(used for variant description)
(last modified August 20, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_017950.3 in the CCDC40 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering CCDC40 transcript NM_017950.3.
(upstream sequence)
. . . g.5031
ggatgttgacagcgtcgcctagcaacgggaa c.-1
. . | 02 . . . g.6522
ATGGCGGAACCGGGCGGCGCGGCGGGCCG | GTCCCATCCGGAAGATGGATCGGCTTCTGAG c.60
M A E P G G A A G R | S H P E D G S A S E p.20
. . . | 03 . . . g.8207
GGAGAGAAGGAAGGGAATAATGAAAGCCACATG | GTGTCACCACCAGAGAAGGATGATGGC c.120
G E K E G N N E S H M | V S P P E K D D G p.40
. . . . . . g.8267
CAGAAAGGTGAAGAAGCTGTCGGTAGCACAGAGCATCCTGAGGAAGTCACAACCCAAGCG c.180
Q K G E E A V G S T E H P E E V T T Q A p.60
. . . . . . g.8327
GAAGCTGCAATTGAAGAGGGGGAGGTGGAGACAGAAGGGGAAGCAGCAGTGGAAGGGGAA c.240
E A A I E E G E V E T E G E A A V E G E p.80
. . . . . . g.8387
GAGGAGGCTGTGTCCTATGGAGATGCTGAAAGCGAAGAGGAATATTACTATACAGAAACT c.300
E E A V S Y G D A E S E E E Y Y Y T E T p.100
. . . . . . g.8447
TCATCCCCGGAAGGGCAAATCAGTGCTGCAGATACGACTTACCCGTATTTCAGTCCTCCT c.360
S S P E G Q I S A A D T T Y P Y F S P P p.120
. . . . . . g.8507
CAGGAACTGCCTGGAGAGGAGGCATACGATAGTGTTAGCGGGGAGGCTGGTCTCCAAGGC c.420
Q E L P G E E A Y D S V S G E A G L Q G p.140
. . . . . . g.8567
TTCCAGCAAGAGGCCACCGGTCCACCAGAATCCAGAGAAAGGAGGGTCACCTCCCCAGAG c.480
F Q Q E A T G P P E S R E R R V T S P E p.160
. . . . . . g.8627
CCATCCCACGGAGTCTTAGGCCCGTCGGAGCAAATGGGCCAGGTCACCTCTGGGCCAGCA c.540
P S H G V L G P S E Q M G Q V T S G P A p.180
. | 04 . . . . . g.15695
GTGGGCAGATTG | ACAGGATCCACAGAGGAGCCCCAGGGGCAGGTGCTCCCAATGGGCGTC c.600
V G R L | T G S T E E P Q G Q V L P M G V p.200
. . . . . . g.15755
CAGCACCGCTTCCGGCTGAGCCACGGGAGCGACATCGAGTCCTCAGACCTGGAGGAGTTC c.660
Q H R F R L S H G S D I E S S D L E E F p.220
. | 05 . . . . . g.16995
GTCTCGCAGGAGCCAG | TGATCCCCCCAGGGGTGCCCGATGCCCACCCCAGGGAAGGAGAC c.720
V S Q E P V | I P P G V P D A H P R E G D p.240
. . . . . . g.17055
CTGCCAGTGTTCCAGGACCAGATCCAGCAGCCCAGCACCGAGGAGGGGGCCATGGCAGAG c.780
L P V F Q D Q I Q Q P S T E E G A M A E p.260
. . . . . . g.17115
AGAGTGGAGTCCGAGGGGAGTGACGAGGAAGCAGAAGACGAAGGGTCCCAGCTGGTGGTT c.840
R V E S E G S D E E A E D E G S Q L V V p.280
. | 06 . . . . . g.18319
TTGGACCCAGACCAC | CCCCTGATGGTAAGATTCCAGGCTGCCCTGAAGAACTACCTGAAC c.900
L D P D H | P L M V R F Q A A L K N Y L N p.300
. . . | 07 . . g.18453
CGACAGATCGAAAAGTTGAAGCTGGACCTCCAAGAGCTG | GTTGTGGCTACCAAGCAGAGC c.960
R Q I E K L K L D L Q E L | V V A T K Q S p.320
. . . . . . g.18513
CGAGCCCAGCGGCAGGAGCTGGGGGTGAATCTCTATGAGGTGCAGCAGCACCTGGTACAC c.1020
R A Q R Q E L G V N L Y E V Q Q H L V H p.340
. . . . . . g.18573
CTGCAGAAGCTGCTGGAGAAGAGTCACGACCGCCACGCAATGGCCTCGAGCGAGCGCAGG c.1080
L Q K L L E K S H D R H A M A S S E R R p.360
. . . . . . g.18633
CAGAAGGAGGAGGAGCTGCAGGCCGCCCGCGCTCTCTACACCAAGACCTGCGCAGCCGCC c.1140
Q K E E E L Q A A R A L Y T K T C A A A p.380
. | 08 . . . . g.26903
AACGAGGAGCGCAAAAAGT | TGGCGGCTCTGCAGACTGAGATGGAGAACTTGGCCCTGCAT c.1200
N E E R K K L | A A L Q T E M E N L A L H p.400
. . . . . . g.26963
CTCTTCTACATGCAGAACATCGACCAGGACATGCGTGACGACATCCGCGTGATGACACAA c.1260
L F Y M Q N I D Q D M R D D I R V M T Q p.420
. . . . . | 09. g.27229
GTGGTAAAGAAGGCCGAGACGGAGAGGATCCGGGCAGAAATCGAGAAGAAAAAGCAG | GAC c.1320
V V K K A E T E R I R A E I E K K K Q | D p.440
. . . . . . g.27289
CTGTATGTGGACCAGCTCACCACTCGAGCCCAGCAACTGGAAGAAGACATTGCCCTGTTT c.1380
L Y V D Q L T T R A Q Q L E E D I A L F p.460
. . . . . . g.27349
GAGGCTCAGTACTTGGCCCAAGCTGAGGACACCCGGATTTTAAGGAAAGCAGTGAGTGAG c.1440
E A Q Y L A Q A E D T R I L R K A V S E p.480
| 10 . . . . . . g.33913
| GCCTGCACCGAGATCGACGCCATCAGCGTGGAGAAGAGGCGCATCATGCAGCAATGGGCC c.1500
| A C T E I D A I S V E K R R I M Q Q W A p.500
. . . . . . g.33973
AGCAGCCTGGTGGGCATGAAGCACCGCGACGAGGCGCACAGGGCGGTGCTGGAGGCGCTC c.1560
S S L V G M K H R D E A H R A V L E A L p.520
| 11 . . . . . . g.49972
AG | AGGATGCCAGCATCAAGCCAAATCCACCGACGGCGAGATTGAGGCCTATAAGAAATCC c.1620
R | G C Q H Q A K S T D G E I E A Y K K S p.540
. . . . . . g.50032
ATCATGAAGGAGGAAGAAAAGAACGAGAAGCTGGCGAGCATCCTGAACCGGACAGAGACG c.1680
I M K E E E K N E K L A S I L N R T E T p.560
. . . . . . g.50092
GAAGCCACACTGCTGCAGAAGCTCACCACCCAGTGCCTGACCAAGCAGGTGGCCCTGCAG c.1740
E A T L L Q K L T T Q C L T K Q V A L Q p.580
. . . . . . g.50152
AGCCAGTTCAATACCTACAGGCTCACCCTGCAGGACACAGAGGATGCCCTCAGCCAGGAC c.1800
S Q F N T Y R L T L Q D T E D A L S Q D p.600
| 12 . . . . . . g.50298
CAGCTG | GAACAAATGATACTCACGGAGGAGTTGCAGGCCATCCGCCAAGCCATCCAGGGC c.1860
Q L | E Q M I L T E E L Q A I R Q A I Q G p.620
. . . . . . g.50358
GAGCTGGAGCTCAGGAGGAAGACGGATGCTGCCATCCGGGAGAAGCTGCAGGAGCACATG c.1920
E L E L R R K T D A A I R E K L Q E H M p.640
. . . . . . g.50418
ACCTCCAACAAGACCACCAAATACTTCAACCAGCTCATCCTGAGGCTGCAGAAGGAGAAG c.1980
T S N K T T K Y F N Q L I L R L Q K E K p.660
| 13 . . . . . g.53162
ACCAACATG | ATGACACATCTTTCCAAAATCAACGGTGACATTGCCCAGACCACCCTGGAC c.2040
T N M | M T H L S K I N G D I A Q T T L D p.680
. . . . . . g.53222
ATCACACACACCAGCAGCAGGCTGGACGCACACCAGAAGACCCTGGTGGAGCTGGACCAG c.2100
I T H T S S R L D A H Q K T L V E L D Q p.700
. . . . . . g.53282
GACGTGAAGAAAGTCAACGAGCTCATCACCAACAGCCAGAGCGAGATCTCCCGGCGCACG c.2160
D V K K V N E L I T N S Q S E I S R R T p.720
. . . . . . g.53342
ATCCTGATCGAGAGGAAGCAAGGGCTCATCAACTTCCTCAACAAGCAGCTGGAGCGGATG c.2220
I L I E R K Q G L I N F L N K Q L E R M p.740
. | 14 . . . . . g.54416
GTCTCCGAGCTGGGG | GGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGC c.2280
V S E L G | G E E V G P L E L E I K R L S p.760
. . . . . . g.54476
AAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTG c.2340
K L I D E H D G K A V Q A Q V T W L R L p.780
. . . . . . g.54536
CAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCA c.2400
Q Q E M V K V T Q E Q E E Q L A S L D A p.800
. . . . | 15 . g.55986
TCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAA | GCAAGATTGAG c.2460
S K K E L H I M E Q K K L R V E S | K I E p.820
. . . . . . g.56046
CAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTG c.2520
Q E K K E Q K E I E H H M K D L D N D L p.840
. . . . . . g.56106
AAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAAC c.2580
K K L N M L M N K N R C S S E E L E Q N p.860
. . . | 16 . . g.56400
AACCGGGTGACAGAGAATGAGTTCGTGCGCTCGCTGAAG | GCCTCTGAGAGGGAGACCATC c.2640
N R V T E N E F V R S L K | A S E R E T I p.880
. . . . . . g.56460
AAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTG c.2700
K M Q D K L N Q L S E E K A T L L N Q L p.900
. | 17 . . . . . g.58181
GTGGAAGCAGA | ACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATG c.2760
V E A E | H Q I M L W E K K I Q L A K E M p.920
. . . . . . g.58241
CGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATC c.2820
R S S V D S E I G Q T E I R A M K G E I p.940
. | 18 . . . . . g.63679
CACAGGATGAAG | GTCAGGCTCGGGCAGCTGCTGAAGCAGCAGGAGAAGATGATCCGTGCC c.2880
H R M K | V R L G Q L L K Q Q E K M I R A p.960
. . . . . . g.63739
ATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAG c.2940
M E L A V A R R E T V T T Q A E G Q R K p.980
. . . . . . g.63799
ATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGG c.3000
M D R K A L T R T D F H H K Q L E L R R p.1000
. . | 19 . . . . g.65652
AAAATCAGGGACGTTCGCAAG | GCCACCGATGAGTGCACCAAAACCGTCCTGGAACTGGAA c.3060
K I R D V R K | A T D E C T K T V L E L E p.1020
. . . . . . g.65712
GAAACACAAAGAAATGTGAGCAGCTCCCTCCTAGAGAAGCAGGAAAAGCTGTCGGTGATT c.3120
E T Q R N V S S S L L E K Q E K L S V I p.1040
. . . . . . g.65772
CAGGCAGACTTCGACACACTCGAGGCCGACCTCACCCGGCTTGGGGCCCTCAAACGACAG c.3180
Q A D F D T L E A D L T R L G A L K R Q p.1060
| 20 . . . . . . g.67955
| AACCTTTCAGAGATCGTGGCCCTGCAGACACGCCTTAAGCACCTGCAGGCTGTGAAGGAG c.3240
| N L S E I V A L Q T R L K H L Q A V K E p.1080
. . . . . . g.68015
GGGCGCTACGTGTTCCTGTTCCGCTCCAAGCAGTCCCTAGTGCTGGAGCGCCAGCGCCTG c.3300
G R Y V F L F R S K Q S L V L E R Q R L p.1100
. . . . . . g.68075
GACAAGCGACTGGCTCTCATCGCCACCATCCTGGACCGCGTGCGGGACGAGTACCCCCAG c.3360
D K R L A L I A T I L D R V R D E Y P Q p.1120
. . . . . . g.68135
TTCCAGGAGGCCCTGCACAAGGTCAGCCAGATGATCGCCAACAAGCTCGAGTCACCAGGG c.3420
F Q E A L H K V S Q M I A N K L E S P G p.1140
g.68144
CCCTCCTAG c.3429
P S X p.1142
. . . . . . g.68204
ggagcagcctggactccgccttgcaaggcctccaggaagagatccggaattgtgtttgtc c.*60
. . . . . . g.68264
atgagggacttggaatcttttgtgttcctaaaaaccacatgtaccctcagaagggcatcg c.*120
. . . . . . g.68324
tttaagagaaataagccagccccacccataggaatctttttagccactcagcaatttaat c.*180
. . . . . . g.68384
aaaccaggtaaaatcctagcgtttcccatggcatcccatcgcaaagacagagcctgtgac c.*240
. . . . . . g.68444
tgcagacccacacacccacactcccacactgggcttactcgtccaggtaacactttggtt c.*300
. . . . . . g.68504
tgcagcactcccaaatctgcacgtgcctctcacaacacaacgctgccacaggtccacaag c.*360
. . . . . . g.68564
ctggtgggctgagcagaggtgggaaagttaaggcagctccagccagcctggcccgggagg c.*420
. . . . . . g.68624
ctggtccccccagcacttccctctactaggtgcatctgaaaacccacaaaccaccttctt c.*480
. . . . . . g.68684
taccagttttcccatccccaccccttagaactctcaggtcccttttcctgcccccatgtc c.*540
. . . . . . g.68744
cccatttgagttaaattcagatccacagcttgcaggagaaagtcagtggccccagacaca c.*600
. . . . . . g.68804
cgtaacagggtgagcactgaaataagagcacgctggggcgtccacaccaagggactacgc c.*660
. . . . . . g.68864
cccagtctgcccacctatcttttctccatcattaacccagcgctctttctccctggactt c.*720
. . . . . . g.68924
ccaagtaccaatgaccttggggcttctttgcagtttaaagggaaaatgctctacaaaata c.*780
. . . . . g.68982
atttcactttcaaacatttcagcagaagaataaaatcttttttctgaatatctagtaa c.*838
(downstream sequence)
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