGGAGAAACTCTGTTGTCTGTCTGTCCC c.2460
D R S M R K S F D M G G E T L L S V C P p.820
. . . . . . g.578856
ATGGTGCCGAAGGACTTGGGCAAATCTTTGTCTGTGCAAAACCTGATCAGGTCGACCGAG c.2520
M V P K D L G K S L S V Q N L I R S T E p.840
. . . . . . g.578916
GAACTGAATATACAACTTTCAGGGAGTGAGTCAAGTGGCTCCAGAGGCAGCCAAGATTTT c.2580
E L N I Q L S G S E S S G S R G S Q D F p.860
. . . . . . g.578976
TACCCCAAATGGAGGGAATCCAAATTGTTTATAACTGATGAAGAGGTGGGTCCCGAAGAG c.2640
Y P K W R E S K L F I T D E E V G P E E p.880
. . . . . . g.579036
ACAGAGACAGACACTTTTGATGCCGCACCGCAGCCTGCCAGGGAAGCTGCCTTTGCATCA c.2700
T E T D T F D A A P Q P A R E A A F A S p.900
. . . . . . g.579096
GACTCTCTAAGGACTGGAAGGTCACGATCATCTCAGAGCATTTGTAAGGCAGGAGAAAGT c.2760
D S L R T G R S R S S Q S I C K A G E S p.920
. . . g.579135
ACAGATGCCCTCAGCTTGCCTCATGTCAAACTGAAATAA c.2799
T D A L S L P H V K L K X p.932
. . . . . . g.579195
gttcttcattttctttccaggcatagcagttctttagccatacatatcattgcatgaact c.*60
. . . . . . g.579255
atttcgaaagcccttctaaaaagttgaaattgcaagaatcgggaagaacatgaaaggcag c.*120
. . . . . . g.579315
tttataagcccgttaccttttaattgcatgaaaatgcatgtttagggatggctaaaattc c.*180
. . . . . . g.579375
caaggtgcatcgacattaacccactcatttagtaatgtaccttgagttaaaaagcctgag c.*240
. . . . . . g.579435
aaaccaaacacagctaatgctatggggtgtatgaatatgtcaagtttaggtcatttagaa c.*300
. . . . . . g.579495
gatttgacactgtattttgaaattatgggagtaaacaccttcaaatttcaggcatttctg c.*360
. . . . . . g.579555
ctttgtgactaaatacaaactacattttcaagattaggccataatgtatatttaaacaca c.*420
. . . . . . g.579615
atggctatcaacagctgctaataaggtatcaactaaagcagaattggggaataatagaaa c.*480
. . . . . . g.579675
tggctgcttatttcaagatatatttgccaacccattcctattcagtcattttattattaa c.*540
. . . . . . g.579735
tgtaatttgaatgtcaatttgtgtgcttttggtgatttagcgctgtggcaagcaattttg c.*600
. . . . . . g.579795
cacatcattttcatgttgttctttatgacaagaatgttcttcaattagaaaatgtgcaaa c.*660
. . . . . . g.579855
taatgaaattcagggccagtgaggcaaatagactatctgacatatttgactttatgaaaa c.*720
. . . . . . g.579915
catattgcctgatggcagaatcaactttataagtggtcaacttctacacaagcgtatgaa c.*780
. . . . . . g.579975
atactggtcagtagaacagccattgtgattggactggtttctctgcaatggcgccaaccc c.*840
. . . . . . g.580035
caggcttgccaatactgcctatgtaaagggcaagtgtgagaagctattctcatttcgctg c.*900
. . . . . . g.580095
acatacaggtaggactatgggggatgggacatttgagtgggactgagataggaaaggctt c.*960
. . . . . . g.580155
gaaaagaacccagaaacaccaccaggaagttggcaaagtaaaagaaaatgacttccccct c.*1020
. . . . . . g.580215
caaagggcaatgagagggagagaaacaaaccaaaatagaagaactagactttttagaaaa c.*1080
. . . . . . g.580275
tgagtattgctagggaattcaactacctaatcttcccttattcttatatataagcagaga c.*1140
. . . . . . g.580335
atttttgcaaggtatttattttttaatatgccctgaatgtcttttgctattatgtgtaca c.*1200
. . . . . . g.580395
ttttgcatatgaaagtctaaaacgaaacttcctttactttttatactgtagtgaaaattt c.*1260
. . . . . . g.580455
tctattcttcccaagaatgttgtcccaaatctgaaattactggttcaatttcctgatata c.*1320
. . . . . . g.580515
aacatttacaattagaagctagatagtactggcagagtctgcaaatcagaacacttaaat c.*1380
. . . . . . g.580575
atatcatggcagcaaaaagaccaagggaaacaaaatgacaaatgtatttatcagaaagca c.*1440
. . . . . . g.580635
agcaatgctgactgcttgttagaaacccatctagctatcttaggtcaccagaacttcagc c.*1500
. . . . . . g.580695
caacgtaatgacattcaaaaaaaaaggacataagagatagcatttcaattcaattaaacc c.*1560
. . . . . . g.580755
ctagccacaggaggactcaagaaaggaagttgtttccttggcagacataaatgctgcctc c.*1620
. . . . . . g.580815
cagaagtacttctccagcagccaagcagaatgagcagggttatcaagtggatgttcaaag c.*1680
. . . . . . g.580875
gaagaaggaggccctgaactccaccaatcctccccagccctccccaacaggctttctcca c.*1740
. . . . . . g.580935
tcattgactctcccctgcttttcttcttcattaactccttattcattccctgccagtatt c.*1800
. . . . . . g.580995
ttgcttctgaacttcaccaggccttaaccagcctccatccccaggtcaaccagttctccg c.*1860
. . . . . . g.581055
ctttacctaaaatgtgcttctcaaccttttagaaccttgtcccttttgataaacatggaa c.*1920
. . . . . . g.581115
atttttaaagcttcctcttcgcatcccacttggattctaagacaattagaatcatttaga c.*1980
. . . . . . g.581175
atctttttggctgctggaaatgtatagaagatagaggctaaattttacacttcagttaag c.*2040
. . . . . . g.581235
acattgtcaatccttttaagcaattgttttcattttcaaaatacagaatgttagtaaatt c.*2100
. . . . . . g.581295
atgaaaatcaatttttcatcttcattcaacctgaagttgtgattcccccttgcaagaatg c.*2160
. . . . . . g.581355
ttgcatacacacacacacacacacacacacacacacacacacacacacacacacacacac c.*2220
. . . . . . g.581415
acacacacccctccactgacctaaagccagacacctgccgtgactgggcaggctctctcc c.*2280
. . . . . . g.581475
cattattaacagaggaagaggagggaggcagcaactttcaggtagcactgattcttggac c.*2340
. . . . . . g.581535
atactctgtcctgggtcaaaccccactggcagcaggaattctgaatgtattggggacccc c.*2400
. . . . . . g.581595
tccttaggcctcgttaagtctcaaacacagtacagctcacccagcattgctgacgactga c.*2460
. . . . . . g.581655
agattcagaaacaaaacctacacacagcactgaggtcttaatcatagcaaaatgtgataa c.*2520
. . . . . . g.581715
accatgttgtgaaaaacttttatacattgaagccatgaccattttgtgtctatcttactc c.*2580
. . . . . . g.581775
tagcacaaaaattgggggatgttaaaagatagttgtgtggaagctataaggttctgtctg c.*2640
. . . . . . g.581835
tcgtgttactctctgtggaaatgagaggggtctcccatttacactaagcaaatttccatt c.*2700
. . . . . . g.581895
ggtcaattttaatgatgtcttgaagcacaatttagctgagcactgagtagccatatgctt c.*2760
. . . . . . g.581955
tctgagtacaagtgtgtctgccttcttcaacatgtagggttgatcaagctaatacttaat c.*2820
. . . . . . g.582015
tgcaaatatcccttgtatgaggttaactaaaaaaattttgctatgtctgatctacatgtt c.*2880
. . . . . . g.582075
tgcattttgttcaactaaattaatatttgtagattgcaagttttgtttaaaataacttta c.*2940
. . . . . . g.582135
ttgagtttttaagtcctgatctgttctaaggtgcctttctcacctcccattgattcagtg c.*3000
. . . . . . g.582195
attctgaagttcttaatttgcaagtaaaataagtctactagagaggaggaaatcaggcac c.*3060
. . . . . . g.582255
aaattgaccaattctcatgccatttgcaaagcaaaactgtaaggatgatgaaacctggct c.*3120
. . . . . . g.582315
aactaaattaatggatcatttcactaaatcagatagaggaaatatcataaatattaactt c.*3180
. . . . . . g.582375
gtctccctagaagctgagatttttcgccttaaatgacatggttgtgtttttgtaagagaa c.*3240
. . . . . . g.582435
acttaatctaatctaataatgtgcatttaagtaagcagttctaagtcatgtatgacaatg c.*3300
. . . . . . g.582495
caattgtctgtttcctgaaaacaaataaatcgggaacaccatatccatttcaagctatca c.*3360
. . . . . . g.582555
ttaaagtgtaatttcctttgctctcttttactgggattatttgttttaaagtaaaacatt c.*3420
. g.582572
aaaaagatgtctataaa c.*3437
(downstream sequence)
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