(used for variant description)
(last modified February 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004258.4 in the CD101 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CD101 transcript NM_004258.4.
(upstream sequence)
g.5008
agcatttg c.-61
. . . . . . g.5068
tcactcaacctctgaatgttagtgacactattgggacgaaaaaggactgtgctggcccaa c.-1
. . . . | 02 . . g.13117
ATGGCAGGCATCTCATATGTGGCATCTTTCTTTCTCCTTCTGA | CTAAGCTCAGCATTGGC c.60
M A G I S Y V A S F F L L L T | K L S I G p.20
. . . . . . g.13177
CAGAGAGAAGTAACAGTTCAGAAAGGACCACTGTTTAGAGCTGAAGGTTACCCAGTCAGC c.120
Q R E V T V Q K G P L F R A E G Y P V S p.40
. . . . . . g.13237
ATTGGCTGCAATGTAACTGGCCACCAGGGACCTTCTGAGCAGCATTTCCAGTGGTCTGTT c.180
I G C N V T G H Q G P S E Q H F Q W S V p.60
. . . . . . g.13297
TACCTGCCGACAAACCCGACCCAGGAAGTCCAGATCATTAGCACCAAGGATGCTGCCTTC c.240
Y L P T N P T Q E V Q I I S T K D A A F p.80
. . . . . . g.13357
TCTTACGCAGTATATACGCAGCGGGTGCGAAGCGGAGACGTCTACGTGGAGAGGGTCCAG c.300
S Y A V Y T Q R V R S G D V Y V E R V Q p.100
. . . . . . g.13417
GGCAACTCAGTCTTGTTGCACATCTCAAAACTCCAGATGAAGGATGCTGGCGAGTATGAG c.360
G N S V L L H I S K L Q M K D A G E Y E p.120
. . . . . . g.13477
TGTCACACACCAAACACTGATGAGAAATACTATGGAAGTTACAGTGCAAAGACTAATCTA c.420
C H T P N T D E K Y Y G S Y S A K T N L p.140
| 03 . . . . . . g.14856
ATTG | TTATTCCAGATACCCTCTCTGCCACCATGAGTTCTCAGACTCTCGGTAAGGAGGAA c.480
I V | I P D T L S A T M S S Q T L G K E E p.160
. . . . . . g.14916
GGTGAGCCATTAGCCCTCACCTGTGAGGCATCCAAAGCCACAGCCCAACATACTCACCTC c.540
G E P L A L T C E A S K A T A Q H T H L p.180
. . . . . . g.14976
TCTGTCACCTGGTACCTAACACAGGATGGAGGAGGAAGCCAAGCCACTGAGATTATTTCT c.600
S V T W Y L T Q D G G G S Q A T E I I S p.200
. . . . . . g.15036
CTCTCCAAAGATTTTATATTGGTCCCTGGGCCCTTGTATACAGAGCGGTTTGCAGCCAGT c.660
L S K D F I L V P G P L Y T E R F A A S p.220
. . . . . . g.15096
GACGTACAGCTCAACAAACTGGGACCCACTACATTCAGGCTGTCCATAGAGAGGCTCCAG c.720
D V Q L N K L G P T T F R L S I E R L Q p.240
. . . . . . g.15156
TCCTCAGATCAGGGTCAGCTGTTCTGTGAGGCAACGGAATGGATTCAGGATCCAGATGAA c.780
S S D Q G Q L F C E A T E W I Q D P D E p.260
. . . . . . g.15216
ACTTGGATGTTCATCACCAAAAAGCAGACCGATCAAACCACTCTGAGGATCCAGCCAGCA c.840
T W M F I T K K Q T D Q T T L R I Q P A p.280
| 04 . . . . . . g.16715
G | TGAAAGATTTTCAAGTCAACATTACAGCTGACAGCTTGTTTGCTGAAGGGAAACCCTTA c.900
V | K D F Q V N I T A D S L F A E G K P L p.300
. . . . . . g.16775
GAACTGGTTTGCCTGGTTGTAAGCAGTGGCCGTGACCCACAGCTTCAAGGCATTTGGTTC c.960
E L V C L V V S S G R D P Q L Q G I W F p.320
. . . . . . g.16835
TTCAATGGGACTGAAATTGCTCACATTGATGCTGGTGGAGTCCTGGGCCTGAAGAATGAC c.1020
F N G T E I A H I D A G G V L G L K N D p.340
. . . . . . g.16895
TACAAAGAGAGAGCAAGTCAAGGAGAGCTCCAGGTTTCAAAGTTAGGCCCCAAGGCTTTC c.1080
Y K E R A S Q G E L Q V S K L G P K A F p.360
. . . . . . g.16955
TCTCTCAAGATCTTCTCTCTGGGCCCAGAGGATGAAGGCGCCTACAGATGTGTGGTAGCA c.1140
S L K I F S L G P E D E G A Y R C V V A p.380
. . . . . . g.17015
GAGGTCATGAAAACACGCACAGGTTCCTGGCAGGTGCTTCAGAGAAAGCAGTCACCAGAC c.1200
E V M K T R T G S W Q V L Q R K Q S P D p.400
. . | 05 . . . g.20372
AGCCACGTGCACCTGAGGAAGCCAGCAG | CAAGAAGTGTGGTCATGTCTACCAAGAACAAG c.1260
S H V H L R K P A A | R S V V M S T K N K p.420
. . . . . . g.20432
CAGCAAGTTGTGTGGGAAGGAGAGACACTCGCCTTTCTCTGTAAGGCTGGTGGAGCTGAA c.1320
Q Q V V W E G E T L A F L C K A G G A E p.440
. . . . . . g.20492
AGTCCCCTGTCTGTGAGCTGGTGGCACATCCCACGGGACCAGACACAGCCCGAGTTTGTG c.1380
S P L S V S W W H I P R D Q T Q P E F V p.460
. . . . . . g.20552
GCTGGCATGGGGCAGGATGGCATTGTGCAGCTGGGTGCCTCCTATGGGGTACCCAGTTAC c.1440
A G M G Q D G I V Q L G A S Y G V P S Y p.480
. . . . . . g.20612
CATGGCAACACAAGGCTGGAGAAAATGGACTGGGCCACCTTCCAGCTGGAGATCACCTTC c.1500
H G N T R L E K M D W A T F Q L E I T F p.500
. . . . . . g.20672
ACTGCCATCACAGACAGTGGCACATATGAGTGCAGAGTATCTGAGAAGTCTCGGAACCAG c.1560
T A I T D S G T Y E C R V S E K S R N Q p.520
. . . . . | 06 . g.21414
GCCAGAGATCTGAGCTGGACTCAGAAGATTTCAGTTACTGTAAAGTCTCTGG | AGTCAAGT c.1620
A R D L S W T Q K I S V T V K S L E | S S p.540
. . . . . . g.21474
TTACAAGTTAGTCTGATGAGCCGTCAGCCGCAAGTGATGTTAACCAACACCTTTGACCTG c.1680
L Q V S L M S R Q P Q V M L T N T F D L p.560
. . . . . . g.21534
TCCTGTGTCGTGAGGGCCGGTTACTCTGACCTCAAGGTGCCACTCACTGTGACGTGGCAG c.1740
S C V V R A G Y S D L K V P L T V T W Q p.580
. . . . . . g.21594
TTCCAGCCAGCTAGCTCTCACATCTTCCACCAGCTTATTCGAATCACCCACAATGGCACT c.1800
F Q P A S S H I F H Q L I R I T H N G T p.600
. . . . . . g.21654
ATTGAATGGGGGAATTTCCTATCCCGGTTCCAAAAGAAGACGAAAGTGTCGCAGTCTTTA c.1860
I E W G N F L S R F Q K K T K V S Q S L p.620
. . . . . . g.21714
TTTCGTTCACAACTCCTAGTCCATGATGCCACTGAGGAAGAGACAGGAGTGTATCAGTGT c.1920
F R S Q L L V H D A T E E E T G V Y Q C p.640
. . . . . . g.21774
GAAGTAGAAGTTTATGACAGAAATTCCCTATACAACAACCGCCCCCCGAGGGCTTCTGCC c.1980
E V E V Y D R N S L Y N N R P P R A S A p.660
. . . | 07. . . g.24846
ATCTCTCACCCACTGAGGATAGCCGTCACTTTACCAG | AGAGCAAGCTAAAAGTGAATTCA c.2040
I S H P L R I A V T L P E | S K L K V N S p.680
. . . . . . g.24906
AGGAGTCAAGTCCAAGAGCTCTCCATCAACTCCAACACTGATATAGAATGTAGCATCTTG c.2100
R S Q V Q E L S I N S N T D I E C S I L p.700
. . . . . . g.24966
TCCCGGTCCAATGGAAACCTTCAGTTAGCCATTATTTGGTATTTTTCTCCTGTTTCCACT c.2160
S R S N G N L Q L A I I W Y F S P V S T p.720
. . . . . . g.25026
AATGCCTCTTGGCTAAAGATCCTGGAGATGGACCAAACCAATGTTATAAAAACTGGGGAT c.2220
N A S W L K I L E M D Q T N V I K T G D p.740
. . . . . . g.25086
GAGTTTCACACCCCACAGAGAAAACAAAAATTTCATACTGAGAAGGTTTCCCAAGACTTA c.2280
E F H T P Q R K Q K F H T E K V S Q D L p.760
. . . . . . g.25146
TTTCAGCTGCACATTCTGAATGTGGAAGACAGCGATCGGGGCAAATATCACTGTGCTGTG c.2340
F Q L H I L N V E D S D R G K Y H C A V p.780
. . . . . . g.25206
GAGGAATGGCTCCTGTCTACAAATGGCACTTGGCACAAGCTTGGAGAAAAGAAGTCAGGA c.2400
E E W L L S T N G T W H K L G E K K S G p.800
. . | 08 . . . g.28791
CTAACAGAATTGAAACTCAAGCCCACAG | GAAGTAAGGTACGTGTCTCCAAAGTGTACTGG c.2460
L T E L K L K P T G | S K V R V S K V Y W p.820
. . . . . . g.28851
ACCGAAAATGTGACTGAGCACAGAGAAGTGGCCATCCGCTGCAGCCTGGAGAGTGTAGGC c.2520
T E N V T E H R E V A I R C S L E S V G p.840
. . . . . . g.28911
AGCTCAGCCACTCTGTACTCTGTGATGTGGTACTGGAACAGAGAAAACTCTGGAAGTAAA c.2580
S S A T L Y S V M W Y W N R E N S G S K p.860
. . . . . . g.28971
TTGCTGGTGCACTTGCAACATGATGGCTTGCTGGAGTATGGGGAAGAGGGGCTCAGGAGG c.2640
L L V H L Q H D G L L E Y G E E G L R R p.880
. . . . . . g.29031
CACCTGCACTGTTACCGTTCATCCTCTACAGACTTTGTCCTGAAGCTTCATCAGGTGGAG c.2700
H L H C Y R S S S T D F V L K L H Q V E p.900
. . . . . . g.29091
ATGGAGGATGCAGGAATGTACTGGTGTAGGGTGGCAGAGTGGCAGCTCCATGGACACCCA c.2760
M E D A G M Y W C R V A E W Q L H G H P p.920
. . . . . . g.29151
AGCAAGTGGATTAATCAAGCATCCGATGAGTCACAGCGGATGGTGCTCACGGTGCTGCCT c.2820
S K W I N Q A S D E S Q R M V L T V L P p.940
| 09 . . . . . . g.37166
TCAG | AGCCCACGCTTCCTTCCAGGATCTGCTCCTCGGCCCCTTTACTCTATTTCCTGTTC c.2880
S E | P T L P S R I C S S A P L L Y F L F p.960
. . . . . . g.37226
ATCTGTCCCTTCGTCCTGCTCCTCCTTCTGCTCATCTCCCTCCTCTGCTTATACTGGAAG c.2940
I C P F V L L L L L L I S L L C L Y W K p.980
. . . . . . g.37286
GCCAGGAAGTTGTCAACACTGCGTTCCAACACACGGAAAGAAAAAGCTCTCTGGGTGGAC c.3000
A R K L S T L R S N T R K E K A L W V D p.1000
. . . . . . g.37346
TTGAAAGAGGCTGGAGGTGTGACCACAAATAGGAGGGAAGACGAGGAGGAAGATGAAGGC c.3060
L K E A G G V T T N R R E D E E E D E G p.1020
g.37352
AACTGA | c.3067
N X p.1021
. . . | 10 . . . g.39433
atcccaagaggcacctgcagccaggaaggaaag | cttgttttacagcttcctgccttgctg c.*60
. . . . . . g.39493
cctgtttcttcccaagccccgtgtggaatgtggtgacctagtcacctggaaccagctcct c.*120
. . . . . . g.39553
gacagaccccggcaacttctagatgaacccaagtgaactttcctcattaccatcctgaag c.*180
. . . . . . g.39613
tcactaccccagggggagctatagcttcatgaccgtaacatgtgacctgtgtgctggcag c.*240
. . . . . . g.39673
gacgactcactgcggctgcgccactgggacccctcccctacatgcaccaatgcactctct c.*300
. . . . . . g.39733
cccctctccatcaccccataaaaccctcctgtcactttccttcagagacaccgctttgga c.*360
. . . . . . g.39793
gagtattcccagcgctctccttgcttgtgacaagtaaaaaaaaaaaaaaactccttttca c.*420
g.39796
tca c.*423
(downstream sequence)
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