(used for variant description)
(last modified July 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018719.4 in the CDCA7L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering CDCA7L transcript NM_018719.4.
(upstream sequence)
. . . . . . g.5060
gtgctccgggcggagcgcgctagctgctcgggcgcggggcgttcttggtgcgccgggccg c.-61
. . . . . . g.5120
tggtgagtccgggctcccgtggccgcgtgctgggaggagactggagcccggttaggaaga c.-1
. . | 02 . . . . g.34066
ATGGAGTTGGCGACTCGCTACCAG | ATCCCTAAAGAAGTGGCTGACATCTTTAACGCCCCC c.60
M E L A T R Y Q | I P K E V A D I F N A P p.20
. . . . . . g.34126
AGTGATGATGAAGAGTTTGTTGGCTTCCGAGATGATGTTCCCATGGAAACCCTCTCGTCA c.120
S D D E E F V G F R D D V P M E T L S S p.40
. . . . | 03 . . g.39185
GAGGAGAGCTGCGATAGTTTTGACTCACTAGAGTCAGGGAAACAG | CAGGATGTGCGCTTT c.180
E E S C D S F D S L E S G K Q | Q D V R F p.60
. . . . . . g.39245
CATTCCAAATACTTCACAGAAGAGCTAAGAAGAATTTTTATAGAGGACACTGACTCAGAG c.240
H S K Y F T E E L R R I F I E D T D S E p.80
. . . . . . g.39305
ACTGAGGATTTTGCAGGATTTACGCAGAGTGATCTGAATGGAAAGACTAACCCAGAAGTA c.300
T E D F A G F T Q S D L N G K T N P E V p.100
| 04 . . . . . . g.42474
ATG | GTCGTGGAGTCAGATTTGAGTGATGATGGCAAAGCATCTTTGGTGAGCGAGGAAGAG c.360
M | V V E S D L S D D G K A S L V S E E E p.120
. . . . . . g.42534
GAAGATGAAGAAGAAGATAAGGCTACCCCTAGAAGAAGCAGGTCTAGAAGAAGTAGTATT c.420
E D E E E D K A T P R R S R S R R S S I p.140
. . . . . . g.42594
GGTCTTCGAGTAGCCTTTCAGTTCCCCACCAAGAAGCTGGCCAACAAACCAGATAAAAAC c.480
G L R V A F Q F P T K K L A N K P D K N p.160
. . . . . . g.42654
AGTTCTTCCGAGCAGTTGTTTTCTAGCGCACGCTTACAGAATGAGAAAAAAACAATTCTT c.540
S S S E Q L F S S A R L Q N E K K T I L p.180
. . . . . . g.42714
GAAAGAAAGAAAGACTGTAGACAGGTGATACAAAGGGAAGATTCTACCTCTGAGTCTGAG c.600
E R K K D C R Q V I Q R E D S T S E S E p.200
. . . . . . g.42774
GATGACTCTCGGGATGAGAGCCAGGAGAGTTCAGATGCTTTGCTGAAAAGGACCATGAAC c.660
D D S R D E S Q E S S D A L L K R T M N p.220
. . | 05 . . . . g.44324
ATCAAGGAGAACAAAGCCATG | CTTGCCCAGTTATTGGCGGAATTGAACTCGATGCCAGAT c.720
I K E N K A M | L A Q L L A E L N S M P D p.240
. . . | 06 . . . g.44495
TTCTTCCCAGTACGAACCCCAACCTCAGCTTCT | AGGAAGAAGACAGTGAGGCGGGCCTTC c.780
F F P V R T P T S A S | R K K T V R R A F p.260
. . . . . . g.44555
TCGGAGGGACAGATCACGCGGCGTATGAACCCAACCCGGAGTGCGCGGCCTCCTGAGAAG c.840
S E G Q I T R R M N P T R S A R P P E K p.280
. . . . . . g.44615
TTTGCTCTAGAGAACTTCACTGTCTCAGCCGCTAAATTTGCGGAAGAGTTTTACAGCTTC c.900
F A L E N F T V S A A K F A E E F Y S F p.300
. . | 07 . . . . g.45332
CGAAGAAGGAAGACAATTGGG | GGGAAATGCCGGGAGTACAGACGACGTCACCGTATATCT c.960
R R R K T I G | G K C R E Y R R R H R I S p.320
. . . . . . g.45392
TCTTTTCGGCCAGTGGAGGATATCACCGAAGAGGACTTAGAAAATGTTGCCATAACTGTT c.1020
S F R P V E D I T E E D L E N V A I T V p.340
. . | 08. . . . g.46698
CGAGATAAAATCTATGATAAAGTTCTG | GGTAACACGTGCCATCAGTGTCGACAAAAGACC c.1080
R D K I Y D K V L | G N T C H Q C R Q K T p.360
. . . . . . g.46758
ATCGACACCAAGACAGTGTGTCGGAACCAGGGTTGCTGTGGTGTGCGAGGACAGTTCTGT c.1140
I D T K T V C R N Q G C C G V R G Q F C p.380
. . . . . | 09. g.47813
GGACCATGCCTGCGGAACCGCTATGGGGAGGATGTCAGATCGGCATTGCTGGACCCG | GAT c.1200
G P C L R N R Y G E D V R S A L L D P | D p.400
. . . . . . g.47873
TGGGTGTGTCCCCCCTGTCGTGGGATCTGCAATTGCAGCTACTGTCGGAAGCGTGACGGC c.1260
W V C P P C R G I C N C S Y C R K R D G p.420
. . . . . . g.47933
CGCTGTGCCACAGGAATCCTCATTCATCTGGCCAAGTTTTATGGTTATGACAATGTTAAG c.1320
R C A T G I L I H L A K F Y G Y D N V K p.440
. | 10 . . . g.48618
GAATATCTGGAGAG | CTTACAAAAGGAGCTGGTAGAAGACAATTAA c.1365
E Y L E S | L Q K E L V E D N X p.454
. . . . . . g.48678
gaggaaaacaaacagaaccagccacctcaccatagagtactccaacaagacatgcatacc c.*60
. . . . . . g.48738
attggtgcctaagaaagatttttttacagttgtgtttttatacagaaattctttgtagaa c.*120
. . . . . . g.48798
attactattttttgttaaagattgtttatatgcttacaaagatttctcaggaagacagca c.*180
. . . . . . g.48858
gagcagaggaatctatatagatgtatgcacagacctgtctgtatgctgaactttgttaaa c.*240
. . . . . . g.48918
aatatctgccagttattaaaaagcacagtttaaatggggtggggttaaagttcaggtaag c.*300
. . . . . . g.48978
taagttagagagaaaacattgtatgatcagctcctgcacttgatctatctatctttggct c.*360
. . . . . . g.49038
tcccaaacagtaactcactccaggccaagtgtgccttagcacgagtgaccacagtttaat c.*420
. . . . . . g.49098
agaccacacacatcgtttaacctgctcttggtcattggaaatttacactgaacaaagtgc c.*480
. . . . . . g.49158
aattaactgtagaacagttttatttttattaaaacttgactgaacaaaaggggaccatca c.*540
. . . . . . g.49218
acattgtagacactggacactggaggccttacagagtgctagcctcttccttcaggactc c.*600
. . . . . . g.49278
acctggggcctgctgcttttatattttgaaagagtttaagggctaataatttaatttgtt c.*660
. . . . . . g.49338
gtttgttaaaaattaaaatctccgttctttccggctgcattgcttttgcatgttcacata c.*720
. . . . . . g.49398
tgatgtacttttatgatgtacttttttttttttgagatggagtcttgttctgttgcccag c.*780
. . . . . . g.49458
gagggagtgcagtggtgcaacctcggctcactgcaacctttgcctcctaggttcaagtga c.*840
. . . . . . g.49518
ttctcctacctcctgagtaactgggattacagtcgtgtgccaccacgctcagccctgagt c.*900
. . . . . . g.49578
tagtttctagtatttttttctgactttcactctaaggatagcgttgaaaaaagaatgcac c.*960
. . . . . . g.49638
gtgtgagttactaaaaagttagaataatgtgcatgggaacagtgcagcaacatgctagaa c.*1020
. . . . . . g.49698
aatcctcactgcactccagcagaggctagaggaatgccagtgttaccttacgcttctaga c.*1080
. . . . . . g.49758
agcagagccactccagccagaacccattttgcagtcttctcttcgctcttcagcctgaag c.*1140
. . . . . . g.49818
gtccagatgtagctggggcctctcagtttggttctatacacagggcactcgtaggtctgt c.*1200
. . . . . . g.49878
ttggtttcttgtctgtccacgggggtggcttttgcaaagatgaccggcatagggcatgcc c.*1260
. . . . . . g.49938
agctccttgagacgggcttcaacaatggttcctgcttgggtgtcccagcgggcgcctatg c.*1320
. . . . . . g.49998
gcaaaaacacagcggttgcaattgtgtggcagcttgctactaatgataatgatcaagtaa c.*1380
. . . . g.50041
gttgtttgatgcaataaacattcaacattctggttttgtcata c.*1423
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center