(used for variant description)
(last modified September 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_138615.2 in the DHX30 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering DHX30 transcript NM_138615.2.
(upstream sequence)
g.5006
ccgcct c.-421
. . . . . . g.5066
gcaccgccgccgcgccccattgggccgggtgctggggcatcccgggcgctgggtgccccg c.-361
. . . . . . g.5126
agcggctacgacgagtcccaggtggggccgggctccaggcccgcgggggagcggagccgt c.-301
. . . . . . g.5186
gcgccgcaggcgggctccgtgacgccgggtggggaacgccgggccggtggcgggacttcc c.-241
. . . . . . g.5246
gccacgggactcggaaggggccgcgccgccgctgctgggagttgtagtccggccgtggtt c.-181
. . . . . . | 02 g.7419
gggggagccgcggctcatgcgcggtgcacagaggcttgtttcacatctgtaacaacag | ga c.-121
. . . . . . g.7479
ggaggcccagcctcgtgatgaggaatagcaaggagagaattcagctccagttcaaaagcc c.-61
. . . . | 03 . . g.12775
tacaaaatctgagactgtcattgcttttataag | gattccagctttccctcctggccagaa c.-1
. . | 04 . . . g.20145
ATGTTCAGCCTGGACTCATTCAGAAAAG | ATCGGGCCCAGCACAGGCAGCGTCAGTGCAAA c.60
M F S L D S F R K D | R A Q H R Q R Q C K p.20
. . . . . . g.20205
CTTCCCCCACCCCGCCTTCCACCCATGTGTGTCAACCCTACCCCAGGAGGGACCATCTCT c.120
L P P P R L P P M C V N P T P G G T I S p.40
| 05 . . . . . . g.29494
CGAG | CTTCTAGGGACCTATTAAAAGAGTTCCCACAGCCCAAAAATCTTCTCAACAGTGTG c.180
R A | S R D L L K E F P Q P K N L L N S V p.60
. . . . . . g.29554
ATTGGAAGAGCCCTCGGCATCTCACATGCAAAAGACAAACTAGTCTACGTGCACACAAAT c.240
I G R A L G I S H A K D K L V Y V H T N p.80
. | 06 . . . . . g.31160
GGACCGAAGAAAAAG | AAAGTCACACTGCACATAAAATGGCCCAAGAGCGTGGAGGTAGAA c.300
G P K K K | K V T L H I K W P K S V E V E p.100
. . . . . . g.31220
GGCTATGGCAGCAAGAAGATCGATGCTGAGCGGCAGGCTGCAGCTGCAGCCTGCCAGCTG c.360
G Y G S K K I D A E R Q A A A A A C Q L p.120
| 07 . . . . . . g.43022
TTCAAG | GGTTGGGGTCTGCTAGGTCCCCGGAATGAGTTGTTTGACGCAGCCAAATACCGA c.420
F K | G W G L L G P R N E L F D A A K Y R p.140
. . . . . . g.43082
GTGCTAGCTGATCGCTTTGGCTCCCCTGCCGACAGCTGGTGGCGTCCGGAACCCACCATG c.480
V L A D R F G S P A D S W W R P E P T M p.160
. . . . . . g.43142
CCCCCTACTTCCTGGCGGCAGCTGAATCCAGAGAGTATTCGACCAGGGGGACCTGGGGGC c.540
P P T S W R Q L N P E S I R P G G P G G p.180
. . . . . . g.43202
CTATCCCGCTCTTTAGGCCGGGAAGAAGAGGAGGACGAGGAGGAAGAGCTAGAAGAAGGG c.600
L S R S L G R E E E E D E E E E L E E G p.200
. . . . . . g.43262
ACCATAGATGTTACCGACTTCTTGTCCATGACCCAGCAGGATTCCCACGCTCCACTCAGG c.660
T I D V T D F L S M T Q Q D S H A P L R p.220
| 08 . . . . . g.43760
GACTCAAG | GGGGAGTTCCTTTGAGATGACAGATGACGACAGTGCCATTAGGGCTCTGACC c.720
D S R | G S S F E M T D D D S A I R A L T p.240
. . . . . . g.43820
CAGTTTCCACTTCCCAAGAACCTTCTGGCCAAGGTGATTCAGATTGCAACGTCATCCTCC c.780
Q F P L P K N L L A K V I Q I A T S S S p.260
| 09 . . . . . g.45248
ACAGCTAAG | AACCTCATGCAGTTCCATACTGTGGGCACCAAGACCAAGCTGTCTACACTC c.840
T A K | N L M Q F H T V G T K T K L S T L p.280
. . . . . . g.45308
ACCCTGCTCTGGCCCTGCCCCATGACCTTTGTTGCCAAAGGGCGCCGCAAAGCAGAGGCT c.900
T L L W P C P M T F V A K G R R K A E A p.300
. . . | 10 . . g.47812
GAGAATAAGGCGGCAGCCTTGGCCTGCAAGAAACTGAAG | AGCCTGGGCCTGGTGGACAGG c.960
E N K A A A L A C K K L K | S L G L V D R p.320
. . . . . . g.47872
AACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAG c.1020
N N E P L T H A M Y N L A S L R E L G E p.340
. . . . . . g.47932
ACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACC c.1080
T Q R R P C T I Q V P E P I L R K I E T p.360
. | 11 . . . . . g.48304
TTCCTGAACCAT | TACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGT c.1140
F L N H | Y P V E S S W I A P E L R L Q S p.380
. . . . . . g.48364
GATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAG c.1200
D D I L P L G K D S G P L S D P I T G K p.400
. . . . . . g.48424
CCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTG c.1260
P Y V P L L E A E E V R L S Q S L L E L p.420
. . . . . . g.48484
TGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGG c.1320
W R R R G P V W Q E A P Q L P V D P H R p.440
. . . . . . g.48544
GACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGC c.1380
D T I L N A I E Q H P V V V I S G D T G p.460
. . . . . . g.48604
TGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGA c.1440
C G K T T R I P Q L L L E R Y V T E G R p.480
. . . . . . g.48664
GGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCA c.1500
G A R C N V I I T Q P R R I S A V S V A p.500
. . . . . . g.48724
CAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGG c.1560
Q R V S H E L G P S L R R N V G F Q V R p.520
. . . . . . g.48784
TTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTG c.1620
L E S K P P S R G G A L L F C T V G I L p.540
. . . . . . g.48844
CTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAG c.1680
L R K L Q S N P S L E G V S H V I V D E p.560
. . . . . . g.48904
GTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGG c.1740
V H E R D V N T D F L L I L L K G L Q R p.580
. . . . . . g.48964
CTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCC c.1800
L N P A L R L V L M S A T G D N E R F S p.600
. . . . . . g.49024
CGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAG c.1860
R Y F G G C P V I K V P G F M Y P V K E p.620
. . . . . . g.49084
CACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGG c.1920
H Y L E D I L A K L G K H Q Y L H R H R p.640
| 12 . . . . . g.49415
CACCATGAG | TCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTG c.1980
H H E | S E D E C A L D L D L V T D L V L p.660
. . | 13 . . . . g.49558
CACATCGATGCTCGCGGGGAACCAG | GTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAG c.2040
H I D A R G E P G | G I L C F L P G W Q E p.680
. . . . . . g.49618
ATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTC c.2100
I K G V Q Q R L Q E A L G M H E S K Y L p.700
. | 14 . . . . . g.49922
ATCCTGCCAG | TGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCT c.2160
I L P V | H S N I P M M D Q K A I F Q Q P p.720
. . . . . . g.49982
CCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATC c.2220
P V G V R K I V L A T N I A E T S I T I p.740
. . . . . . g.50042
AATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAG c.2280
N D I V H V V D S G L H K E E R Y D L K p.760
| 15 . . . . . . g.50325
ACCAAG | GTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGG c.2340
T K | V S C L E T V W V S R A N V I Q R R p.780
. . . . . . g.50385
GGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTG c.2400
G R A G R C Q S G F A Y H L F P R S R L p.800
. . . . . . g.50445
GAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTG c.2460
E K M V P F Q V P E I L R T P L E N L V p.820
. . . | 16 . . . g.50587
CTGCAAGCGAAAATCCACATGCCTGAGAAGACG | GCGGTGGAGTTCCTGTCCAAGGCTGTG c.2520
L Q A K I H M P E K T | A V E F L S K A V p.840
. . . . . | 17 . g.50720
GACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCG | GGGTG c.2580
D S P N I K A V D E A V I L L Q E I G | V p.860
. . . . . . g.50780
CTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGAC c.2640
L D Q R E Y L T T L G Q R L A H I S T D p.880
. . . . . . g.50840
CCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTG c.2700
P R L A K A I V L A A I F R C L H P L L p.900
. . . . . . g.50900
GTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAG c.2760
V V V S C L T R D P F S S S L Q N R A E p.920
| 18 . . . . . g.51062
GTGGACAAG | GTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTG c.2820
V D K | V K A L L S H D S G S D H L A F V p.940
. . . . . . g.51122
CGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAAT c.2880
R A V A G W E E V L R W Q D R S S R E N p.960
. . . . | 19 . g.51294
TACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACG | GACTCATCAAG c.2940
Y L E E N L L Y A P S L R F I H G | L I K p.980
. . . . . . g.51354
CAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTG c.3000
Q F S E N I Y E A F L V G K P S D C T L p.1000
. . . . . . g.51414
GCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATG c.3060
A S A Q C N E Y S E E E E L V K G V L M p.1020
. . | 20. . . . g.51575
GCCGGCCTCTACCCCAACCTCATCCAG | GTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAG c.3120
A G L Y P N L I Q | V R Q G K V T R Q G K p.1040
. . . . . . g.51635
TTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCG c.3180
F K P N S V T Y R T K S G N I L L H K S p.1060
. | 21 . . . . . g.51770
ACCATTAACAG | GGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTC c.3240
T I N R | E A T R L R S R W L T Y F M A V p.1080
. . . . . . g.51830
AAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTG c.3300
K S N G S V F V R D S S Q V H P L A V L p.1100
. . . | 22 . . . g.51987
CTGCTGACCGACGGGGACGTGCACATCCGTG | ATGACGGGCGCCGGGCCACCATCTCACTG c.3360
L L T D G D V H I R D | D G R R A T I S L p.1120
. . . . . . g.52047
AGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAG c.3420
S D S D L L R L E G D S R T V R L L K E p.1140
. . . . . . g.52107
CTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTT c.3480
L R R A L G R M V E R S L R S E L A A L p.1160
. . . . . . g.52167
CCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGA c.3540
P P S V Q E E H G Q L L A L L A E L L R p.1180
. . . . g.52212
GGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGA c.3585
G P C G S F D V R K T A D D X p.1194
. . . . . . g.52272
gccctgcttctgctggggctgtgtacagagtgcaaatgtttatttaaaataaagttctat c.*60
. g.52288
ttatcccttgtgacca c.*76
(downstream sequence)
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