(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004980.4 in the KCND3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032011.2, covering KCND3 transcript NM_004980.4.
(upstream sequence)
. . . . . . g.5060
ggagagaaatggctgaaagtggaaacccggagcggtttggggcgcttcgcaaagttctcc c.-421
. . . . . . g.5120
agctcggcgagccggcggtgtgtctaccagaggctgggggccagtccatctggtcctgcc c.-361
. . . . . . g.5180
cgacgccacttccaccccgcgagctctgggaaaggtctctacgtgacgccaagggccgtc c.-301
. . . . . . g.5240
gcggccccggggagagggatcgaaagactcactctgcgaggtgtttacactggaggtggg c.-241
. . . . . . g.5300
ggacgggaagggactgggcaaagttacctggactcaactaaattcctgcgcttgcttagt c.-181
. . . . . . g.5360
gttgacatttgaataggatccgagatgttctgcttttatcccgggcagccctgatatgtc c.-121
. . . . . | 02. g.11369
agcaacaggctgaggttccagacctgaaatcgcactgcaagaaaaagg | ggtttgctgaac c.-61
. . . . . . g.11429
taactccaagctggtgtgcctagcgtccgcgcggctgccggcccaagagctggagtcacc c.-1
. . . . . . g.11489
ATGGCGGCCGGAGTTGCGGCCTGGCTGCCTTTTGCCCGGGCTGCGGCCATCGGGTGGATG c.60
M A A G V A A W L P F A R A A A I G W M p.20
. . . . . . g.11549
CCGGTGGCCAACTGCCCCATGCCCCTGGCCCCGGCCGACAAGAACAAGCGGCAGGATGAG c.120
P V A N C P M P L A P A D K N K R Q D E p.40
. . . . . . g.11609
CTGATTGTCCTCAACGTGAGTGGGCGGAGGTTCCAGACCTGGAGGACCACGCTGGAGCGC c.180
L I V L N V S G R R F Q T W R T T L E R p.60
. . . . . . g.11669
TACCCGGACACCCTGCTGGGCAGCACGGAGAAGGAGTTCTTCTTCAACGAGGACACCAAG c.240
Y P D T L L G S T E K E F F F N E D T K p.80
. . . . . . g.11729
GAGTACTTCTTCGACCGGGACCCCGAGGTGTTCCGCTGCGTGCTCAACTTCTACCGCACG c.300
E Y F F D R D P E V F R C V L N F Y R T p.100
. . . . . . g.11789
GGGAAGCTGCACTACCCGCGCTACGAGTGCATCTCTGCCTACGACGACGAGCTGGCCTTC c.360
G K L H Y P R Y E C I S A Y D D E L A F p.120
. . . . . . g.11849
TACGGCATCCTCCCGGAGATCATCGGGGACTGCTGCTACGAGGAGTACAAGGACCGCAAG c.420
Y G I L P E I I G D C C Y E E Y K D R K p.140
. . . . . . g.11909
AGGGAGAACGCCGAGCGGCTCATGGACGACAACGACTCGGAGAACAACCAGGAGTCCATG c.480
R E N A E R L M D D N D S E N N Q E S M p.160
. . . . . . g.11969
CCCTCGCTCAGCTTCCGCCAGACCATGTGGCGGGCCTTCGAGAACCCCCACACCAGCACG c.540
P S L S F R Q T M W R A F E N P H T S T p.180
. . . . . . g.12029
CTGGCCCTGGTCTTCTACTACGTGACTGGCTTCTTCATCGCTGTCTCGGTCATCACCAAC c.600
L A L V F Y Y V T G F F I A V S V I T N p.200
. . . . . . g.12089
GTGGTGGAGACGGTGCCGTGCGGCACGGTCCCGGGCAGCAAGGAGCTGCCGTGCGGGGAG c.660
V V E T V P C G T V P G S K E L P C G E p.220
. . . . . . g.12149
CGCTACTCGGTGGCCTTCTTCTGCCTGGACACGGCGTGCGTCATGATCTTCACCGTGGAG c.720
R Y S V A F F C L D T A C V M I F T V E p.240
. . . . . . g.12209
TACCTCCTGCGGCTCTTCGCGGCTCCCAGCCGCTACCGCTTCATCCGCAGCGTCATGAGC c.780
Y L L R L F A A P S R Y R F I R S V M S p.260
. . . . . . g.12269
ATCATCGACGTGGTGGCCATCATGCCCTACTACATCGGTCTGGTCATGACCAACAACGAG c.840
I I D V V A I M P Y Y I G L V M T N N E p.280
. . . . . . g.12329
GACGTGTCCGGCGCCTTCGTCACGCTCCGGGTCTTCCGCGTCTTCAGGATCTTCAAGTTT c.900
D V S G A F V T L R V F R V F R I F K F p.300
. . . . . . g.12389
TCCCGCCACTCCCAGGGCCTGCGGATCCTGGGCTACACACTGAAGAGCTGTGCCTCCGAA c.960
S R H S Q G L R I L G Y T L K S C A S E p.320
. . . . . . g.12449
CTGGGCTTTCTTCTCTTCTCCCTCACCATGGCCATCATCATCTTTGCCACTGTGATGTTT c.1020
L G F L L F S L T M A I I I F A T V M F p.340
. . . . . . g.12509
TATGCCGAGAAGGGCTCCTCGGCCAGCAAGTTCACAAGCATCCCTGCCTCGTTTTGGTAC c.1080
Y A E K G S S A S K F T S I P A S F W Y p.360
. . | 03 . . . . g.207083
ACCATTGTCACCATGACCACACTGGG | ATACGGAGACATGGTGCCTAAGACGATTGCAGGG c.1140
T I V T M T T L G | Y G D M V P K T I A G p.380
. . . . . . g.207143
AAGATCTTCGGCTCCATCTGCTCCTTGAGTGGCGTCCTGGTCATTGCCCTGCCAGTCCCT c.1200
K I F G S I C S L S G V L V I A L P V P p.400
. . . . . . g.207203
GTGATTGTTTCCAACTTTAGCCGGATTTACCACCAGAATCAGAGAGCTGATAAACGCAGG c.1260
V I V S N F S R I Y H Q N Q R A D K R R p.420
| 04 . . . . . g.213415
GCACAAAAG | AAGGCCCGCCTTGCCAGGATCCGTGTGGCCAAAACAGGCAGTTCGAATGCA c.1320
A Q K | K A R L A R I R V A K T G S S N A p.440
. . . . . | 05 . g.213850
TACCTGCACAGCAAGCGCAACGGGCTCCTCAACGAGGCGCTGGAGCTGACG | GGCACCCCA c.1380
Y L H S K R N G L L N E A L E L T | G T P p.460
. . . . . . g.213910
GAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTG c.1440
E E E H M G K T T S L I E S Q H H H L L p.480
. . | 06 . . . . g.215702
CACTGCCTGGAAAAAACCACT | GGGTTGTCCTATCTTGTGGATGATCCCCTGTTATCTGTA c.1500
H C L E K T T | G L S Y L V D D P L L S V p.500
. | 07 . . . . g.216924
CGAACCTCCACCATCAAG | AACCACGAGTTTATTGATGAGCAGATGTTTGAGCAGAACTGC c.1560
R T S T I K | N H E F I D E Q M F E Q N C p.520
. . . . . . g.216984
ATGGAGAGTTCAATGCAGAACTACCCATCCACAAGAAGTCCCTCACTGTCCAGCCACCCA c.1620
M E S S M Q N Y P S T R S P S L S S H P p.540
. . . . . . g.217044
GGCCTCACTACCACCTGCTGCTCCCGTCGTAGTAAGAAGACCACACACCTGCCCAATTCT c.1680
G L T T T C C S R R S K K T T H L P N S p.560
. . . . . . g.217104
AACCTGCCAGCTACTCGCCTGCGCAGCATGCAAGAGCTCAGCACGATCCACATCCAGGGC c.1740
N L P A T R L R S M Q E L S T I H I Q G p.580
. . | 08 . . . . g.217911
AGTGAGCAGCCCTCCCTCACAACCAG | TCGCTCCAGCCTTAATTTGAAAGCAGACGACGGA c.1800
S E Q P S L T T S | R S S L N L K A D D G p.600
. . . . . . g.217971
CTGAGACCAAACTGCAAAACATCCCAGATCACCACAGCCATCATCAGCATCCCCACTCCC c.1860
L R P N C K T S Q I T T A I I S I P T P p.620
. . . . . . g.218031
CCAGCGCTAACCCCAGAGGGGGAAAGTCGGCCACCCCCTGCCAGCCCAGGCCCCAACACG c.1920
P A L T P E G E S R P P P A S P G P N T p.640
. . . . g.218079
AACATTCCTTCCATAGCCAGCAATGTTGTCAAGGTCTCCGCCTTGTAA c.1968
N I P S I A S N V V K V S A L X p.655
. . . . . . g.218139
aaccactggacagagggccagagtgggtagtggggaatgaaggggactggcatgttggtg c.*60
. . . . . . g.218199
ggtggtcactgagaccactccctcccccctttccccactatttctgcctgccccattgta c.*120
. . . . . . g.218259
cccctagcactgagacttgtgcctggaaggaaaaagaggtagcaaaggggcacctgaggt c.*180
. . . . . . g.218319
tcacgctgctagcgtggacatagccctgtgatactgcatctcactggggccagaggaagg c.*240
g.218324
gaggg c.*245
(downstream sequence)
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