(used for variant description)
(last modified February 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_022168.3 in the IFIH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011495.1, covering IFIH1 transcript NM_022168.3.
(upstream sequence)
. . . . g.4862
atcgaaacagaaaccaaagtcaggcaaactctgtaagaact c.-361
. . . . . . g.4922
gcctgacagaaagctggactcaaagctcctacccgagtgtgcagcaggatcgccccggtc c.-301
. . . . . . g.4982
cgggaccccaggcgcacaccgcagagtccaaagtgccgcgcctgccggccgcacctgcct c.-241
. . . . . . g.5042
gccgcggccccgcgcgccgccccgctgcccacctgcccgcctgcccacctgcccaggtgc c.-181
. . . . . . g.5102
gagtgcagccccgcgcgccggcctgagagccctgtggacaacctcgtcattgtcaggcac c.-121
. . . . . . g.5162
agagcggtagaccctgcttctctaagtgggcagcggacagcggcacgcacatttcacctg c.-61
. . . . . . g.5222
tcccgcagacaacagcaccatctgcttgggagaaccctctcccttctctgagaaagaaag c.-1
. . . . . . g.5282
ATGTCGAATGGGTATTCCACAGACGAGAATTTCCGCTATCTCATCTCGTGCTTCAGGGCC c.60
M S N G Y S T D E N F R Y L I S C F R A p.20
. . . . . . g.5342
AGGGTGAAAATGTACATCCAGGTGGAGCCTGTGCTGGACTACCTGACCTTTCTGCCTGCA c.120
R V K M Y I Q V E P V L D Y L T F L P A p.40
. . . . . . g.5402
GAGGTGAAGGAGCAGATTCAGAGGACAGTCGCCACCTCCGGGAACATGCAGGCAGTTGAA c.180
E V K E Q I Q R T V A T S G N M Q A V E p.60
. . . . . . g.5462
CTGCTGCTGAGCACCTTGGAGAAGGGAGTCTGGCACCTTGGTTGGACTCGGGAATTCGTG c.240
L L L S T L E K G V W H L G W T R E F V p.80
. . . . . . g.5522
GAGGCCCTCCGGAGAACCGGCAGCCCTCTGGCCGCCCGCTACATGAACCCTGAGCTCACG c.300
E A L R R T G S P L A A R Y M N P E L T p.100
. . . . . . g.5582
GACTTGCCCTCTCCATCGTTTGAGAACGCTCATGATGAATATCTCCAACTGCTGAACCTC c.360
D L P S P S F E N A H D E Y L Q L L N L p.120
. . . . . . g.5642
CTTCAGCCCACTCTGGTGGACAAGCTTCTAGTTAGAGACGTCTTGGATAAGTGCATGGAG c.420
L Q P T L V D K L L V R D V L D K C M E p.140
. . . | 02 . . . g.12623
GAGGAACTGTTGACAATTGAAGACAGAAACCGG | ATTGCTGCTGCAGAAAACAATGGAAAT c.480
E E L L T I E D R N R | I A A A E N N G N p.160
. . . . . . g.12683
GAATCAGGTGTAAGAGAGCTACTAAAAAGGATTGTGCAGAAAGAAAACTGGTTCTCTGCA c.540
E S G V R E L L K R I V Q K E N W F S A p.180
. . . . . . g.12743
TTTCTGAATGTTCTTCGTCAAACAGGAAACAATGAACTTGTCCAAGAGTTAACAGGCTCT c.600
F L N V L R Q T G N N E L V Q E L T G S p.200
. . | 03 . . . . g.16712
GATTGCTCAGAAAGCAATGCAG | AGATTGAGAATTTATCACAAGTTGATGGTCCTCAAGTG c.660
D C S E S N A E | I E N L S Q V D G P Q V p.220
. . . . . . g.16772
GAAGAGCAACTTCTTTCAACCACAGTTCAGCCAAATCTGGAGAAGGAGGTCTGGGGCATG c.720
E E Q L L S T T V Q P N L E K E V W G M p.240
. . . . | 04 . g.29872
GAGAATAACTCATCAGAATCATCTTTTGCAGATTCTTCTGTAGTTTCAG | AATCAGACACA c.780
E N N S S E S S F A D S S V V S E | S D T p.260
. . . . . . g.29932
AGTTTGGCAGAAGGAAGTGTCAGCTGCTTAGATGAAAGTCTTGGACATAACAGCAACATG c.840
S L A E G S V S C L D E S L G H N S N M p.280
. . . | 05 . . . g.35200
GGCAGTGATTCAGGCACCATGGGAAGTGATTCAG | ATGAAGAGAATGTGGCAGCAAGAGCA c.900
G S D S G T M G S D S D | E E N V A A R A p.300
. . . . . . g.35260
TCCCCGGAGCCAGAACTCCAGCTCAGGCCTTACCAAATGGAAGTTGCCCAGCCAGCCTTG c.960
S P E P E L Q L R P Y Q M E V A Q P A L p.320
. . . . . . g.35320
GAAGGGAAGAATATCATCATCTGCCTCCCTACAGGGAGTGGAAAAACCAGAGTGGCTGTT c.1020
E G K N I I I C L P T G S G K T R V A V p.340
. . . . . . g.35380
TACATTGCCAAGGATCACTTAGACAAGAAGAAAAAAGCATCTGAGCCTGGAAAAGTTATA c.1080
Y I A K D H L D K K K K A S E P G K V I p.360
. | 06 . . . . . g.40998
GTTCTTGTCAATAAG | GTACTGCTAGTTGAACAGCTCTTCCGCAAGGAGTTCCAACCATTT c.1140
V L V N K | V L L V E Q L F R K E F Q P F p.380
. . . . . . g.41058
TTGAAGAAATGGTATCGTGTTATTGGATTAAGTGGTGATACCCAACTGAAAATATCATTT c.1200
L K K W Y R V I G L S G D T Q L K I S F p.400
. . . . . . g.41118
CCAGAAGTTGTCAAGTCCTGTGATATTATTATCAGTACAGCTCAAATCCTTGAAAACTCC c.1260
P E V V K S C D I I I S T A Q I L E N S p.420
. . . . | 07 . . g.41998
CTCTTAAACTTGGAAAATGGAGAAGATGCTGGTGTTCAATTGTCAG | ACTTTTCCCTCATT c.1320
L L N L E N G E D A G V Q L S D | F S L I p.440
. . . . . . g.42058
ATCATTGATGAATGTCATCACACCAACAAAGAAGCAGTGTATAATAACATCATGAGGCAT c.1380
I I D E C H H T N K E A V Y N N I M R H p.460
. . . . . . g.42118
TATTTGATGCAGAAGTTGAAAAACAATAGACTCAAGAAAGAAAACAAACCAGTGATTCCC c.1440
Y L M Q K L K N N R L K K E N K P V I P p.480
. . . . . . g.42178
CTTCCTCAGATACTGGGACTAACAGCTTCACCTGGTGTTGGAGGGGCCACGAAGCAAGCC c.1500
L P Q I L G L T A S P G V G G A T K Q A p.500
. . | 08 . . . . g.43453
AAAGCTGAAGAACACATTTTAAAA | CTATGTGCCAATCTTGATGCATTTACTATTAAAACT c.1560
K A E E H I L K | L C A N L D A F T I K T p.520
. . . . . . g.43513
GTTAAAGAAAACCTTGATCAACTGAAAAACCAAATACAGGAGCCATGCAAGAAGTTTGCC c.1620
V K E N L D Q L K N Q I Q E P C K K F A p.540
. . | 09 . . . . g.45240
ATTGCAGATGCAACCAGAGAA | GATCCATTTAAAGAGAAACTTCTAGAAATAATGACAAGG c.1680
I A D A T R E | D P F K E K L L E I M T R p.560
. . . . . . g.45300
ATTCAAACTTATTGTCAAATGAGTCCAATGTCAGATTTTGGAACTCAACCCTATGAACAA c.1740
I Q T Y C Q M S P M S D F G T Q P Y E Q p.580
. . | 10 . . . . g.45871
TGGGCCATTCAAATGGAAAAAAAAG | CTGCAAAAGAAGGAAATCGCAAAGAACGTGTTTGT c.1800
W A I Q M E K K A | A K E G N R K E R V C p.600
. . . . . . g.45931
GCAGAACATTTGAGGAAGTACAATGAGGCCCTACAAATTAATGACACAATTCGAATGATA c.1860
A E H L R K Y N E A L Q I N D T I R M I p.620
. . . . . . g.45991
GATGCGTATACTCATCTTGAAACTTTCTATAATGAAGAGAAAGATAAGAAGTTTGCAGTC c.1920
D A Y T H L E T F Y N E E K D K K F A V p.640
. . . . . . g.46051
ATAGAAGATGATAGTGATGAGGGTGGTGATGATGAGTATTGTGATGGTGATGAAGATGAG c.1980
I E D D S D E G G D D E Y C D G D E D E p.660
. . . . . . g.46111
GATGATTTAAAGAAACCTTTGAAACTGGATGAAACAGATAGATTTCTCATGACTTTATTT c.2040
D D L K K P L K L D E T D R F L M T L F p.680
| 11 . . . . . . g.46639
TTTG | AAAACAATAAAATGTTGAAAAGGCTGGCTGAAAACCCAGAATATGAAAATGAAAAG c.2100
F E | N N K M L K R L A E N P E Y E N E K p.700
. . . . . . g.46699
CTGACCAAATTAAGAAATACCATAATGGAGCAATATACTAGGACTGAGGAATCAGCACGA c.2160
L T K L R N T I M E Q Y T R T E E S A R p.720
. . . . . . g.46759
GGAATAATCTTTACAAAAACACGACAGAGTGCATATGCGCTTTCCCAGTGGATTACTGAA c.2220
G I I F T K T R Q S A Y A L S Q W I T E p.740
. . . . . . g.46819
AATGAAAAATTTGCTGAAGTAGGAGTCAAAGCCCACCATCTGATTGGAGCTGGACACAGC c.2280
N E K F A E V G V K A H H L I G A G H S p.760
. . | 12 . . . . g.49621
AGTGAGTTCAAACCCATGACACAG | AATGAACAAAAAGAAGTCATTAGTAAATTTCGCACT c.2340
S E F K P M T Q | N E Q K E V I S K F R T p.780
. . . . . . g.49681
GGAAAAATAAATCTGCTTATCGCTACCACAGTGGCAGAAGAAGGTCTGGATATTAAAGAA c.2400
G K I N L L I A T T V A E E G L D I K E p.800
. . . . . | 13 . g.51148
TGTAACATTGTTATCCGTTATGGTCTCGTCACCAATGAAATAGCCATGGTCCAG | GCCCGT c.2460
C N I V I R Y G L V T N E I A M V Q | A R p.820
. . . . . . g.51208
GGTCGAGCCAGAGCTGATGAGAGCACCTACGTCCTGGTTGCTCACAGTGGTTCAGGAGTT c.2520
G R A R A D E S T Y V L V A H S G S G V p.840
. . . . . . g.51268
ATCGAACATGAGACAGTTAATGATTTCCGAGAGAAGATGATGTATAAAGCTATACATTGT c.2580
I E H E T V N D F R E K M M Y K A I H C p.860
. . . | 14 . . . g.55276
GTTCAAAATATGAAACCAGAGGAGTATGCTCATAAG | ATTTTGGAATTACAGATGCAAAGT c.2640
V Q N M K P E E Y A H K | I L E L Q M Q S p.880
. . . . . . g.55336
ATAATGGAAAAGAAAATGAAAACCAAGAGAAATATTGCCAAGCATTACAAGAATAACCCA c.2700
I M E K K M K T K R N I A K H Y K N N P p.900
. . . . . . g.55396
TCACTAATAACTTTCCTTTGCAAAAACTGCAGTGTGCTAGCCTGTTCTGGGGAAGATATC c.2760
S L I T F L C K N C S V L A C S G E D I p.920
. . . . | 15. . g.55973
CATGTAATTGAGAAAATGCATCACGTCAATATGACCCCAGAATTCAA | GGAACTTTACATT c.2820
H V I E K M H H V N M T P E F K | E L Y I p.940
. . . . . . g.56033
GTAAGAGAAAACAAAGCACTGCAAAAGAAGTGTGCCGACTATCAAATAAATGGTGAAATC c.2880
V R E N K A L Q K K C A D Y Q I N G E I p.960
. | 16 . . . . g.56192
ATCTGCAAATGTGGCCAG | GCTTGGGGAACAATGATGGTGCACAAAGGCTTAGATTTGCCT c.2940
I C K C G Q | A W G T M M V H K G L D L P p.980
. . . . . . g.56252
TGTCTCAAAATAAGGAATTTTGTAGTGGTTTTCAAAAATAATTCAACAAAGAAACAATAC c.3000
C L K I R N F V V V F K N N S T K K Q Y p.1000
. . . . . . g.56312
AAAAAGTGGGTAGAATTACCTATCACATTTCCCAATCTTGACTATTCAGAATGCTGTTTA c.3060
K K W V E L P I T F P N L D Y S E C C L p.1020
. g.56330
TTTAGTGATGAGGATTAG c.3078
F S D E D X p.1025
. . . . . . g.56390
cacttgattgaagattcttttaaaatactatcagttaaacatttaatatgattatgatta c.*60
. . . . . . g.56450
atgtattcattatgctacagaactgacataagaatcaataaaatgattgttttactctgc c.*120
g.56451
a c.*121
(downstream sequence)
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