(used for variant description)
(last modified May 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015076.3 in the CDK19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering CDK19 transcript NM_015076.3.
(upstream sequence)
. g.5013
cgcggggggagga c.-61
. . . . . . g.5073
ggaggagggactgagcggcggcggcccccgcgtcccgtgcctctatgggggaagcagaca c.-1
. . . . . . g.5133
ATGGATTATGATTTCAAGGCGAAGCTGGCGGCGGAGCGGGAGCGGGTGGAGGATTTGTTT c.60
M D Y D F K A K L A A E R E R V E D L F p.20
. . . . . . g.5193
GAGTACGAAGGGTGCAAAGTGGGACGCGGCACCTACGGTCACGTCTACAAGGCGAGGCGG c.120
E Y E G C K V G R G T Y G H V Y K A R R p.40
| 02 . . . . . g.74060
AAAGATGG | AAAAGATGAAAAGGAATATGCATTGAAGCAAATTGAAGGCACAGGAATATCC c.180
K D G | K D E K E Y A L K Q I E G T G I S p.60
. . | 03 . . . . g.149704
ATGTCGGCTTGTAGAGAGATTGCA | CTTTTGCGAGAATTGAAGCACCCTAATGTGATTGCA c.240
M S A C R E I A | L L R E L K H P N V I A p.80
. . . . . . g.149764
TTGCAGAAGGTGTTCCTTTCTCACAGTGACAGGAAGGTATGGCTGCTGTTTGATTATGCA c.300
L Q K V F L S H S D R K V W L L F D Y A p.100
. | 04 . . . . . g.152680
GAGCATGACTTGTGG | CATATTATTAAGTTTCACCGTGCATCAAAAGCAAATAAAAAGCCC c.360
E H D L W | H I I K F H R A S K A N K K P p.120
. . . . . . g.152740
ATGCAGTTGCCAAGATCTATGGTTAAATCCTTACTTTACCAGATTCTTGATGGTATCCAT c.420
M Q L P R S M V K S L L Y Q I L D G I H p.140
. . . | 05 . . . g.181527
TACCTCCATGCAAATTGGGTGCTTCACAGAGACTTG | AAACCAGCAAATATCCTAGTAATG c.480
Y L H A N W V L H R D L | K P A N I L V M p.160
. . . | 06 . . . g.188074
GGAGAAGGTCCTGAGAGGGGGAGAGTCAAAATAG | CTGACATGGGTTTTGCCAGATTATTC c.540
G E G P E R G R V K I A | D M G F A R L F p.180
. . . . . . g.188134
AATTCTCCTCTAAAGCCACTAGCAGATTTGGATCCAGTAGTTGTGACATTTTGGTATCGG c.600
N S P L K P L A D L D P V V V T F W Y R p.200
. . . . | 07 . . g.193078
GCTCCAGAACTTTTGCTTGGTGCAAGGCATTATACAAAGGCCATTG | ATATATGGGCAATA c.660
A P E L L L G A R H Y T K A I D | I W A I p.220
. . . . . . g.193138
GGTTGTATATTTGCTGAATTGTTGACTTCGGAACCTATTTTTCACTGTCGTCAGGAAGAT c.720
G C I F A E L L T S E P I F H C R Q E D p.240
. . . . . . g.193198
ATAAAAACAAGCAATCCCTTTCATCATGATCAACTGGATCGGATATTTAGTGTCATGGGG c.780
I K T S N P F H H D Q L D R I F S V M G p.260
. | 08 . . . . . g.193414
TTTCCTGCAG | ATAAAGACTGGGAAGATATTAGAAAGATGCCAGAATATCCCACACTTCAA c.840
F P A D | K D W E D I R K M P E Y P T L Q p.280
. . | 09 . . . . g.196887
AAAGACTTTAGAAGAACAAC | GTATGCCAACAGTAGCCTCATAAAGTACATGGAGAAACAC c.900
K D F R R T T | Y A N S S L I K Y M E K H p.300
. . . | 10 . . . g.197324
AAGGTCAAGCCTGACAGCAAAGTGTTCCTCTTG | CTTCAGAAACTCCTGACCATGGATCCA c.960
K V K P D S K V F L L | L Q K L L T M D P p.320
. . . . . . g.197384
ACCAAGAGAATTACCTCGGAGCAAGCTCTGCAGGATCCCTATTTTCAGGAGGACCCTTTG c.1020
T K R I T S E Q A L Q D P Y F Q E D P L p.340
. | 11 . . . . . g.198092
CCAACATTAGA | TGTATTTGCCGGCTGCCAGATTCCATACCCCAAACGAGAATTCCTTAAT c.1080
P T L D | V F A G C Q I P Y P K R E F L N p.360
. . . | 12 . . . g.198869
GAAGATGATCCTGAAGAAAAAGGTGACAAG | AATCAGCAACAGCAGCAGAACCAGCATCAG c.1140
E D D P E E K G D K | N Q Q Q Q Q N Q H Q p.380
. . . . . . g.198929
CAGCCCACAGCCCCTCCACAGCAGGCAGCAGCCCCTCCACAGGCGCCCCCACCACAGCAG c.1200
Q P T A P P Q Q A A A P P Q A P P P Q Q p.400
. . . . . . g.198989
AACAGCACCCAGACCAACGGGACCGCAGGTGGGGCTGGGGCCGGGGTCGGGGGCACCGGA c.1260
N S T Q T N G T A G G A G A G V G G T G p.420
. . . . . . g.199049
GCAGGGTTGCAGCACAGCCAGGACTCCAGCCTGAACCAGGTGCCTCCAAACAAGAAGCCA c.1320
A G L Q H S Q D S S L N Q V P P N K K P p.440
. . . . . | 13. g.205546
CGGCTAGGGCCTTCAGGCGCAAACTCAGGTGGACCTGTGATGCCCTCGGATTATCAG | CAC c.1380
R L G P S G A N S G G P V M P S D Y Q | H p.460
. . . . . . g.205606
TCCAGTTCTCGCCTGAATTACCAAAGCAGCGTTCAGGGATCCTCTCAGTCCCAGAGCACA c.1440
S S S R L N Y Q S S V Q G S S Q S Q S T p.480
. . . . . . g.205666
CTTGGCTACTCTTCCTCGTCTCAGCAGAGCTCACAGTACCACCCATCTCACCAGGCCCAC c.1500
L G Y S S S S Q Q S S Q Y H P S H Q A H p.500
g.205675
CGGTACTGA c.1509
R Y X p.502
. . . . . . g.205735
ccagctcccgttgggccaggccagcccagcccagagcacaggctccagcaatatgtctgc c.*60
. . . . . . g.205795
attgaaaagaaccaaaaaaatgcaaactatgatgccatttaaaactcatacacatgggag c.*120
. . . . . . g.205855
gaaaaccttatatactgagcattgtgcaggactgatagctcttctttattgacttaaaga c.*180
. . . . . . g.205915
agattcttgtgaagtttccccagcaccccttccctgcatgtgttccattgtgacttctct c.*240
. . . . . . g.205975
gataaagcgtctgatctaatcccagcacttctgtaaccttcagcatttctttgaaggatt c.*300
. . . . . . g.206035
tcctggtgcacctttctcatgctgtagcaatcactatggtttatcttttcaaagctcttt c.*360
. . . . . . g.206095
taataggattttaatgttttagaaacaggattccagtggtgtatagttttatacttcatg c.*420
. . . . . . g.206155
aactgatttagcaacacaggtaaaaatgcaccttttaaagcactacgttttcacagacaa c.*480
. . . . . . g.206215
taactgttctgctcatggaagtcttaaacagaaactgttactgtcccaaagtactttact c.*540
. . . . . . g.206275
attacgttcgtatttatctagtttcagggaaggtctaataaaaagacaagcggtgggaca c.*600
. . . . . . g.206335
gagggaacctacaaccaaaaactgcctagatctttgcagttatgtgctttatgccacgaa c.*660
. . . . . . g.206395
gaactgaagtatgtggtaatttttatagaatcattcatatggaactgagttcccagcatc c.*720
. . . . . . g.206455
atcttattctgaatagcattcagtaattaagaattacaattttaaccttcatgtagctaa c.*780
. . . . . . g.206515
gtctaccttaaaaagggtttcaagagctttgtacagtctcgatggcccacaccaaaacgc c.*840
. . . . . . g.206575
tgaagagagtaacaactgcactaggatttctgtaaggagtaattttgatcaaaagacgtg c.*900
. . . . . . g.206635
ttacttccctttgaaggaaaagtttttagtgtgtattgtacataaagtcggcttctctaa c.*960
. . . . . . g.206695
agaaccattggtttcttcacatctgggtctgcgtgagtaactttcttgcataatcaaggt c.*1020
. . . . . . g.206755
tactcaagtagaagcctgaaaattaatctgcttttaaaataaagagcagtgttctccatt c.*1080
. . . . . . g.206815
cgtatttgtattagatatagagtgactatttttaaagcatgttaaaaatttaggttttat c.*1140
. . . . . . g.206875
tcatgtttaaagtatgtattatgtatgcataattttgctgttgttactgaaacttaattc c.*1200
. . . . . . g.206935
tatcaagaatctttttcattgcactgaatgatttcttttgcccctaggagaaaacttaat c.*1260
. . . . . . g.206995
aattgtgcctaaaaactatgggcggatagtataagactatactagacaaagtgaatattt c.*1320
. . . . . . g.207055
gcatttccattatctatgaattagtggctgagttctttcttagctgctttaaggagcccc c.*1380
. . . . . . g.207115
tcactccccagagtcaaaaggaaatgtaaaaacttagagctcccattgtaatgtaagggg c.*1440
. . . . . . g.207175
caagaaatttgtgttcttctgaatgctactagcagcaccagccttgttttaaatgttttc c.*1500
. . . . . . g.207235
ttgagctagaagaaatagctgattattgtatatgcaaattacatgcatttttaaaaacta c.*1560
. . . . . . g.207295
ttctttctgaacttatctacctggttatgatactgtgggtccatacacaagtaaaataag c.*1620
. . . . . . g.207355
attagacagaagccagtatacattttgcactattgatgtgatactgtagccagccaggac c.*1680
. . . . . . g.207415
cttactgatctcagcataataatgctcactaataatgaagtctgcatagtgacactcatc c.*1740
. . . . . . g.207475
aagactgaagatgaagcaggttacgtgctccattggaaggagtttctgatagtctcctgc c.*1800
. . . . . . g.207535
tgttttaccccttccattttttaaaataagaaattagcagccctctgcataatgtagctg c.*1860
. . . . . . g.207595
cctatatgcagttttatcctgtgccctaaagcctcactgtccagagctgttggtcatcag c.*1920
. . . . . . g.207655
atgcttattgcaccctcaccatgtgcctggtgccctgctgggtagagaacacagaggaca c.*1980
. . . . . . g.207715
gggcatacttcttgtccttaaggagcttgtgatctgtgacagtaagccctcctgggatgt c.*2040
. . . . . . g.207775
ctgtgccatgtgattgacttacaagtgaaactgtcttataatatgaaggtctttttgttt c.*2100
. . . . . . g.207835
acttctaaacccacttgggtagttactatccccaaatctgttctgtaaataatattatgg c.*2160
. . . . . . g.207895
aagggtttctatgtcagtctaccttagagaaagccagtgattcaatatcacaaaaggcat c.*2220
. . . . . . g.207955
tgacgtatctttgaaatgttcacagcagccttttaacaacaactgggtggtccttgtagg c.*2280
. . . . . . g.208015
cagaacatactctcctaagtggttgtaggaaattgcaaggaaaatagaaggtctgttctt c.*2340
. . . . . . g.208075
gctctcaaggaggttacctttaataaaagaagacaaacccagatagatatgtaaaccaaa c.*2400
. . . . . . g.208135
atactatgccccttaatactttataagcagcattgttaaatagttcttacgcttatacat c.*2460
. . . . . . g.208195
tcacagaactaccctgttttccttgtatataatgacttttgctggcagaactgaaatata c.*2520
. . . . . . g.208255
aactgtaaggggatttcgtcagttgctcccagtatacaatatcctccaggacatagccag c.*2580
. . . . . . g.208315
aaatctccattccacacatgactgagttcctatccctgcactggtactggctcttttctc c.*2640
. . . . . . g.208375
ctctttccttgcctcagggttcgtgctacccactgattccctttacccttagtaataatt c.*2700
. . . . . . g.208435
ttggatcattttctttcctttaaaggggaacaaagccttttttttttttgagacggagtg c.*2760
. . . . . . g.208495
ttgctctgtcacccaagctggagtgcagtggcacgatcttggctcactccaacctccacc c.*2820
. . . . . . g.208555
ttccaggttcaagtgattctcctgcctcagcctcccgagtagctgggactacgggcacgc c.*2880
. . . . . . g.208615
accaccacgtctggctaatttttgtatttttagtagagatggggtttcaccctattggtc c.*2940
. . . . . . g.208675
aggctggtcttgaattcctcacctcaggtcatccgcctgtctcggcctcccgaagtgctg c.*3000
. . . . . . g.208735
ggattataggtgtgagccaccgcacccagttgggaacaaagcctttttaacacacgtaag c.*3060
. . . . . . g.208795
ggccctcaaaccgtgggacctctaaggagacctttgaagctttttgagggcaaactttac c.*3120
. . . . . . g.208855
ctttgtggtccccaaatgatggcatttctctttgaaatttattagatactgttatgtccc c.*3180
. . . . . . g.208915
ccaagggtacaggaggggcatccctcagcctatgggaacacccaaactaggaggggttat c.*3240
. . . . . . g.208975
tgacaggaaggaatgaatccaagtgaaggctttctgctcttcgtgttacaaaccagtttc c.*3300
. . . . . . g.209035
agagttagctttctggggaggtgtgtgtttgtgaaaggaattcaagtgttgcaggacaga c.*3360
. . . . . . g.209095
tgagctcaaggtaaggtagctttggcagcagggctgatactatgaggctgaaacaatcct c.*3420
. . . . . . g.209155
tgtgatgaagtagatcatgcagtgacatacaaagaccaaggattatgtatatttttatat c.*3480
. . . . . . g.209215
ctctgtggttttgaaactttagtacttagaattttggccttctgcactactcttttgctc c.*3540
. . . . . . g.209275
ttacgaacataatggactcttaagaatggaaagggatgacatttacctatgtgtgctgcc c.*3600
. . . . . . g.209335
tcattcctggtgaagcaactgctacttgttctctatgcctctaaaatgatgctgttttct c.*3660
. . . . . . g.209395
ctgctaaaggtaaaagaaaagaaaaaaatagttggaaaataagacatgcaacttgatgtg c.*3720
. . . . . . g.209455
cttttgagtaaatttatgcagcagaaactatacaatgaaggaagaattctatggaaatta c.*3780
. . . . . . g.209515
caaatccaaaactctatgatgatgtcttcctagggagtagagaaaggcagtgaaatggca c.*3840
. . . . . . g.209575
gttagaccaacagaggcttgaaggattcaagtacaagtaatattttgtataaaacatagc c.*3900
. . . . . . g.209635
agtttaggtccccataatcctcaaaaatagtcacaaatataacaaagttcattgttttag c.*3960
. . . . . . g.209695
ggtttttaaaaaacgtgttgtacctaaggccatacttactcttctatgctatcactgcaa c.*4020
. . . . . . g.209755
aggggtgatatgtatgtattatataaaaaaaaaaacccttaatgcactgttatctcctaa c.*4080
. . . . . . g.209815
atatttagtaaattaatactatttaatttttttaaagatttgtctgtgtagacactaaaa c.*4140
. . . . . . g.209875
gtattacacaaaatctggactgaaggtgtcctttttaacaacaatttaaagtacttttta c.*4200
. . . . . . g.209935
tatatgttatgtagtatatcctttctaaactgcctagtttgtatattcctataattccta c.*4260
. . . . . . g.209995
tttgtgaagtgtacctgttcttgtctcttttttcagtcattttctgcacgcatccccctt c.*4320
. . . . . . g.210055
tatatggttatagagatgactgtagcttttcgtgctccactgcgaggtttgtgctcagag c.*4380
. . . . . . g.210115
ccgctgcaccccagcgaggcctgctccatggagtgcaggacgagctactgctttggagcg c.*4440
. . . . . . g.210175
agggtttcctgcttttgagttgacctgacttccttcttgaaatgactgttaaaactaaaa c.*4500
. . . . . g.210232
taaattacattgcatttattttatattcttggttgaaataaaatttaattgactttg c.*4557
(downstream sequence)
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