(used for variant description)
(last modified May 29, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_031942.4 in the CDCA7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.12, covering CDCA7 transcript NM_031942.4.
(upstream sequence)
. g.5827
cctccgggccc c.-121
. . . . . . g.5887
gggtcggcgcgcccagcctgccagccgcgctgctgctgctcctcctgctgtgggaccgct c.-61
. . . . . . g.5947
gaccgcgcggctgctccgctctccccgctccaagcgccgatctgggcacccgccaccagc c.-1
. . | 02 . . . . g.9734
ATGGACGCTCGCCGCGTGCCG | CAGAAAGATCTCAGAGTAAAGAAGAACTTAAAGAAATTC c.60
M D A R R V P | Q K D L R V K K N L K K F p.20
. . . . . . g.9794
AGATATGTGAAGTTGATTTCCATGGAAACCTCGTCATCCTCTGATGACAGTTGTGACAGC c.120
R Y V K L I S M E T S S S S D D S C D S p.40
. . | 03. . . . g.10271
TTTGCTTCTGATAATTTTGCAAACACG | AAACCTAAATTCAGGTCAGATATCAGTGAAGAA c.180
F A S D N F A N T | K P K F R S D I S E E p.60
. . . . . . g.10331
CTGGCAAATGTTTTTTATGAGGACTCTGATAATGAATCTTTCTGCGGCTTTTCAGAAAGT c.240
L A N V F Y E D S D N E S F C G F S E S p.80
. . . . . . g.10391
GAGGTGCAAGATGTATTAGACCATTGTGGATTTTTACAGAAACCAAGGCCAGATGTCACT c.300
E V Q D V L D H C G F L Q K P R P D V T p.100
. . . . . . g.10451
AACGAACTGGCCGGTATTTTTCATGCCGACTCTGACGATGAATCATTTTGCGGTTTCTCA c.360
N E L A G I F H A D S D D E S F C G F S p.120
. . | 04 . . . . g.14245
GAGAGTGAGATACAAGATGGAATG | AGGCTGCAGTCAGTTCGGGAAGGCTGTAGGACCCGC c.420
E S E I Q D G M | R L Q S V R E G C R T R p.140
. . . . . . g.14305
AGCCAGTGCAGGCACTCTGGACCTCTCAGGGTGGCGATGAAGTTTCCAGCGCGGAGTACC c.480
S Q C R H S G P L R V A M K F P A R S T p.160
. . . . . . g.14365
AGGGGAGCAACCAACAAAAAAGCAGAGTCCCGCCAGCCCTCAGAGAATTCTGTGACTGAT c.540
R G A T N K K A E S R Q P S E N S V T D p.180
. . . . . . g.14425
TCCAACTCCGATTCAGAAGATGAAAGTGGAATGAATTTTTTGGAGAAAAGGGCTTTAAAT c.600
S N S D S E D E S G M N F L E K R A L N p.200
. . | 05 . . . . g.14840
ATAAAGCAAAACAAAGCAATG | CTTGCAAAACTCATGTCTGAATTAGAAAGCTTCCCTGGC c.660
I K Q N K A M | L A K L M S E L E S F P G p.220
. . . | 06 . . g.15799
TCGTTCCGTGGAAGACATCCCCTCCCAGGCTCCGACTCA | CAATCAAGGAGACCGCGAAGG c.720
S F R G R H P L P G S D S | Q S R R P R R p.240
. . . . . . g.15859
CGTACATTCCCGGGTGTTGCTTCCAGGAGAAACCCTGAACGGAGAGCTCGTCCTCTTACC c.780
R T F P G V A S R R N P E R R A R P L T p.260
. . . . . . g.15919
AGGTCAAGGTCCCGGATCCTCGGGTCCCTTGACGCTCTACCCATGGAGGAGGAGGAGGAA c.840
R S R S R I L G S L D A L P M E E E E E p.280
. . . . . | 07 . g.16441
GAGGATAAGTACATGTTGGTGAGAAAGAGGAAGACCGTGGATGGCTACATGAAT | GAAGAT c.900
E D K Y M L V R K R K T V D G Y M N | E D p.300
. . . . . . g.16501
GACCTGCCCAGAAGCCGTCGCTCCAGATCATCCGTGACCCTTCCGCATATAATTCGCCCA c.960
D L P R S R R S R S S V T L P H I I R P p.320
. . . . . . g.16561
GTGGAAGAAATTACAGAGGAGGAGTTGGAGAACGTCTGCAGCAATTCTCGAGAGAAGATA c.1020
V E E I T E E E L E N V C S N S R E K I p.340
. | 08 . . . . . g.17311
TATAACCGTTCACTG | GGCTCTACTTGTCATCAATGCCGTCAGAAGACTATTGATACCAAA c.1080
Y N R S L | G S T C H Q C R Q K T I D T K p.360
. . . . . . g.17371
ACAAACTGCAGAAACCCAGACTGCTGGGGCGTTCGAGGCCAGTTCTGTGGCCCCTGCCTT c.1140
T N C R N P D C W G V R G Q F C G P C L p.380
. . . . | 09 . . g.18148
CGAAACCGTTATGGTGAAGAGGTCAGGGATGCTCTGCTGGATCCG | AACTGGCATTGCCCG c.1200
R N R Y G E E V R D A L L D P | N W H C P p.400
. . . . . . g.18208
CCTTGTCGAGGAATCTGCAACTGCAGTTTCTGCCGGCAGCGAGATGGACGGTGTGCGACT c.1260
P C R G I C N C S F C R Q R D G R C A T p.420
. . . . . . g.18268
GGGGTCCTTGTGTATTTAGCCAAATATCATGGCTTTGGGAATGTGCATGCCTACTTGAAA c.1320
G V L V Y L A K Y H G F G N V H A Y L K p.440
| 10 . . . g.18675
AG | CCTGAAACAGGAATTTGAAATGCAAGCATAA c.1353
S | L K Q E F E M Q A X p.450
. . . . . . g.18735
tatctggaaaatttgctgcctgccttctacttctcaaatctttcttgtaaaagtttccaa c.*60
. . . . . . g.18795
ttttttcactgaaacctgagttaaaaatcttgatgatcagcctgtttcataagaaactcc c.*120
. . . . . . g.18855
aatcaagttaatcttagcagacatgtgtttctggagcatcacagaaggtatattgctagt c.*180
. . . . . . g.18915
tacactttgccctcctgcagtttcttctctgctcccaacccccatctcacagcatccccc c.*240
. . . . . . g.18975
tctatttccaatgctcctctccaaccgcttagtttctgaatttcttttaaattacagttt c.*300
. . . . . . g.19035
tatgaaagcatattttatttacttggtgttgaaatagccctcataaaacctaagcacttg c.*360
. . . . . . g.19095
gaaacacaataatagtattaactaactagatctattgaatttcagagaagagccttctaa c.*420
. . . . . . g.19155
cttgtttacacaaaaacgagtatgatttagcattcatactagttgaaatttttaatagaa c.*480
. . . . . . g.19215
tcaaggcacaaaagtcttaaaaccatgtggaaaaattaggtaattattgcagattgatgt c.*540
. . . . . . g.19275
ctctcaatcccatgtattgcgcttatgttacaagttgttgtcacagttgagacttaattt c.*600
. . . . . . g.19335
ctcctaatttcttctgcccgaagggtaagtggtgcgtccagcttacacaatcataattca c.*660
. . . . . . g.19395
aaggttggtgggcaatgtaatacttaattaaaataatgatggaagagctatctggagatt c.*720
. . . . . . g.19455
atgagtaagctgatttgaattttcagtataaaactttagtataattgtagtttgcaaagt c.*780
. . . . . . g.19515
ttatttcagttcacatgtaaggtattgcaaataaattcttggacaattttgtatggaaac c.*840
. . . . . . g.19575
ttgatattaaaaactagtctgtggttctttgcagtttcttgtaaatttataaaccaggca c.*900
. . . . . . g.19635
caaggttcaagtttagattttaagcacttttataacaatgataagtgcctttttggagat c.*960
. . . . . . g.19695
gtaacttttagcagtttgttaacctgacatctctgccagtctagtttctgggcaggtttc c.*1020
. . . . . . g.19755
ctgtgtcagtattccccctcctctttgcattaatcaaggtatttggtagaggtggaatct c.*1080
. . . . . . g.19815
aagtgtttgtatgtccaatttacttgcatatgtaaaccattgctgtgccattcaatgttt c.*1140
. . . . . . g.19875
gatgcataattggaccttgaatcgataagtgtaaatacagcttttgatctgtaatgcttt c.*1200
. . . . . . g.19935
tatacaaaagtttattttaataataaaatgtttgttctaacttgtctgcttttttaaaaa c.*1260
. . . . . . g.19995
taatcttactgtacttaattctaattttttcctcatatttaaataaaaggccatttccac c.*1320
g.20001
cttttc c.*1326
(downstream sequence)
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